GenomeNet

Database: RefSeq
Entry: NP_001281261
LinkDB: NP_001281261
Original site: NP_001281261 
LOCUS       NP_001281261             616 aa            linear   PRI 16-DEC-2018
DEFINITION  succinate dehydrogenase [ubiquinone] flavoprotein subunit,
            mitochondrial isoform 2 [Homo sapiens].
ACCESSION   NP_001281261
VERSION     NP_001281261.1
DBSOURCE    REFSEQ: accession NM_001294332.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 616)
  AUTHORS   Tsujii N, Hayashi T, Hayashi T, Kimura A and Nishikubo T.
  TITLE     Barth syndrome associated with triple mutation
  JOURNAL   Pediatr Int 60 (4), 385-387 (2018)
   PUBMED   29508483
  REMARK    GeneRIF: Report left ventricular non-compaction associated with
            Barth Syndrome due to triple mutations in TAZ, DTNA, and SDHA genes
            in multiple members of one family.
REFERENCE   2  (residues 1 to 616)
  AUTHORS   van der Tuin K, Mensenkamp AR, Tops CMJ, Corssmit EPM, Dinjens WN,
            van de Horst-Schrivers ANA, Jansen JC, de Jong MM, Kunst HPM,
            Kusters B, Leter EM, Morreau H, van Nesselrooij BMP, Oldenburg RA,
            Spruijt L, Hes FJ and Timmers HJLM.
  TITLE     Clinical Aspects of SDHA-Related Pheochromocytoma and
            Paraganglioma: A Nationwide Study
  JOURNAL   J. Clin. Endocrinol. Metab. 103 (2), 438-445 (2018)
   PUBMED   29177515
  REMARK    GeneRIF: Germline SDHA mutations are relatively common (7.6%) in
            patients with genetically unexplained paraganglioma (PGL). Most
            index patients presented with apparently sporadic PGL. In this SDHA
            series, the largest assembled so far, we found the lowest
            penetrance of all major PGL predisposition genes.
            Erratum:[J Clin Endocrinol Metab. 2018 May 1;103(5):2077. PMID:
            29538659]
REFERENCE   3  (residues 1 to 616)
  AUTHORS   Bannon AE, Kent J, Forquer I, Town A, Klug LR, McCann K, Beadling
            C, Harismendy O, Sicklick JK, Corless C, Shinde U and Heinrich MC.
  TITLE     Biochemical, Molecular, and Clinical Characterization of Succinate
            Dehydrogenase Subunit A Variants of Unknown Significance
  JOURNAL   Clin. Cancer Res. 23 (21), 6733-6743 (2017)
   PUBMED   28724664
  REMARK    GeneRIF: We used a yeast model to characterize 22 SDHA VUS. These
            data revealed 16 (73%) of SDHA VUS as loss of function (and
            therefore pathogenic), highlighting the importance of understanding
            such variants to provide better clinical recommendations for
            genetic counselors concerning family screening and early detection
            protocols.
REFERENCE   4  (residues 1 to 616)
  AUTHORS   Tufton N, Ghelani R, Srirangalingam U, Kumar AV, Drake WM,
            Iacovazzo D, Skordilis K, Berney D, Al-Mrayat M, Khoo B and Akker
            SA.
  TITLE     SDHA mutated paragangliomas may be at high risk of metastasis
  JOURNAL   Endocr. Relat. Cancer 24 (7), L43-L49 (2017)
   PUBMED   28500238
  REMARK    GeneRIF: The six index cases described here presented with a
            variety of clinical manifestations extending the known phenotypic
            spectrum in SDHA disease.
REFERENCE   5  (residues 1 to 616)
  AUTHORS   Parfait B, Chretien D, Rotig A, Marsac C, Munnich A and Rustin P.
  TITLE     Compound heterozygous mutations in the flavoprotein gene of the
            respiratory chain complex II in a patient with Leigh syndrome
  JOURNAL   Hum. Genet. 106 (2), 236-243 (2000)
   PUBMED   10746566
REFERENCE   6  (residues 1 to 616)
  AUTHORS   Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M,
            Viegas-Pequignot E, Munnich A and Rotig A.
  TITLE     Mutation of a nuclear succinate dehydrogenase gene results in
            mitochondrial respiratory chain deficiency
  JOURNAL   Nat. Genet. 11 (2), 144-149 (1995)
   PUBMED   7550341
REFERENCE   7  (residues 1 to 616)
  AUTHORS   Hirawake H, Wang H, Kuramochi T, Kojima S and Kita K.
  TITLE     Human complex II (succinate-ubiquinone oxidoreductase): cDNA
            cloning of the flavoprotein (Fp) subunit of liver mitochondria
  JOURNAL   J. Biochem. 116 (1), 221-227 (1994)
   PUBMED   7798181
REFERENCE   8  (residues 1 to 616)
  AUTHORS   Morris AA, Farnsworth L, Ackrell BA, Turnbull DM and Birch-Machin
            MA.
  TITLE     The cDNA sequence of the flavoprotein subunit of human heart
            succinate dehydrogenase
  JOURNAL   Biochim. Biophys. Acta 1185 (1), 125-128 (1994)
   PUBMED   8142412
REFERENCE   9  (residues 1 to 616)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Overview
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   26425749
REFERENCE   10 (residues 1 to 616)
  AUTHORS   Else,T., Greenberg,S. and Fishbein,L.
  TITLE     Hereditary Paraganglioma-Pheochromocytoma Syndromes
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   20301715
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA160919.1, AK295937.1,
            AK291311.1, AC021087.5 and HY265959.1.
            
            Summary: This gene encodes a major catalytic subunit of
            succinate-ubiquinone oxidoreductase, a complex of the mitochondrial
            respiratory chain. The complex is composed of four nuclear-encoded
            subunits and is localized in the mitochondrial inner membrane.
            Mutations in this gene have been associated with a form of
            mitochondrial respiratory chain deficiency known as Leigh Syndrome.
            A pseudogene has been identified on chromosome 3q29. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jun 2014].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' coding region, compared to variant 1. The encoded isoform (2) is
            shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK295937.1, SRR5189667.128141.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..616
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.33"
     Protein         1..616
                     /product="succinate dehydrogenase [ubiquinone]
                     flavoprotein subunit, mitochondrial isoform 2"
                     /EC_number="1.3.5.1"
                     /note="succinate dehydrogenase [ubiquinone] flavoprotein
                     subunit, mitochondrial; flavoprotein subunit of complex
                     II; succinate dehydrogenase complex, subunit A,
                     flavoprotein (Fp)"
                     /calculated_mol_wt=67169
     variation       1
                     /replace="c"
                     /db_xref="dbSNP:1085307796"
     variation       1
                     /replace="k"
                     /db_xref="dbSNP:750380279"
     variation       1
                     /replace="l"
                     /db_xref="dbSNP:1061517"
     variation       2
                     /replace="l"
                     /db_xref="dbSNP:780064103"
     variation       2
                     /replace="p"
                     /db_xref="dbSNP:758327622"
     variation       2
                     /replace="s"
                     /db_xref="dbSNP:751383247"
     variation       3
                     /replace="a"
                     /db_xref="dbSNP:1398198098"
     variation       3
                     /replace="g"
                     /db_xref="dbSNP:1252447154"
     variation       3
                     /replace="r"
                     /db_xref="dbSNP:756415935"
     variation       4
                     /replace="f"
                     /db_xref="dbSNP:778069799"
     variation       4
                     /replace="v"
                     /db_xref="dbSNP:749406988"
     variation       5
                     /replace="g"
                     /db_xref="dbSNP:770866830"
     variation       5
                     /replace="q"
                     /db_xref="dbSNP:779027774"
     variation       5
                     /replace="r"
                     /db_xref="dbSNP:1260744894"
     variation       6
                     /replace="d"
                     /db_xref="dbSNP:187964306"
     variation       6
                     /replace="g"
                     /db_xref="dbSNP:775847689"
     variation       6
                     /replace="s"
                     /db_xref="dbSNP:1352756438"
     variation       7
                     /replace="l"
                     /db_xref="dbSNP:760964443"
     variation       8
                     /replace="l"
                     /db_xref="dbSNP:878854631"
     variation       8
                     /replace="p"
                     /db_xref="dbSNP:768328967"
     variation       8
                     /replace="s"
                     /db_xref="dbSNP:1060505007"
     variation       9
                     /replace="l"
                     /db_xref="dbSNP:761508577"
     variation       9
                     /replace="w"
                     /db_xref="dbSNP:776218604"
     variation       10
                     /replace="l"
                     /db_xref="dbSNP:879099314"
     variation       11
                     /replace="l"
                     /db_xref="dbSNP:1139423"
     variation       11
                     /replace="p"
                     /db_xref="dbSNP:1139422"
     variation       14
                     /replace="r"
                     /db_xref="dbSNP:1192077362"
     variation       15
                     /replace="p"
                     /db_xref="dbSNP:1060503707"
     variation       15
                     /replace="r"
                     /db_xref="dbSNP:1060505002"
     variation       17
                     /replace="a"
                     /db_xref="dbSNP:764698195"
     variation       18
                     /replace="l"
                     /db_xref="dbSNP:1268905760"
     variation       19
                     /replace="a"
                     /db_xref="dbSNP:749948037"
     variation       21
                     /replace="a"
                     /db_xref="dbSNP:587781942"
     variation       23
                     /replace="l"
                     /db_xref="dbSNP:376207983"
     variation       24
                     /replace="i"
                     /db_xref="dbSNP:1196667387"
     variation       25
                     /replace="v"
                     /db_xref="dbSNP:774378936"
     variation       27
                     /replace="q"
                     /db_xref="dbSNP:759523671"
     variation       28
                     /replace="i"
                     /db_xref="dbSNP:1171584124"
     variation       29
                     /replace="e"
                     /db_xref="dbSNP:1436200566"
     variation       31
                     /replace="*"
                     /db_xref="dbSNP:142441643"
     variation       31
                     /replace="q"
                     /db_xref="dbSNP:752532780"
     variation       32
                     /replace="v"
                     /db_xref="dbSNP:1173329629"
     variation       33
                     /replace="v"
                     /db_xref="dbSNP:1061518"
     variation       34
                     /replace="r"
                     /db_xref="dbSNP:757478250"
     variation       34
                     /replace="y"
                     /db_xref="dbSNP:1395903862"
     variation       35
                     /replace="l"
                     /db_xref="dbSNP:765434536"
     variation       36
                     /replace="a"
                     /db_xref="dbSNP:750500173"
     variation       36
                     /replace="i"
                     /db_xref="dbSNP:1440814662"
     variation       36
                     /replace="t"
                     /db_xref="dbSNP:1301747916"
     variation       37
                     /replace="i"
                     /db_xref="dbSNP:758426529"
     variation       38
                     /replace="e"
                     /db_xref="dbSNP:1061519"
     variation       38
                     /replace="v"
                     /db_xref="dbSNP:34635677"
     Region          40..616
                     /region_name="PTZ00139"
                     /note="Succinate dehydrogenase [ubiquinone] flavoprotein
                     subunit; Provisional"
                     /db_xref="CDD:240286"
     variation       41
                     /replace="q"
                     /db_xref="dbSNP:1061520"
     variation       42
                     /replace="k"
                     /db_xref="dbSNP:747557411"
     variation       43
                     /replace="g"
                     /db_xref="dbSNP:1385076821"
     variation       45
                     /replace="t"
                     /db_xref="dbSNP:140736646"
     variation       46
                     /replace="e"
                     /db_xref="dbSNP:144599870"
     variation       47
                     /replace="v"
                     /db_xref="dbSNP:748490907"
     variation       48
                     /replace="s"
                     /db_xref="dbSNP:757353358"
     variation       49
                     /replace="g"
                     /db_xref="dbSNP:80207011"
     variation       50
                     /replace="f"
                     /db_xref="dbSNP:369321221"
     variation       50
                     /replace="s"
                     /db_xref="dbSNP:140264486"
     variation       52
                     /replace="f"
                     /db_xref="dbSNP:377470390"
     variation       52
                     /replace="t"
                     /db_xref="dbSNP:150326789"
     variation       54
                     /replace="q"
                     /db_xref="dbSNP:1468436658"
     variation       55
                     /replace="h"
                     /db_xref="dbSNP:142926807"
     variation       56
                     /replace="p"
                     /db_xref="dbSNP:745316978"
     variation       57
                     /replace="i"
                     /db_xref="dbSNP:1060503724"
     variation       58
                     /replace="-"
                     /db_xref="dbSNP:1230864771"
     variation       58
                     /replace="v"
                     /db_xref="dbSNP:771935948"
     variation       59
                     /replace="a"
                     /db_xref="dbSNP:775449731"
     variation       64
                     /replace="v"
                     /db_xref="dbSNP:760510019"
     variation       66
                     /replace="v"
                     /db_xref="dbSNP:1429525714"
     variation       67
                     /replace="i"
                     /db_xref="dbSNP:754770189"
     variation       68
                     /replace="g"
                     /db_xref="dbSNP:1055082816"
     variation       69
                     /replace="t"
                     /db_xref="dbSNP:370481102"
     variation       69
                     /replace="v"
                     /db_xref="dbSNP:886043564"
     variation       72
                     /replace="e"
                     /db_xref="dbSNP:1204881025"
     variation       72
                     /replace="t"
                     /db_xref="dbSNP:1486695889"
     variation       73
                     /replace="g"
                     /db_xref="dbSNP:776288745"
     variation       74
                     /replace="w"
                     /db_xref="dbSNP:763220651"
     variation       75
                     /replace="*"
                     /db_xref="dbSNP:781764920"
     variation       75
                     /replace="q"
                     /db_xref="dbSNP:751645963"
     variation       76
                     /replace="a"
                     /db_xref="dbSNP:1416043203"
     variation       78
                     /replace="f"
                     /db_xref="dbSNP:201138324"
     variation       79
                     /replace="d"
                     /db_xref="dbSNP:759568419"
     variation       79
                     /replace="g"
                     /db_xref="dbSNP:767927763"
     variation       80
                     /replace="f"
                     /db_xref="dbSNP:1247426048"
     variation       80
                     /replace="p"
                     /db_xref="dbSNP:200005136"
     variation       83
                     /replace="s"
                     /db_xref="dbSNP:1169341508"
     variation       84
                     /replace="e"
                     /db_xref="dbSNP:199615452"
     variation       84
                     /replace="g"
                     /db_xref="dbSNP:753293451"
     variation       85
                     /replace="l"
                     /db_xref="dbSNP:760710175"
     variation       86
                     /replace="d"
                     /db_xref="dbSNP:200519133"
     variation       87
                     /replace="i"
                     /db_xref="dbSNP:756543943"
     variation       88
                     /replace="a"
                     /db_xref="dbSNP:1421838740"
     variation       89
                     /replace="y"
                     /db_xref="dbSNP:138016874"
     variation       90
                     /replace="a"
                     /db_xref="dbSNP:886060514"
     variation       92
                     /replace="n"
                     /db_xref="dbSNP:375298039"
     variation       92
                     /replace="t"
                     /db_xref="dbSNP:778267118"
     variation       93
                     /replace="p"
                     /db_xref="dbSNP:1326611328"
     variation       96
                     /replace="a"
                     /db_xref="dbSNP:1412534704"
     variation       96
                     /replace="i"
                     /db_xref="dbSNP:377620054"
     variation       97
                     /replace="t"
                     /db_xref="dbSNP:371274523"
     variation       99
                     /replace="h"
                     /db_xref="dbSNP:745395045"
     variation       99
                     /replace="y"
                     /db_xref="dbSNP:786205145"
     variation       100
                     /replace="a"
                     /db_xref="dbSNP:1304729997"
     variation       100
                     /replace="t"
                     /db_xref="dbSNP:771662494"
     variation       102
                     /replace="v"
                     /db_xref="dbSNP:1240528592"
     variation       103
                     /replace="a"
                     /db_xref="dbSNP:1139424"
     Region          <104..423
                     /region_name="NADB_Rossmann"
                     /note="Rossmann-fold NAD(P)(+)-binding proteins; cl21454"
                     /db_xref="CDD:304358"
     variation       104
                     /replace="*"
                     /db_xref="dbSNP:1423978863"
     variation       104
                     /replace="h"
                     /db_xref="dbSNP:876658637"
     variation       105
                     /replace="l"
                     /db_xref="dbSNP:1200591418"
     variation       106
                     /replace="g"
                     /db_xref="dbSNP:777873911"
     variation       107
                     /replace="s"
                     /db_xref="dbSNP:749824479"
     variation       108
                     /replace="d"
                     /db_xref="dbSNP:569384870"
     variation       108
                     /replace="f"
                     /db_xref="dbSNP:774589410"
     variation       108
                     /replace="m"
                     /db_xref="dbSNP:1190622143"
     variation       108
                     /replace="y"
                     /db_xref="dbSNP:989318548"
     variation       111
                     /replace="l"
                     /db_xref="dbSNP:759827541"
     variation       111
                     /replace="p"
                     /db_xref="dbSNP:771741537"
     variation       112
                     /replace="f"
                     /db_xref="dbSNP:1060503711"
     variation       112
                     /replace="l"
                     /db_xref="dbSNP:775074528"
     variation       114
                     /replace="s"
                     /db_xref="dbSNP:1479127918"
     variation       115
                     /replace="i"
                     /db_xref="dbSNP:375067326"
     variation       118
                     /replace="r"
                     /db_xref="dbSNP:1060503712"
     variation       119
                     /replace="q"
                     /db_xref="dbSNP:763578369"
     variation       121
                     /replace="c"
                     /db_xref="dbSNP:1464540890"
     variation       123
                     /replace="c"
                     /db_xref="dbSNP:776193478"
     variation       123
                     /replace="h"
                     /db_xref="dbSNP:587782076"
     variation       123
                     /replace="r"
                     /db_xref="dbSNP:765157205"
     variation       124
                     /replace="a"
                     /db_xref="dbSNP:181278759"
     variation       126
                     /replace="c"
                     /db_xref="dbSNP:766258363"
     variation       127
                     /replace="r"
                     /db_xref="dbSNP:753004001"
     variation       128
                     /replace="h"
                     /db_xref="dbSNP:769454045"
     variation       128
                     /replace="r"
                     /db_xref="dbSNP:1269124718"
     variation       129
                     /replace="s"
                     /db_xref="dbSNP:756351128"
     variation       130
                     /replace="l"
                     /db_xref="dbSNP:749329370"
     variation       130
                     /replace="p"
                     /db_xref="dbSNP:777770952"
     variation       131
                     /replace="k"
                     /db_xref="dbSNP:1207914111"
     variation       131
                     /replace="s"
                     /db_xref="dbSNP:753165149"
     variation       133
                     /replace="r"
                     /db_xref="dbSNP:1305547879"
     variation       134
                     /replace="k"
                     /db_xref="dbSNP:757707693"
     variation       134
                     /replace="r"
                     /db_xref="dbSNP:1269170598"
     variation       135
                     /replace="g"
                     /db_xref="dbSNP:61733344"
     variation       136
                     /replace="g"
                     /db_xref="dbSNP:147444427"
     variation       136
                     /replace="r"
                     /db_xref="dbSNP:148246073"
     variation       137
                     /replace="*"
                     /db_xref="dbSNP:775827529"
     variation       137
                     /replace="p"
                     /db_xref="dbSNP:1179470589"
     variation       138
                     /replace="a"
                     /db_xref="dbSNP:199618059"
     variation       138
                     /replace="g"
                     /db_xref="dbSNP:1173940446"
     variation       139
                     /replace="r"
                     /db_xref="dbSNP:1236616384"
     variation       140
                     /replace="g"
                     /db_xref="dbSNP:553257776"
     variation       140
                     /replace="q"
                     /db_xref="dbSNP:139881415"
     variation       142
                     /replace="c"
                     /db_xref="dbSNP:1060505008"
     variation       142
                     /replace="r"
                     /db_xref="dbSNP:908267345"
     variation       143
                     /replace="c"
                     /db_xref="dbSNP:765111856"
     variation       143
                     /replace="y"
                     /db_xref="dbSNP:1393298155"
     variation       144
                     /replace="g"
                     /db_xref="dbSNP:1231756170"
     variation       144
                     /replace="m"
                     /db_xref="dbSNP:773334818"
     variation       147
                     /replace="q"
                     /db_xref="dbSNP:762956849"
     variation       147
                     /replace="r"
                     /db_xref="dbSNP:766339992"
     variation       147
                     /replace="w"
                     /db_xref="dbSNP:1337777456"
     variation       148
                     /replace="t"
                     /db_xref="dbSNP:1278276778"
     variation       151
                     /replace="l"
                     /db_xref="dbSNP:878854633"
     variation       151
                     /replace="s"
                     /db_xref="dbSNP:141874250"
     variation       151
                     /replace="t"
                     /db_xref="dbSNP:770407681"
     variation       152
                     /replace="l"
                     /db_xref="dbSNP:201967413"
     variation       152
                     /replace="l"
                     /db_xref="dbSNP:764307917"
     variation       153
                     /replace="s"
                     /db_xref="dbSNP:150646390"
     variation       154
                     /replace="h"
                     /db_xref="dbSNP:1487422271"
     variation       154
                     /replace="p"
                     /db_xref="dbSNP:899368013"
     variation       155
                     /replace="a"
                     /db_xref="dbSNP:373340696"
     variation       157
                     /replace="*"
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     variation       359
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     variation       361
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     variation       363
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     variation       365
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     variation       368
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                     /replace="n"
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                     /replace="s"
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     variation       369
                     /replace="c"
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     variation       369
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     variation       371
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                     /db_xref="dbSNP:1294693469"
     variation       375
                     /replace="r"
                     /db_xref="dbSNP:1404639088"
     variation       376
                     /replace="h"
                     /db_xref="dbSNP:754805626"
     variation       377
                     /replace="g"
                     /db_xref="dbSNP:200047573"
     variation       377
                     /replace="l"
                     /db_xref="dbSNP:201822097"
     variation       378
                     /replace="s"
                     /db_xref="dbSNP:1060503725"
     variation       379
                     /replace="g"
                     /db_xref="dbSNP:561918468"
     variation       381
                     /replace="n"
                     /db_xref="dbSNP:988419580"
     variation       382
                     /replace="h"
                     /db_xref="dbSNP:772728779"
     variation       383
                     /replace="t"
                     /db_xref="dbSNP:776188923"
     variation       384
                     /replace="a"
                     /db_xref="dbSNP:1490844767"
     variation       384
                     /replace="v"
                     /db_xref="dbSNP:1223308548"
     variation       385
                     /replace="l"
                     /db_xref="dbSNP:747488969"
     variation       385
                     /replace="p"
                     /db_xref="dbSNP:144473374"
     variation       386
                     /replace="s"
                     /db_xref="dbSNP:529198317"
     variation       387
                     /replace="l"
                     /db_xref="dbSNP:35964044"
     variation       388
                     /replace="h"
                     /db_xref="dbSNP:772729820"
     variation       388
                     /replace="y"
                     /db_xref="dbSNP:762494024"
     variation       389
                     /replace="a"
                     /db_xref="dbSNP:377506772"
     variation       390
                     /replace="f"
                     /db_xref="dbSNP:1424809160"
     variation       391
                     /replace="-"
                     /db_xref="dbSNP:768469627"
     variation       391
                     /replace="e"
                     /db_xref="dbSNP:374086655"
     variation       393
                     /replace="a"
                     /db_xref="dbSNP:751561561"
     variation       394
                     /replace="t"
                     /db_xref="dbSNP:754893758"
     variation       396
                     /replace="a"
                     /db_xref="dbSNP:1060505011"
     variation       397
                     /replace="l"
                     /db_xref="dbSNP:1296066077"
     variation       397
                     /replace="s"
                     /db_xref="dbSNP:200223188"
     variation       398
                     /replace="a"
                     /db_xref="dbSNP:201741295"
     variation       398
                     /replace="v"
                     /db_xref="dbSNP:1313266403"
     variation       399
                     /replace="r"
                     /db_xref="dbSNP:779151375"
     variation       400
                     /replace="g"
                     /db_xref="dbSNP:551497992"
     variation       400
                     /replace="s"
                     /db_xref="dbSNP:1064795863"
     variation       400
                     /replace="v"
                     /db_xref="dbSNP:746065356"
     variation       401
                     /replace="p"
                     /db_xref="dbSNP:1485193902"
     variation       401
                     /replace="v"
                     /db_xref="dbSNP:201139275"
     variation       402
                     /replace="n"
                     /db_xref="dbSNP:533902090"
     variation       403
                     /replace="h"
                     /db_xref="dbSNP:370690436"
     variation       403
                     /replace="r"
                     /db_xref="dbSNP:555342133"
     variation       404
                     /replace="f"
                     /db_xref="dbSNP:1064796477"
     variation       404
                     /replace="l"
                     /db_xref="dbSNP:748496836"
     variation       405
                     /replace="e"
                     /db_xref="dbSNP:1169286790"
     variation       405
                     /replace="r"
                     /db_xref="dbSNP:770028533"
     variation       406
                     /replace="t"
                     /db_xref="dbSNP:1057517550"
     variation       407
                     /replace="h"
                     /db_xref="dbSNP:567820710"
     variation       408
                     /replace="l"
                     /db_xref="dbSNP:76896145"
     variation       408
                     /replace="s"
                     /db_xref="dbSNP:149875171"
     variation       409
                     /replace="l"
                     /db_xref="dbSNP:75091805"
     variation       412
                     /replace="l"
                     /db_xref="dbSNP:760686493"
     variation       413
                     /replace="a"
                     /db_xref="dbSNP:767452676"
     variation       413
                     /replace="f"
                     /db_xref="dbSNP:373021394"
     variation       417
                     /replace="q"
                     /db_xref="dbSNP:138277996"
     variation       417
                     /replace="r"
                     /db_xref="dbSNP:752461029"
     variation       418
                     /replace="a"
                     /db_xref="dbSNP:878854626"
     variation       418
                     /replace="t"
                     /db_xref="dbSNP:111387770"
     variation       419
                     /replace="s"
                     /db_xref="dbSNP:1315131938"
     variation       420
                     /replace="d"
                     /db_xref="dbSNP:1057524636"
     variation       422
                     /replace="n"
                     /db_xref="dbSNP:1241820374"
     variation       422
                     /replace="s"
                     /db_xref="dbSNP:556476038"
     variation       423
                     /replace="i"
                     /db_xref="dbSNP:34779890"
     variation       424
                     /replace="a"
                     /db_xref="dbSNP:200305419"
     variation       424
                     /replace="k"
                     /db_xref="dbSNP:143798161"
     variation       425
                     /replace="e"
                     /db_xref="dbSNP:898003329"
     variation       426
                     /replace="s"
                     /db_xref="dbSNP:201868424"
     variation       427
                     /replace="r"
                     /db_xref="dbSNP:781747137"
     variation       427
                     /replace="s"
                     /db_xref="dbSNP:748567636"
     variation       428
                     /replace="r"
                     /db_xref="dbSNP:377415114"
     variation       429
                     /replace="l"
                     /db_xref="dbSNP:146990772"
     variation       429
                     /replace="s"
                     /db_xref="dbSNP:770506764"
     variation       430
                     /replace="*"
                     /db_xref="dbSNP:759041443"
     variation       433
                     /replace="v"
                     /db_xref="dbSNP:751871185"
     variation       434
                     /replace="h"
                     /db_xref="dbSNP:759661610"
     variation       434
                     /replace="p"
                     /db_xref="dbSNP:767646499"
     variation       434
                     /replace="s"
                     /db_xref="dbSNP:1205384855"
     variation       436
                     /replace="v"
                     /db_xref="dbSNP:1224049828"
     variation       438
                     /replace="t"
                     /db_xref="dbSNP:1060503706"
     variation       439
                     /replace="h"
                     /db_xref="dbSNP:1208182306"
     variation       439
                     /replace="n"
                     /db_xref="dbSNP:187540602"
     variation       440
                     /replace="t"
                     /db_xref="dbSNP:369100772"
     variation       440
                     /replace="v"
                     /db_xref="dbSNP:1421325038"
     variation       441
                     /replace="a"
                     /db_xref="dbSNP:1430552498"
     variation       443
                     /replace="*"
                     /db_xref="dbSNP:778207102"
     variation       443
                     /replace="a"
                     /db_xref="dbSNP:754324916"
     variation       444
                     /replace="s"
                     /db_xref="dbSNP:1376968004"
     variation       447
                     /replace="d"
                     /db_xref="dbSNP:757663708"
     variation       448
                     /replace="i"
                     /db_xref="dbSNP:1305001616"
     variation       450
                     /replace="q"
                     /db_xref="dbSNP:372039270"
     variation       450
                     /replace="r"
                     /db_xref="dbSNP:745592653"
     variation       451
                     /replace="l"
                     /db_xref="dbSNP:1320988567"
     variation       453
                     /replace="y"
                     /db_xref="dbSNP:757932443"
     variation       454
                     /replace="a"
                     /db_xref="dbSNP:1364448678"
     variation       457
                     /replace="n"
                     /db_xref="dbSNP:1060503722"
     variation       458
                     /replace="m"
                     /db_xref="dbSNP:955444699"
     variation       460
                     /replace="i"
                     /db_xref="dbSNP:151266052"
     variation       460
                     /replace="s"
                     /db_xref="dbSNP:1060503718"
     variation       460
                     /replace="t"
                     /db_xref="dbSNP:1356814435"
     variation       461
                     /replace="*"
                     /db_xref="dbSNP:1064793567"
     variation       461
                     /replace="s"
                     /db_xref="dbSNP:746453879"
     variation       461
                     /replace="w"
                     /db_xref="dbSNP:397514541"
     variation       463
                     /replace="l"
                     /db_xref="dbSNP:876658698"
     variation       463
                     /replace="p"
                     /db_xref="dbSNP:375194444"
     variation       463
                     /replace="v"
                     /db_xref="dbSNP:768257880"
     variation       464
                     /replace="*"
                     /db_xref="dbSNP:748089700"
     variation       464
                     /replace="p"
                     /db_xref="dbSNP:192818312"
     variation       466
                     /replace="r"
                     /db_xref="dbSNP:1301221379"
     variation       466
                     /replace="t"
                     /db_xref="dbSNP:587781729"
     Region          467..616
                     /region_name="Succ_DH_flav_C"
                     /note="Fumarate reductase flavoprotein C-term; pfam02910"
                     /db_xref="CDD:280980"
     variation       468
                     /replace="e"
                     /db_xref="dbSNP:1251348764"
     variation       468
                     /replace="l"
                     /db_xref="dbSNP:981171929"
     variation       469
                     /replace="e"
                     /db_xref="dbSNP:786205210"
     variation       469
                     /replace="k"
                     /db_xref="dbSNP:772822136"
     variation       471
                     /replace="t"
                     /db_xref="dbSNP:377706701"
     variation       472
                     /replace="h"
                     /db_xref="dbSNP:1261025402"
     variation       474
                     /replace="-"
                     /db_xref="dbSNP:1325342549"
     variation       475
                     /replace="a"
                     /db_xref="dbSNP:150192376"
     variation       476
                     /replace="a"
                     /db_xref="dbSNP:185679709"
     variation       476
                     /replace="v"
                     /db_xref="dbSNP:137852767"
     variation       477
                     /replace="m"
                     /db_xref="dbSNP:979815942"
     variation       477
                     /replace="v"
                     /db_xref="dbSNP:766757653"
     variation       479
                     /replace="c"
                     /db_xref="dbSNP:138723511"
     variation       479
                     /replace="h"
                     /db_xref="dbSNP:766352407"
     variation       481
                     /replace="r"
                     /db_xref="dbSNP:370291114"
     variation       482
                     /replace="s"
                     /db_xref="dbSNP:1060503701"
     variation       483
                     /replace="m"
                     /db_xref="dbSNP:371056571"
     variation       484
                     /replace="f"
                     /db_xref="dbSNP:1449742263"
     variation       485
                     /replace="e"
                     /db_xref="dbSNP:149367009"
     variation       485
                     /replace="p"
                     /db_xref="dbSNP:1395387473"
     variation       485
                     /replace="q"
                     /db_xref="dbSNP:1407806818"
     variation       487
                     /replace="c"
                     /db_xref="dbSNP:777622021"
     variation       487
                     /replace="g"
                     /db_xref="dbSNP:1219265731"
     variation       489
                     /replace="a"
                     /db_xref="dbSNP:1192321920"
     variation       489
                     /replace="g"
                     /db_xref="dbSNP:1060505009"
     variation       491
                     /replace="n"
                     /db_xref="dbSNP:1060503715"
     variation       491
                     /replace="s"
                     /db_xref="dbSNP:749219128"
     variation       492
                     /replace="n"
                     /db_xref="dbSNP:1281362761"
     variation       493
                     /replace="k"
                     /db_xref="dbSNP:35502109"
     variation       494
                     /replace="l"
                     /db_xref="dbSNP:1269358534"
     variation       494
                     /replace="p"
                     /db_xref="dbSNP:1233761838"
     variation       495
                     /replace="c"
                     /db_xref="dbSNP:778670859"
     variation       495
                     /replace="h"
                     /db_xref="dbSNP:1339009840"
     variation       495
                     /replace="y"
                     /db_xref="dbSNP:747249998"
     variation       496
                     /replace="r"
                     /db_xref="dbSNP:1338347881"
     variation       498
                     /replace="l"
                     /db_xref="dbSNP:1041963"
     variation       498
                     /replace="r"
                     /db_xref="dbSNP:1483390447"
     variation       499
                     /replace="n"
                     /db_xref="dbSNP:1267429398"
     variation       499
                     /replace="q"
                     /db_xref="dbSNP:1221826146"
     variation       500
                     /replace="h"
                     /db_xref="dbSNP:1126427"
     variation       502
                     /replace="*"
                     /db_xref="dbSNP:1400219619"
     variation       502
                     /replace="k"
                     /db_xref="dbSNP:1359705251"
     variation       503
                     /replace="a"
                     /db_xref="dbSNP:1200051286"
     variation       503
                     /replace="m"
                     /db_xref="dbSNP:181238392"
     variation       503
                     /replace="t"
                     /db_xref="dbSNP:761927291"
     variation       504
                     /replace="f"
                     /db_xref="dbSNP:1170030451"
     variation       505
                     /replace="a"
                     /db_xref="dbSNP:1060503723"
     variation       505
                     /replace="n"
                     /db_xref="dbSNP:769882609"
     variation       506
                     /replace="p"
                     /db_xref="dbSNP:376391115"
     variation       506
                     /replace="w"
                     /db_xref="dbSNP:9809219"
     variation       507
                     /replace="*"
                     /db_xref="dbSNP:1392860800"
     variation       507
                     /replace="e"
                     /db_xref="dbSNP:137852768"
     variation       508
                     /replace="v"
                     /db_xref="dbSNP:980397872"
     variation       509
                     /replace="v"
                     /db_xref="dbSNP:767963713"
     variation       512
                     /replace="a"
                     /db_xref="dbSNP:1269114291"
     variation       512
                     /replace="m"
                     /db_xref="dbSNP:775350508"
     variation       512
                     /replace="t"
                     /db_xref="dbSNP:1139449"
     variation       516
                     /replace="e"
                     /db_xref="dbSNP:368388954"
     variation       516
                     /replace="v"
                     /db_xref="dbSNP:763529675"
     variation       517
                     /replace="n"
                     /db_xref="dbSNP:757176672"
     variation       517
                     /replace="t"
                     /db_xref="dbSNP:765113103"
     variation       518
                     /replace="v"
                     /db_xref="dbSNP:142936520"
     variation       521
                     /replace="q"
                     /db_xref="dbSNP:959934068"
     variation       521
                     /replace="r"
                     /db_xref="dbSNP:1159670475"
     variation       522
                     /replace="n"
                     /db_xref="dbSNP:1404993199"
     variation       523
                     /replace="l"
                     /db_xref="dbSNP:1377424433"
     variation       525
                     /replace="l"
                     /db_xref="dbSNP:17415917"
     variation       525
                     /replace="v"
                     /db_xref="dbSNP:1445945083"
     variation       527
                     /replace="a"
                     /db_xref="dbSNP:758252610"
     variation       527
                     /replace="t"
                     /db_xref="dbSNP:1301370839"
     variation       527
                     /replace="v"
                     /db_xref="dbSNP:750327309"
     variation       528
                     /replace="l"
                     /db_xref="dbSNP:779807887"
     variation       528
                     /replace="p"
                     /db_xref="dbSNP:1318046349"
     variation       530
                     /replace="i"
                     /db_xref="dbSNP:1349207461"
     variation       530
                     /replace="t"
                     /db_xref="dbSNP:748328205"
     variation       531
                     /replace="i"
                     /db_xref="dbSNP:201454617"
     variation       531
                     /replace="t"
                     /db_xref="dbSNP:1323205068"
     variation       531
                     /replace="v"
                     /db_xref="dbSNP:1042052"
     variation       532
                     /replace="c"
                     /db_xref="dbSNP:372707443"
     variation       532
                     /replace="n"
                     /db_xref="dbSNP:1042056"
     variation       532
                     /replace="y"
                     /db_xref="dbSNP:3181540"
     variation       533
                     /replace="r"
                     /db_xref="dbSNP:771111180"
     variation       536
                     /replace="a"
                     /db_xref="dbSNP:13070"
     variation       536
                     /replace="t"
                     /db_xref="dbSNP:878854629"
     variation       536
                     /replace="v"
                     /db_xref="dbSNP:201068049"
     variation       537
                     /replace="g"
                     /db_xref="dbSNP:200397144"
     variation       537
                     /replace="q"
                     /db_xref="dbSNP:752360961"
     variation       537
                     /replace="r"
                     /db_xref="dbSNP:760254364"
     variation       541
                     /replace="q"
                     /db_xref="dbSNP:763766162"
     variation       541
                     /replace="w"
                     /db_xref="dbSNP:387906780"
     variation       542
                     /replace="g"
                     /db_xref="dbSNP:142457602"
     variation       543
                     /replace="a"
                     /db_xref="dbSNP:555028212"
     variation       543
                     /replace="t"
                     /db_xref="dbSNP:1042170"
     variation       543
                     /replace="v"
                     /db_xref="dbSNP:367621815"
     variation       544
                     /replace="h"
                     /db_xref="dbSNP:1126538"
     variation       546
                     /replace="k"
                     /db_xref="dbSNP:1302547655"
     variation       546
                     /replace="r"
                     /db_xref="dbSNP:751329013"
     variation       547
                     /replace="*"
                     /db_xref="dbSNP:756312616"
     variation       548
                     /replace="g"
                     /db_xref="dbSNP:1126557"
     variation       548
                     /replace="y"
                     /db_xref="dbSNP:371304688"
     variation       549
                     /replace="h"
                     /db_xref="dbSNP:1060503721"
     variation       549
                     /replace="y"
                     /db_xref="dbSNP:1226155499"
     variation       551
                     /replace="m"
                     /db_xref="dbSNP:574659983"
     variation       551
                     /replace="v"
                     /db_xref="dbSNP:1060505012"
     variation       552
                     /replace="q"
                     /db_xref="dbSNP:1126568"
     variation       552
                     /replace="w"
                     /db_xref="dbSNP:878854630"
     variation       555
                     /replace="k"
                     /db_xref="dbSNP:1332545587"
     variation       556
                     /replace="y"
                     /db_xref="dbSNP:1436919553"
     variation       557
                     /replace="e"
                     /db_xref="dbSNP:1341691681"
     variation       557
                     /replace="n"
                     /db_xref="dbSNP:771593214"
     variation       558
                     /replace="h"
                     /db_xref="dbSNP:17400614"
     variation       558
                     /replace="y"
                     /db_xref="dbSNP:1226342299"
     variation       559
                     /replace="c"
                     /db_xref="dbSNP:775611963"
     variation       559
                     /replace="p"
                     /db_xref="dbSNP:1183122120"
     variation       561
                     /replace="p"
                     /db_xref="dbSNP:1060505006"
     variation       562
                     /replace="m"
                     /db_xref="dbSNP:1209697697"
     variation       564
                     /replace="e"
                     /db_xref="dbSNP:1057523336"
     variation       567
                     /replace="n"
                     /db_xref="dbSNP:1442827207"
     variation       568
                     /replace="e"
                     /db_xref="dbSNP:1453752069"
     variation       568
                     /replace="k"
                     /db_xref="dbSNP:1189442479"
     variation       569
                     /replace="l"
                     /db_xref="dbSNP:1485754812"
     variation       569
                     /replace="s"
                     /db_xref="dbSNP:1199988395"
     variation       571
                     /replace="e"
                     /db_xref="dbSNP:1247081812"
     variation       572
                     /replace="e"
                     /db_xref="dbSNP:1447230295"
     variation       575
                     /replace="k"
                     /db_xref="dbSNP:13992"
     variation       579
                     /replace="l"
                     /db_xref="dbSNP:1169965410"
     variation       579
                     /replace="l"
                     /db_xref="dbSNP:1390181757"
     variation       580
                     /replace="s"
                     /db_xref="dbSNP:1224468457"
     variation       581
                     /replace="c"
                     /db_xref="dbSNP:6960"
     variation       581
                     /replace="l"
                     /db_xref="dbSNP:750865703"
     variation       581
                     /replace="l"
                     /db_xref="dbSNP:765604736"
     variation       581
                     /replace="y"
                     /db_xref="dbSNP:1161452640"
     variation       582
                     /replace="a"
                     /db_xref="dbSNP:1392791825"
     variation       582
                     /replace="v"
                     /db_xref="dbSNP:1405784467"
     variation       583
                     /replace="d"
                     /db_xref="dbSNP:1364764796"
     variation       583
                     /replace="y"
                     /db_xref="dbSNP:776500078"
     variation       584
                     /replace="a"
                     /db_xref="dbSNP:774609159"
     variation       584
                     /replace="f"
                     /db_xref="dbSNP:369639811"
     variation       586
                     /replace="a"
                     /db_xref="dbSNP:1017441235"
     variation       587
                     /replace="g"
                     /db_xref="dbSNP:1327040639"
     variation       588
                     /replace="n"
                     /db_xref="dbSNP:1244151760"
     variation       589
                     /replace="f"
                     /db_xref="dbSNP:769599373"
     variation       589
                     /replace="v"
                     /db_xref="dbSNP:11557098"
     variation       590
                     /replace="i"
                     /db_xref="dbSNP:370133236"
     variation       591
                     /replace="g"
                     /db_xref="dbSNP:1224000198"
     variation       591
                     /replace="v"
                     /db_xref="dbSNP:1126697"
     variation       592
                     /replace="g"
                     /db_xref="dbSNP:372480044"
     variation       593
                     /replace="c"
                     /db_xref="dbSNP:1385127518"
     variation       593
                     /replace="y"
                     /db_xref="dbSNP:1444319863"
     variation       595
                     /replace="p"
                     /db_xref="dbSNP:761201589"
     variation       595
                     /replace="r"
                     /db_xref="dbSNP:1060503717"
     variation       596
                     /replace="m"
                     /db_xref="dbSNP:3211483"
     variation       596
                     /replace="v"
                     /db_xref="dbSNP:6961"
     variation       597
                     /replace="i"
                     /db_xref="dbSNP:762128553"
     variation       597
                     /replace="t"
                     /db_xref="dbSNP:1282623859"
     variation       598
                     /replace="n"
                     /db_xref="dbSNP:376986935"
     variation       600
                     /replace="p"
                     /db_xref="dbSNP:758054627"
     variation       600
                     /replace="s"
                     /db_xref="dbSNP:1420345359"
     variation       601
                     /replace="e"
                     /db_xref="dbSNP:112307877"
     variation       601
                     /replace="f"
                     /db_xref="dbSNP:1257258254"
     variation       601
                     /replace="f"
                     /db_xref="dbSNP:901491121"
     variation       601
                     /replace="s"
                     /db_xref="dbSNP:899598021"
     variation       602
                     /replace="n"
                     /db_xref="dbSNP:1042430"
     variation       602
                     /replace="s"
                     /db_xref="dbSNP:1485747007"
     variation       603
                     /replace="k"
                     /db_xref="dbSNP:375396913"
     variation       605
                     /replace="d"
                     /db_xref="dbSNP:781029975"
     variation       606
                     /replace="g"
                     /db_xref="dbSNP:60587941"
     variation       608
                     /replace="t"
                     /db_xref="dbSNP:3211499"
     variation       609
                     /replace="a"
                     /db_xref="dbSNP:777565341"
     variation       609
                     /replace="i"
                     /db_xref="dbSNP:6962"
     variation       609
                     /replace="v"
                     /db_xref="dbSNP:746083858"
     variation       610
                     /replace="l"
                     /db_xref="dbSNP:377632619"
     variation       610
                     /replace="p"
                     /db_xref="dbSNP:1042446"
     variation       611
                     /replace="p"
                     /db_xref="dbSNP:768693502"
     variation       611
                     /replace="q"
                     /db_xref="dbSNP:1310267623"
     variation       612
                     /replace="g"
                     /db_xref="dbSNP:191412461"
     variation       613
                     /replace="t"
                     /db_xref="dbSNP:111540173"
     variation       613
                     /replace="v"
                     /db_xref="dbSNP:112937607"
     variation       614
                     /replace="h"
                     /db_xref="dbSNP:1042457"
     variation       614
                     /replace="r"
                     /db_xref="dbSNP:762372686"
     variation       615
                     /replace="f"
                     /db_xref="dbSNP:1060503719"
     CDS             1..616
                     /gene="SDHA"
                     /gene_synonym="CMD1GG; FP; PGL5; SDH1; SDH2; SDHF"
                     /coded_by="NM_001294332.1:134..1984"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS77992.1"
                     /db_xref="GeneID:6389"
                     /db_xref="HGNC:HGNC:10680"
                     /db_xref="MIM:600857"
ORIGIN      
        1 msgvrglsrl lsarrlalak awptvlqtgt rgfhftvdgn krasakvsds isaqypvvdh
       61 efdavvvgag gaglraafgl seagfntacv tklfptrsht vaaqlenygm pfsrtedgki
      121 yqrafggqsl kfgkggqahr cccvadrtgh sllhtlygrs lrydtsyfve yfaldllmen
      181 gecrgvialc iedgsihrir akntvvatgg ygrtyfscts ahtstgdgta mitraglpcq
      241 dlefvqfhpt giygagclit egcrgeggil insqgerfme ryapvakdla srdvvsrsmt
      301 leiregrgcg pekdhvylql hhlppeqlat rlpgisetam ifagvdvtke pipvlptvhy
      361 nmggiptnyk gqvlrhvngq dqivpglyac geaacasvhg anrlgansll dlvvfgraca
      421 lsieescrpg dkvppikpna geesvmnldk lrfadgsirt selrlsmqks mqnhaavfrv
      481 gsvlqegcgk isklygdlkh lktfdrgmvw ntdlvetlel qnlmlcalqt iygaearkes
      541 rgaharedyk vrideydysk piqgqqkkpf eehwrkhtls yvdvgtgkvt leyrpvidkt
      601 lneadcatvp pairsy
//
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