ID MFRP_HUMAN Reviewed; 579 AA.
AC Q9BY79; B0YJ36; B0YJ37; B4DHN8; Q335M3; Q96DQ9;
DT 21-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 27-MAR-2024, entry version 166.
DE RecName: Full=Membrane frizzled-related protein;
DE AltName: Full=Membrane-type frizzled-related protein;
GN Name=MFRP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=11263980; DOI=10.1006/bbrc.2001.4551;
RA Katoh M.;
RT "Molecular cloning and characterization of MFRP, a novel gene encoding a
RT membrane-type frizzled-related protein.";
RL Biochem. Biophys. Res. Commun. 282:116-123(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT MET-136.
RX PubMed=16123440; DOI=10.1167/iovs.05-0007;
RA Mandal M.N.A., Heckenlively J.R., Burch T., Chen L., Vasireddy V.,
RA Koenekoop R.K., Sieving P.A., Ayyagari R.;
RT "Sequencing arrays for screening multiple genes associated with early-onset
RT human retinal degenerations on a high-throughput platform.";
RL Invest. Ophthalmol. Vis. Sci. 46:3355-3362(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Caudate nucleus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ASP-259.
RG NHLBI resequencing and genotyping service (RS&G);
RL Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP INTERACTION WITH C1QTNF5.
RX PubMed=17122143; DOI=10.1167/iovs.06-0449;
RA Mandal M.N., Vasireddy V., Jablonski M.M., Wang X., Heckenlively J.R.,
RA Hughes B.A., Reddy G.B., Ayyagari R.;
RT "Spatial and temporal expression of MFRP and its interaction with CTRP5.";
RL Invest. Ophthalmol. Vis. Sci. 47:5514-5521(2006).
RN [8]
RP TISSUE SPECIFICITY.
RX PubMed=16442268; DOI=10.1016/j.jdermsci.2005.12.011;
RA Yang L., Yamasaki K., Shirakata Y., Dai X., Tokumaru S., Yahata Y.,
RA Tohyama M., Hanakawa Y., Sayama K., Hashimoto K.;
RT "Bone morphogenetic protein-2 modulates Wnt and frizzled expression and
RT enhances the canonical pathway of Wnt signaling in normal keratinocytes.";
RL J. Dermatol. Sci. 42:111-119(2006).
RN [9]
RP VARIANTS GLY-54; VAL-119; MET-136; SER-449 AND HIS-514.
RX PubMed=16352475; DOI=10.1080/13816810500374425;
RA Pauer G.J.T., Xi Q., Zhang K., Traboulsi E.I., Hagstrom S.A.;
RT "Mutation screen of the membrane-type frizzled-related protein (MFRP) gene
RT in patients with inherited retinal degenerations.";
RL Ophthalmic Genet. 26:157-161(2005).
RN [10]
RP VARIANT NNO2 THR-182, AND FUNCTION.
RX PubMed=15976030; DOI=10.1073/pnas.0501451102;
RA Sundin O.H., Leppert G.S., Silva E.D., Yang J.-M., Dharmaraj S.,
RA Maumenee I.H., Santos L.C., Parsa C.F., Traboulsi E.I., Broman K.W.,
RA Dibernardo C., Sunness J.S., Toy J., Weinberg E.M.;
RT "Extreme hyperopia is the result of null mutations in MFRP, which encodes a
RT frizzled-related protein.";
RL Proc. Natl. Acad. Sci. U.S.A. 102:9553-9558(2005).
RN [11]
RP INVOLVEMENT IN MCOP5.
RX PubMed=17167404;
RA Ayala-Ramirez R., Graue-Wiechers F., Robredo V., Amato-Almanza M.,
RA Horta-Diez I., Zenteno J.C.;
RT "A new autosomal recessive syndrome consisting of posterior microphthalmos,
RT retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a
RT MFRP gene mutation.";
RL Mol. Vis. 12:1483-1489(2006).
RN [12]
RP VARIANTS THR-222; TRP-517 AND CYS-539.
RX PubMed=26583794; DOI=10.1097/opx.0000000000000751;
RA Xu Y., Guan L., Xiao X., Zhang J., Li S., Jiang H., Jia X., Yin Y., Guo X.,
RA Yang Z., Zhang Q.;
RT "Identification of MFRP mutations in chinese families with high
RT hyperopia.";
RL Optom. Vis. Sci. 93:19-26(2016).
CC -!- FUNCTION: May play a role in eye development.
CC {ECO:0000269|PubMed:15976030}.
CC -!- SUBUNIT: Interacts with C1QTNF5. {ECO:0000269|PubMed:17122143}.
CC -!- INTERACTION:
CC Q9BY79; Q9BXJ0: C1QTNF5; NbExp=3; IntAct=EBI-29375513, EBI-19947914;
CC Q9BY79; PRO_0000003535 [Q9BXJ0]: C1QTNF5; NbExp=5; IntAct=EBI-29375513, EBI-34575799;
CC Q9BY79; Q8K479: C1qtnf5; Xeno; NbExp=6; IntAct=EBI-29375513, EBI-29374993;
CC -!- SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}; Single-pass
CC type II membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BY79-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BY79-2; Sequence=VSP_055928, VSP_055929;
CC -!- TISSUE SPECIFICITY: Specifically expressed in brain. Strongly expressed
CC in medulla oblongata and to a lower extent in hippocampus and corpus
CC callosum. Expressed in keratinocytes. {ECO:0000269|PubMed:11263980,
CC ECO:0000269|PubMed:16442268}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal brain.
CC {ECO:0000269|PubMed:11263980}.
CC -!- DISEASE: Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive
CC disorder of eye development characterized by extreme hyperopia and
CC small functional eyes. {ECO:0000269|PubMed:15976030}. Note=The disease
CC is caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder
CC characterized by posterior microphthalmia, retinitis pigmentosa,
CC foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye
CC formation, ranging from small size of a single eye to complete
CC bilateral absence of ocular tissues. Ocular abnormalities like
CC opacities of the cornea and lens, scaring of the retina and choroid,
CC and other abnormalities may also be present.
CC {ECO:0000269|PubMed:17167404}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: This protein is produced by a bicistronic gene which
CC also produces the C1QTNF5 protein from a non-overlapping reading frame.
CC ---------------------------------------------------------------------------
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DR EMBL; AB055505; BAB39771.1; -; mRNA.
DR EMBL; AJ862823; CAH93521.1; -; mRNA.
DR EMBL; AK055132; BAB70859.1; -; mRNA.
DR EMBL; AK295203; BAG58200.1; -; mRNA.
DR EMBL; EF444994; ACA06013.1; -; Genomic_DNA.
DR EMBL; EF444994; ACA06015.1; -; Genomic_DNA.
DR EMBL; AP003396; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471065; EAW67483.1; -; Genomic_DNA.
DR CCDS; CCDS8421.1; -. [Q9BY79-1]
DR PIR; JC7629; JC7629.
DR RefSeq; NP_113621.1; NM_031433.3. [Q9BY79-1]
DR AlphaFoldDB; Q9BY79; -.
DR SMR; Q9BY79; -.
DR IntAct; Q9BY79; 2.
DR MINT; Q9BY79; -.
DR STRING; 9606.ENSP00000481824; -.
DR GlyCosmos; Q9BY79; 2 sites, No reported glycans.
DR GlyGen; Q9BY79; 2 sites.
DR PhosphoSitePlus; Q9BY79; -.
DR BioMuta; MFRP; -.
DR DMDM; 74717666; -.
DR PaxDb; 9606-ENSP00000391664; -.
DR PeptideAtlas; Q9BY79; -.
DR ProteomicsDB; 4232; -.
DR ProteomicsDB; 79601; -. [Q9BY79-1]
DR Antibodypedia; 32688; 131 antibodies from 19 providers.
DR DNASU; 83552; -.
DR Ensembl; ENST00000360167.4; ENSP00000353291.4; ENSG00000235718.9. [Q9BY79-2]
DR Ensembl; ENST00000619721.6; ENSP00000481824.1; ENSG00000235718.9. [Q9BY79-1]
DR GeneID; 83552; -.
DR KEGG; hsa:83552; -.
DR MANE-Select; ENST00000619721.6; ENSP00000481824.1; NM_031433.4; NP_113621.1.
DR UCSC; uc001pwj.3; human. [Q9BY79-1]
DR AGR; HGNC:18121; -.
DR CTD; 83552; -.
DR DisGeNET; 83552; -.
DR GeneCards; MFRP; -.
DR HGNC; HGNC:18121; MFRP.
DR HPA; ENSG00000235718; Tissue enriched (choroid).
DR MalaCards; MFRP; -.
DR MIM; 606227; gene.
DR MIM; 609549; phenotype.
DR MIM; 611040; phenotype.
DR neXtProt; NX_Q9BY79; -.
DR OpenTargets; ENSG00000235718; -.
DR Orphanet; 251279; Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome.
DR Orphanet; 35612; Nanophthalmos.
DR PharmGKB; PA30776; -.
DR VEuPathDB; HostDB:ENSG00000235718; -.
DR eggNOG; KOG3577; Eukaryota.
DR eggNOG; KOG4292; Eukaryota.
DR GeneTree; ENSGT00940000154525; -.
DR HOGENOM; CLU_032137_0_0_1; -.
DR InParanoid; Q9BY79; -.
DR OMA; WMCDLWR; -.
DR OrthoDB; 5317198at2759; -.
DR PhylomeDB; Q9BY79; -.
DR TreeFam; TF316506; -.
DR PathwayCommons; Q9BY79; -.
DR BioGRID-ORCS; 83552; 14 hits in 1132 CRISPR screens.
DR GenomeRNAi; 83552; -.
DR Pharos; Q9BY79; Tbio.
DR PRO; PR:Q9BY79; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9BY79; Protein.
DR Bgee; ENSG00000235718; Expressed in primordial germ cell in gonad and 24 other cell types or tissues.
DR ExpressionAtlas; Q9BY79; baseline and differential.
DR Genevisible; Q9BY79; HS.
DR GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016020; C:membrane; TAS:UniProtKB.
DR GO; GO:0009792; P:embryo development ending in birth or egg hatching; NAS:UniProtKB.
DR GO; GO:0042462; P:eye photoreceptor cell development; IEA:Ensembl.
DR GO; GO:0060041; P:retina development in camera-type eye; IEA:Ensembl.
DR GO; GO:0007601; P:visual perception; IEA:Ensembl.
DR CDD; cd07066; CRD_FZ; 1.
DR CDD; cd00041; CUB; 2.
DR CDD; cd00112; LDLa; 2.
DR Gene3D; 1.10.2000.10; Frizzled cysteine-rich domain; 1.
DR Gene3D; 4.10.400.10; Low-density Lipoprotein Receptor; 2.
DR Gene3D; 2.60.120.290; Spermadhesin, CUB domain; 2.
DR InterPro; IPR000859; CUB_dom.
DR InterPro; IPR020067; Frizzled_dom.
DR InterPro; IPR036790; Frizzled_dom_sf.
DR InterPro; IPR036055; LDL_receptor-like_sf.
DR InterPro; IPR023415; LDLR_class-A_CS.
DR InterPro; IPR002172; LDrepeatLR_classA_rpt.
DR InterPro; IPR035914; Sperma_CUB_dom_sf.
DR PANTHER; PTHR24251:SF36; MEMBRANE FRIZZLED-RELATED PROTEIN; 1.
DR PANTHER; PTHR24251; OVOCHYMASE-RELATED; 1.
DR Pfam; PF00431; CUB; 2.
DR Pfam; PF01392; Fz; 1.
DR Pfam; PF00057; Ldl_recept_a; 1.
DR PRINTS; PR00261; LDLRECEPTOR.
DR SMART; SM00042; CUB; 2.
DR SMART; SM00063; FRI; 1.
DR SMART; SM00192; LDLa; 2.
DR SUPFAM; SSF63501; Frizzled cysteine-rich domain; 1.
DR SUPFAM; SSF57424; LDL receptor-like module; 2.
DR SUPFAM; SSF49854; Spermadhesin, CUB domain; 2.
DR PROSITE; PS01180; CUB; 2.
DR PROSITE; PS50038; FZ; 1.
DR PROSITE; PS01209; LDLRA_1; 1.
DR PROSITE; PS50068; LDLRA_2; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Disease variant; Disulfide bond;
KW Glycoprotein; Membrane; Microphthalmia; Reference proteome; Repeat;
KW Retinitis pigmentosa; Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..579
FT /note="Membrane frizzled-related protein"
FT /id="PRO_0000228132"
FT TOPO_DOM 1..69
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 70..90
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 91..579
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT DOMAIN 144..253
FT /note="CUB 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00059"
FT DOMAIN 259..295
FT /note="LDL-receptor class A 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00124"
FT DOMAIN 301..414
FT /note="CUB 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00059"
FT DOMAIN 420..455
FT /note="LDL-receptor class A 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00124"
FT DOMAIN 461..579
FT /note="FZ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00090"
FT REGION 100..143
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 105..143
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 227
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 415
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 144..170
FT /evidence="ECO:0000250"
FT DISULFID 197..216
FT /evidence="ECO:0000250"
FT DISULFID 260..272
FT /evidence="ECO:0000250"
FT DISULFID 267..285
FT /evidence="ECO:0000250"
FT DISULFID 279..294
FT /evidence="ECO:0000250"
FT DISULFID 301..327
FT /evidence="ECO:0000250"
FT DISULFID 354..377
FT /evidence="ECO:0000250"
FT DISULFID 421..433
FT /evidence="ECO:0000250"
FT DISULFID 428..446
FT /evidence="ECO:0000250"
FT DISULFID 440..454
FT /evidence="ECO:0000250"
FT DISULFID 466..528
FT /evidence="ECO:0000250"
FT DISULFID 474..521
FT /evidence="ECO:0000250"
FT DISULFID 512..549
FT /evidence="ECO:0000250"
FT DISULFID 538..576
FT /evidence="ECO:0000250"
FT DISULFID 542..564
FT /evidence="ECO:0000250"
FT VAR_SEQ 301..387
FT /note="CGGNLTGLQGTFSTPSYLQQYPHQLLCTWHISVPAGHSIELQFHNFSLEAQD
FT ECKFDYVEVYETSSSGAFSLLGRFCGAEPPPHLVS -> SVEQSHPPTSSPRTMSWLCC
FT LGQIMASAVEASQPPTWPSMPRRTPVGPVSSPARQEGVRVCSGCVTCGETAPMAAMTTA
FT AAPCSHPQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055928"
FT VAR_SEQ 388..505
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055929"
FT VARIANT 54
FT /note="R -> G (in dbSNP:rs139436396)"
FT /evidence="ECO:0000269|PubMed:16352475"
FT /id="VAR_025691"
FT VARIANT 119
FT /note="I -> V (in dbSNP:rs4639950)"
FT /evidence="ECO:0000269|PubMed:16352475"
FT /id="VAR_025692"
FT VARIANT 136
FT /note="V -> M (in dbSNP:rs3814762)"
FT /evidence="ECO:0000269|PubMed:16123440,
FT ECO:0000269|PubMed:16352475"
FT /id="VAR_025693"
FT VARIANT 182
FT /note="I -> T (in NNO2; dbSNP:rs121908190)"
FT /evidence="ECO:0000269|PubMed:15976030"
FT /id="VAR_025694"
FT VARIANT 222
FT /note="P -> T (found in a patient with high hyperopia;
FT uncertain significance; dbSNP:rs767183449)"
FT /evidence="ECO:0000269|PubMed:26583794"
FT /id="VAR_075401"
FT VARIANT 259
FT /note="S -> D (requires 2 nucleotide substitutions)"
FT /evidence="ECO:0000269|Ref.4"
FT /id="VAR_071160"
FT VARIANT 449
FT /note="G -> S (in dbSNP:rs139725672)"
FT /evidence="ECO:0000269|PubMed:16352475"
FT /id="VAR_025695"
FT VARIANT 514
FT /note="Q -> H (in dbSNP:rs368172459)"
FT /evidence="ECO:0000269|PubMed:16352475"
FT /id="VAR_025696"
FT VARIANT 517
FT /note="R -> W (found in a patient with high hyperopia;
FT uncertain significance; dbSNP:rs730882144)"
FT /evidence="ECO:0000269|PubMed:26583794"
FT /id="VAR_075402"
FT VARIANT 539
FT /note="R -> C (found in a patient with high hyperopia;
FT uncertain significance; dbSNP:rs374823079)"
FT /evidence="ECO:0000269|PubMed:26583794"
FT /id="VAR_075403"
FT CONFLICT 40
FT /note="P -> Q (in Ref. 2; CAH93521)"
FT /evidence="ECO:0000305"
FT CONFLICT 83
FT /note="Missing (in Ref. 2; CAH93521)"
FT /evidence="ECO:0000305"
FT CONFLICT 393
FT /note="A -> S (in Ref. 3; BAB70859)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 579 AA; 62212 MW; 8E5F8D3A1C4BB074 CRC64;
MKDFSDVILC MEATESSKTE FCNPAFEPES GPPCPPPVFP EDASYSVPAP WHGRRPRGLR
PDCRFSWLCV LLLSSLLLLL LGLLVAIILA QLQAAPPSGA SHSPLPAGGL TTTTTTPTIT
TSQAAGTPKG QQESGVSPSP QSTCGGLLSG PRGFFSSPNY PDPYPPNTHC VWHIQVATDH
AIQLKIEALS IESVASCLFD RLELSPEPEG PLLRVCGRVP PPTLNTNASH LLVVFVSDSS
VEGFGFHAWY QAMAPGRGSC AHDEFRCDQL ICLLPDSVCD GFANCADGSD ETNCSAKFSG
CGGNLTGLQG TFSTPSYLQQ YPHQLLCTWH ISVPAGHSIE LQFHNFSLEA QDECKFDYVE
VYETSSSGAF SLLGRFCGAE PPPHLVSSHH ELAVLFRTDH GISSGGFSAT YLAFNATENP
CGPSELSCQA GGCKGVQWMC DMWRDCTDGS DDNCSGPLFP PPELACEPVQ VEMCLGLSYN
TTAFPNIWVG MITQEEVVEV LSGYKSLTSL PCYQHFRRLL CGLLVPRCTP LGSVLPPCRS
VCQEAEHQCQ SGLALLGTPW PFNCNRLPEA ADLEACAQP
//
