KEGG   Homo sapiens (human): 9499Help
Entry
9499              CDS       T01001                                 

Gene name
MYOT, LGMD1, LGMD1A, MFM3, TTID, TTOD
Definition
(RefSeq) myotilin
  KO
K19875  
myotilin
Organism
hsa  Homo sapiens (human)
Disease
H00593  
Limb-girdle muscular dystrophy (LGMD)
H00594  
Distal muscular dystrophies
H00595  
Myofibrillar myopathies (MFM)
H01291  
Spheroid body myopathy (SBM)
Brite
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     9499 (MYOT)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
5q31
AA seq 498 aa AA seqDB search
MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSS
HITMSSSAFPASPQQHAGSNPGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNY
QQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLT
YEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQ
DAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIV
SEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKV
LEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGW
YTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPE
GEFQRLAAQSGLYESEEL
NT seq 1497 nt NT seq  +upstreamnt  +downstreamnt
atgtttaactacgaacgtccaaaacacttcatccagtcccaaaacccatgtggctccaga
ttgcagcctcctggaccagaaacctccagcttctctagccagaccaaacagtcttccatt
atcatccagccccgccagtgtacagagcaaagattttctgcctcctcaacactgagctct
cacatcaccatgtcctcctctgctttccctgcttctccccagcagcatgctggctccaac
ccaggccaaagggttacaaccacctataaccagtccccagccagcttcctcagctccata
ttaccatcacagcctgattacaatagcagtaaaatcccttccgctatggattccaactat
caacagtcctcagctggccaacctataaatgcaaagccatcccaaactgcaaatgctaag
cccataccaagaactcctgatcatgaaatacaaggatcaaaagaagctttgattcaagat
ttggaaagaaagctgaaatgcaaggacacccttcttcataatggaaatcaacgtctaaca
tatgaagagaagatggctcgcagattgctaggaccacagaatgcagctgctgtgtttcaa
gctcaggatgacagtggtgcacaagactcgcagcaacacaactcagaacatgcgcgactg
caagttcctacatcacaagtaagaagtagatcaacctcaaggggagatgtgaatgatcag
gatgcaatccaggagaaattttacccaccacgtttcattcaagtgccagagaacatgtcg
attgatgaaggaagattctgcagaatggacttcaaagtgagtggactgccagctcctgat
gtgtcatggtatctaaatggaagaacagttcaatcagatgatttgcacaaaatgatagtg
tctgagaagggtcttcattcactcatctttgaagtagtcagagcttcagatgcaggggct
tatgcatgtgttgccaagaatagagcaggagaagccaccttcactgtgcagctggatgtc
cttgcaaaagaacataaaagagcaccaatgtttatctacaaaccacagagcaaaaaagtt
ttagagggagattcagtgaaactagaatgccagatctcggctatacctccaccaaagctt
ttctggaaaagaaataatgaaatggtacaattcaacactgaccgaataagcttatatcaa
gataacactggaagagttactttactgataaaagatgtaaacaagaaagatgctgggtgg
tatactgtgtcagcagttaatgaagctggagtgactacatgtaacacaagattagacgtt
acggcacgtccaaaccaaactcttccagctcctaagcagttacgggttcgaccaacattc
agcaaatatttagcacttaatgggaaaggtttgaatgtaaaacaagcttttaacccagaa
ggagaatttcagcgtttggcagctcaatctggactctatgaaagtgaagaactttaa

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