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

Gene name
MYOT, LGMD1, LGMD1A, MFM3, TTID, TTOD
Definition
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)
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
5q31
AA seq 314 aa AA seqDB search
MARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQDAIQ
EKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIVSEKG
LHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKVLEGD
SVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGWYTVS
AVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPEGEFQ
RLAAQSGLYESEEL
NT seq 945 nt NT seq  +upstreamnt  +downstreamnt
atggctcgcagattgctaggaccacagaatgcagctgctgtgtttcaagctcaggatgac
agtggtgcacaagactcgcagcaacacaactcagaacatgcgcgactgcaagttcctaca
tcacaagtaagaagtagatcaacctcaaggggagatgtgaatgatcaggatgcaatccag
gagaaattttacccaccacgtttcattcaagtgccagagaacatgtcgattgatgaagga
agattctgcagaatggacttcaaagtgagtggactgccagctcctgatgtgtcatggtat
ctaaatggaagaacagttcaatcagatgatttgcacaaaatgatagtgtctgagaagggt
cttcattcactcatctttgaagtagtcagagcttcagatgcaggggcttatgcatgtgtt
gccaagaatagagcaggagaagccaccttcactgtgcagctggatgtccttgcaaaagaa
cataaaagagcaccaatgtttatctacaaaccacagagcaaaaaagttttagagggagat
tcagtgaaactagaatgccagatctcggctatacctccaccaaagcttttctggaaaaga
aataatgaaatggtacaattcaacactgaccgaataagcttatatcaagataacactgga
agagttactttactgataaaagatgtaaacaagaaagatgctgggtggtatactgtgtca
gcagttaatgaagctggagtgactacatgtaacacaagattagacgttacggcacgtcca
aaccaaactcttccagctcctaagcagttacgggttcgaccaacattcagcaaatattta
gcacttaatgggaaaggtttgaatgtaaaacaagcttttaacccagaaggagaatttcag
cgtttggcagctcaatctggactctatgaaagtgaagaactttaa

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