KEGG   Homo sapiens (human): 79147Help
Entry
79147             CDS       T01001                                 

Gene name
FKRP, LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
Definition
(RefSeq) fukutin related protein
Organism
hsa  Homo sapiens (human)
Disease
H00120  
Dystroglycanopathy
H00590  
Congenital muscular dystrophies (CMD/MDC)
H00593  
Limb-girdle muscular dystrophy (LGMD)
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-ProteinID: 
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
19q13.32
AA seq 495 aa AA seqDB search
MRLTRCQAALAAAITLNLLVLFYVSWLQHQPRNSRARGPRRASAAGPRVTVLVREFEAFD
NAVPELVDSFLQQDPAQPVVVAADTLPYPPLALPRIPNVRLALLQPALDRPAAASRPETY
VATEFVALVPDGARAEAPGLLERMVEALRAGSARLVAAPVATANPARCLALNVSLREWTA
RYGAAPAAPRCDALDGDAVVLLRARDLFNLSAPLARPVGTSLFLQTALRGWAVQLLDLTF
AAARQPPLATAHARWKAEREGRARRAALLRALGIRLVSWEGGRLEWFGCNKETTRCFGTV
VGDTPAYLYEERWTPPCCLRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPWD
YDVDLGIYLEDVGNCEQLRGAEAGSVVDERGFVWEKAVEGDFFRVQYSESNHLHVDLWPF
YPRNGVMTKDTWLDHRQDVEFPEHFLQPLVPLPFAGFVAQAPNNYRRFLELKFGPGVIEN
PQYPNPALLSLTGSG
NT seq 1488 nt NT seq  +upstreamnt  +downstreamnt
atgcggctcacccgctgccaggctgccctggcggccgccatcaccctcaaccttctggtc
ctcttctatgtctcgtggctgcagcaccagcctaggaattcccgggcccgggggccccgt
cgtgcctctgctgccggcccccgtgtcaccgtcctggtgcgggagttcgaggcatttgac
aacgcggtgcccgagctggtagactccttcctgcagcaagacccagcccagcccgtggtg
gtggcagccgacacgctcccctacccgcccctggccctgccccgcatccccaacgtgcgt
ctggcgctgctccagcccgccctggaccggccagccgcagcctcgcgcccggagacctac
gtggccaccgagtttgtggccctagtacctgatggggcgcgggctgaggcacctggcctg
ctggagcgcatggtggaggcgctccgcgcaggaagcgcacgtctggtggccgccccggtt
gccacggccaaccctgccaggtgcctggccctgaacgtcagcctgcgagagtggaccgcc
cgctatggcgcagcccccgccgcgccccgctgcgacgccctggacggagatgctgtggtg
ctcctgcgcgcccgcgacctcttcaacctctcggcgcccctggcccggccggtgggcacc
agcctctttctgcagaccgcccttcgcggctgggcggtgcagctgctggacttgaccttc
gccgcggcgcgccagcccccgctggccacggcccacgcgcgctggaaggctgagcgcgag
ggacgcgctcggcgggcggcgctgctccgcgcgctgggcatccgcctagtgagctgggaa
ggcgggcggctggagtggttcggctgcaacaaggagaccacgcgctgcttcggaaccgtg
gtgggcgacacgcccgcctacctctacgaggagcgctggacgcccccctgctgcctgcgc
gcgctgcgcgagaccgcccgctatgtggtgggcgtgctggaggctgcgggcgtgcgctac
tggctcgagggcggctcactgctgggggccgcccgccacggggacatcatcccatgggac
tacgacgtggacctgggcatctacttggaggacgtgggcaactgcgagcagctgcggggg
gcagaggccggctcggtggtggatgagcgcggcttcgtatgggagaaggcggtcgagggc
gactttttccgcgtgcagtacagcgaaagcaaccacttgcacgtggacctgtggcccttc
tacccccgcaatggcgtcatgaccaaggacacgtggctggaccaccggcaggatgtggag
tttcccgagcacttcctgcagccgctggtgcccctgccctttgccggcttcgtggcgcag
gcgcctaacaactaccgccgcttcctggagctcaagttcgggcccggggtcatcgagaac
ccccagtaccccaacccggcactgctgagtctgacgggaagcggctga

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