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

Gene name
FKRP, LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
Definition
fukutin related protein
Organism
hsa  Homo sapiens (human)
Disease
H00120  
Dystroglycanopathy
H00590  
Congenital muscular dystrophies (CMD/MDC)
H00593  
Limb-girdle muscular dystrophy (LGMD)
Class
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
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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