Variant position: 287 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 360 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SIGPNVSLGPGVVVEDGVCI RRCTVLRDARIRSHSWLESCI
Mouse SIGPNVSLGPGVVVEDGVCI RRCTVLRDAHIRSHSWLESCI
Pig SIGPNVSLGPGVVVEDGVCI RRCTVLRDARIRSHSWLESCI
Bovine SIGPNVSLGPGVVVEDGVCI RRCTVLRDAHIRSHSWLESCI
Xenopus tropicalis SIGPNVTIGPGVTVEDGVRI KRCTIMKGSRLHSHSWLESSI
Zebrafish TIGPNVTIGAGVVLEDGVRV KRCTILKGAHIRSHSWLESCI
Caenorhabditis elegans VIGPDVVIGPRVKIEGGVRI LHSTILSDSSIGNYSWVSGSI
Drosophila RIGPNVTIGPDVVIEDGVCI KRSTILKGAIVRSHSWLDSCI
Slime mold LIGPNVTIGPNCVIQEGTRL VNTTVLEGTTIGKNSWIKSTI
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 360 Mannose-1-phosphate guanyltransferase beta
GMPPB-associated dystroglycanopathy: Emerging common variants with phenotype correlation.
Jensen B.S.; Willer T.; Saade D.N.; Cox M.O.; Mozaffar T.; Scavina M.; Stefans V.A.; Winder T.L.; Campbell K.P.; Moore S.A.; Mathews K.D.;
Hum. Mutat. 36:1159-1163(2015)
Cited for: VARIANTS MDDGC14 HIS-27; SER-32; CYS-132; THR-219; SER-241; MET-254; GLN-287; TRP-287; ALA-318 AND ILE-330;
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Balcin H.; Palmio J.; Penttilae S.; Nennesmo I.; Lindfors M.; Solders G.; Udd B.;
Neuromuscul. Disord. 27:627-630(2017)
Cited for: VARIANTS MDDGC14 HIS-27 AND TRP-287;
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