Sequence information
Variant position: 436 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1037 The length of the canonical sequence.
Location on the sequence:
APADPDSGAFAADPDSGAAP
A APADPDSGAAPDAPADPDSG
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 APADPDSGAFAADPDSGAAP------------A APADPDSGAAPDAPADPDSG
Mouse EPASEAVPATTAESASGAAPVTQVEPAAAAVSA TLAEPAAR
Rat EPAAEAVPDTEAESASGAVPDTQEEPAAAAASA TPAEPAAR
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
Chain
1 – 1037
Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas
Region
283 – 588
Disordered
Literature citations
Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding.
Freson K.; Hoylaerts M.F.; Jaeken J.; Eyssen M.; Arnout J.; Vermylen J.; Van Geet C.;
Thromb. Haemost. 86:733-738(2001)
Cited for: VARIANTS GNASHYP ASP-436; PRO-ALA-ASP-PRO-ASP-SER-GLY-ALA-ALA-PRO-ASP-ALA-437 INS AND ARG-459;
Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.
Freson K.; Jaeken J.; Van Helvoirt M.; de Zegher F.; Wittevrongel C.; Thys C.; Hoylaerts M.F.; Vermylen J.; Van Geet C.;
Hum. Mol. Genet. 12:1121-1130(2003)
Cited for: VARIANTS GNASHYP ASP-436; PRO-ALA-ASP-PRO-ASP-SER-GLY-ALA-ALA-PRO-ASP-ALA-437 INS AND ARG-459;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.