Variant position: 246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 394 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 GQRDERRKWIQCFNDVTAII FVVASSSYNMVIREDNQTNRL
Mouse GQRDERRKWIQCFNDVTAII FVVASSSYNMVIREDNQTNRL
Rat GQRDERRKWIQCFNDVTAII FVVASSSYNMVIREDNQTNRL
Bovine GQRDERRKWIQCFNDVTAII FVVASSSYNMVIREDNQTNRL
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
2 – 394 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
39 – 394 G-alpha
227 – 227 Q -> L. Increases binding to GAS2L2; when associated with N-295.
258 – 258 R -> A. Increases GDP release and impairs receptor-mediated activation; markedly elevated intrinsic GTPase rate which will lead to more rapid inactivation.
243 – 249
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.
Rickard S.J.; Wilson L.C.;
Am. J. Hum. Genet. 72:961-974(2003)
Cited for: VARIANTS AHO ILE-242; SER-246 AND VAL-259;
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.