Variant position: 250 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 ERRKWIQCFNDVTAIIFVVA SSSYNMVIREDNQTNRLQEAL
Mouse ERRKWIQCFNDVTAIIFVVA SSSYNMVIREDNQTNRLQEAL
Rat ERRKWIQCFNDVTAIIFVVA SSSYNMVIREDNQTNRLQEAL
Bovine ERRKWIQCFNDVTAIIFVVA SSSYNMVIREDNQTNRLQEAL
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
258 – 258 R -> A. Increases GDP release and impairs receptor-mediated activation; markedly elevated intrinsic GTPase rate which will lead to more rapid inactivation.
250 – 254
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
Warner D.R.; Gejman P.V.; Collins R.M.; Weinstein L.S.;
Mol. Endocrinol. 11:1718-1727(1997)
Cited for: VARIANT AHO ARG-250;
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