Variant position: 388 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 DTENIRRVFNDCRDIIQRMH LRQYELL
Mouse DTENIRRVFNDCRDIIQRMH LRQYELL
Rat DTENIRRVFNDCRDIIQRMH LRQYELL
Bovine DTENIRRVFNDCRDIIQRMH LRQYELL
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
369 – 393
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsalpha-receptor interaction.
Thiele S.; de Sanctis L.; Werner R.; Grotzinger J.; Aydin C.; Juppner H.; Bastepe M.; Hiort O.;
Hum. Mutat. 32:653-660(2011)
Cited for: VARIANTS PHP1C ARG-388 AND LYS-392; CHARACTERIZATION OF VARIANTS PHP1C ARG-388 AND LYS-392; FUNCTION;
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.