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UniProtKB/Swiss-Prot P63092: Variant p.Ala366Ser

Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Gene: GNAS
Variant information

Variant position:  366
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Alanine (A) to Serine (S) at position 366 (A366S, p.Ala366Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In PHP1A; the patient also shows testotoxicosis; constitutively activates adenylyl cyclase in vitro; rapidly degraded at 37 degrees resulting in loss of Gs activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  366
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:   LRISTASGDGRHYCYPHFTC  A VDTENIRRVFNDCRDIIQRM
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                         LRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRM

Mouse                         LRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRM

Rat                           LRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRM

Bovine                        LRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRM

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.

TypePositionsDescription
Chain 2 – 394 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Domain 39 – 394 G-alpha
Region 364 – 369 G5 motif
Binding site 366 – 366 GTP; via amide nitrogen
Modified residue 352 – 352 Phosphoserine
Beta strand 365 – 367


Literature citations

Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function.
Iiri T.; Herzmark P.; Nakamoto J.M.; van Dop C.; Bourne H.R.;
Nature 371:164-168(1994)
Cited for: CHARACTERIZATION OF VARIANT PHP1A SER-366;

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.