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UniProtKB/Swiss-Prot P63092: Variant p.Thr242Ile

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

Variant position:  242
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 Threonine (T) to Isoleucine (I) at position 242 (T242I, p.Thr242Ile).
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 medium size and polar (T) to medium size and hydrophobic (I)
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 AHO.
Any additional useful information about the variant.



Sequence information

Variant position:  242
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:   FDVGGQRDERRKWIQCFNDV  T AIIFVVASSSYNMVIREDNQ
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                         FDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQ

Mouse                         FDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQ

Rat                           FDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQ

Bovine                        FDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQ

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
Mutagenesis 227 – 227 Q -> L. Increases binding to GAS2L2; when associated with N-295.
Mutagenesis 258 – 258 R -> A. Increases GDP release and impairs receptor-mediated activation; markedly elevated intrinsic GTPase rate which will lead to more rapid inactivation.


Literature citations

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;

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.