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UniProtKB/Swiss-Prot P42771: Variant p.Gly150Val

Cyclin-dependent kinase inhibitor 2A
Gene: CDKN2A
Variant information

Variant position:  150
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Valine (V) at position 150 (G150V, p.Gly150Val).
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 glycine (G) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 non-small cell lung carcinoma.
Any additional useful information about the variant.

Sequence information

Variant position:  150
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  156
The length of the canonical sequence.

Location on the sequence:   LRAAAGGTRGSNHARIDAAE  G PSDIPD
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                         LR-------------AAAGGTRG--------SNHARIDAAEGPSDIPD

Mouse                         LRSAGCSLCSAGWSLCTAGNVAQ-TDG

Rat                           LR----------YLLSSAGNVSRVTDR

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.

Chain 1 – 156 Cyclin-dependent kinase inhibitor 2A
Modified residue 140 – 140 Phosphoserine
Modified residue 152 – 152 Phosphoserine
Alternative sequence 117 – 156 Missing. In isoform 3.
Beta strand 150 – 153

Literature citations

Somatic mutations of the MTS (multiple tumor suppressor) 1/CDK4l (cyclin-dependent kinase-4 inhibitor) gene in human primary non-small cell lung carcinomas.
Hayashi N.; Sugimoto Y.; Tsuchiya E.; Ogawa M.; Nakamura Y.;
Biochem. Biophys. Res. Commun. 202:1426-1430(1994)
Cited for: VARIANTS NON-SMALL CELL LUNG CARCINOMA TYR-66; HIS-84; ALA-93; ALA-95; GLN-99; LEU-114; ALA-120; LYS-120; PRO-132; VAL-134; TYR-142 AND VAL-150;

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.