UniProtKB/Swiss-Prot P42771: Variant p.Ala148Thr

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

148 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Threonine (T) at position 148 (A148T, p.Ala148Thr). 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 medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Other resources:

Links to websites of interest for the variant.

Variant rs3731249 [ dbSNP | Ensembl ]

Sequence information Variant position:

148 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:

RYLRAAAGGTRGSNHARIDA A EGPSDIPD 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                         RYLR-------------AAAGGTRG--------SNHARIDAAEGPSDIPD

Mouse                         RYLRSAGCSLCSAGWSLCTAGNVAQ-TDG

Rat                           RYLR----------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.

Type	Positions	Description
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.

Literature citations
Germline p16 mutations in familial melanoma.
Hussussian C.J.; Struewing J.P.; Goldstein A.M.; Higgins P.A.T.; Ally D.S.; Sheahan M.D.; Clark W.H. Jr.; Tucker M.A.; Dracopoli N.C.;
Nat. Genet. 8:15-21(1994)
Cited for: VARIANTS CMM2 PRO-87; TRP-101 AND ASP-126; VARIANTS THR-49; SER-71 AND THR-148; Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds.
Walker G.J.; Hussussian C.J.; Flores J.F.; Glendening J.M.; Haluska F.G.; Dracopoli N.C.; Hayward N.K.; Fountain J.W.;
Hum. Mol. Genet. 4:1845-1852(1995)
Cited for: VARIANTS CMM2 PRO-32; ALA-35; GLU-35; ARG-50 AND ILE-53; VARIANT THR-148; Mutations associated with familial melanoma impair p16INK4 function.
Ranade K.; Hussussian C.J.; Sikorski R.S.; Varmus H.E.; Goldstein A.M.; Tucker M.A.; Serrano M.; Hannon G.J.; Beach D.; Dracopoli N.C.;
Nat. Genet. 10:114-116(1995)
Cited for: CHARACTERIZATION OF VARIANTS THR-49; SER-71; LEU-81; PRO-87; TRP-101; ASP-126 AND THR-148; Novel germline p16 mutation in familial malignant melanoma in southern Sweden.
Borg A.; Johannsson U.; Johannsson O.; Haakansson S.; Westerdahl J.; Maasbaeck A.; Olsson H.; Ingvar C.;
Cancer Res. 56:2497-2500(1996)
Cited for: VARIANT CMM2 ARG-112 INS; VARIANT THR-148; Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population.
Fitzgerald M.G.; Harkin D.P.; Silva-Arrieta S.; Macdonald D.J.; Lucchina L.C.; Unsal H.; O'Neill E.; Koh J.; Finkelstein D.M.; Isselbacher K.J.; Sober A.J.; Haber D.A.;
Proc. Natl. Acad. Sci. U.S.A. 93:8541-8545(1996)
Cited for: VARIANTS CMM2 ILE-53 AND CYS-107; VARIANTS VAL-68; THR-85 AND THR-148; Germline mutations of the CDKN2 gene in UK melanoma families.
Harland M.; Meloni R.; Gruis N.; Pinney E.; Brookes S.; Spurr N.K.; Frischauf A.-M.; Bataille V.; Peters G.; Cuzick J.; Selby P.; Bishop D.T.; Bishop J.N.;
Hum. Mol. Genet. 6:2061-2067(1997)
Cited for: VARIANTS CMM2 PRO-24; ILE-53 AND THR-118; VARIANT THR-148; Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas.
Gretarsdottir S.; Olafsdottir G.H.; Borg A.;
Hum. Mutat. 12:212-212(1998)
Cited for: VARIANTS CMM2 LEU-48; ASP-89 AND MET-117; VARIANT PANCREAS CARCINOMA VAL-57; VARIANT THR-148;

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.