UniProtKB/Swiss-Prot O14965: Variant p.Ile57Val

Aurora kinase A
Gene: AURKA
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Variant information Variant position:

57 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 Isoleucine (I) to Valine (V) at position 57 (I57V, p.Ile57Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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:

Increased kinase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1047972 [ dbSNP | Ensembl ]

Sequence information Variant position:

57 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

403 The length of the canonical sequence.
Location on the sequence:

LPVNSGQAQRVLCPSNSSQR I PLQAQKLVSSHKPVQNQKQK 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                         LPVNSGQAQRVLCPSNSSQRIPLQAQKLVSSHKPVQNQKQK

Mouse                         GSASSGQAQRVLCPSN-SQRVPSQAQKLGAGQKPA----PK

Rat                           GSASSGQAQRVLCPSN-SQRVPPQAQKPVAGQKPV----LK

Pig                           PSANSGQAQRVLCPSNSSQRLPSHTQKLVSSHKPVQNLKQK

Bovine                        VSVNSGQAQRVLCPTNSSQRVPSQAQKLVSIQKPVQTLKQK

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 – 403	Aurora kinase A
Region	1 – 125	Disordered
Compositional bias	28 – 105	Polar residues
Modified residue	41 – 41	Phosphoserine
Modified residue	51 – 51	Phosphoserine

Literature citations
Cell cycle-dependent expression and spindle pole localization of a novel human protein kinase, Aik, related to Aurora of Drosophila and yeast Ipl1.
Kimura M.; Kotani S.; Hattori T.; Sumi N.; Yoshioka T.; Todokoro K.; Okano Y.;
J. Biol. Chem. 272:13766-13771(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; INDUCTION; SUBCELLULAR LOCATION; VARIANT VAL-57; cDNA cloning, expression, subcellular localization, and chromosomal assignment of mammalian aurora homologues, aurora-related kinase (ARK) 1 and 2.
Shindo M.; Nakano H.; Kuroyanagi H.; Shirasawa T.; Mihara M.; Gilbert D.J.; Jenkins N.A.; Copeland N.G.; Yagita H.; Okumura K.;
Biochem. Biophys. Res. Commun. 244:285-292(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-57; Tumour amplified kinase STK15/BTAK induces centrosome amplification, aneuploidy and transformation.
Zhou H.; Kuang J.; Zhong L.; Kuo W.-L.; Gray J.W.; Sahin A.; Brinkley B.R.; Sen S.;
Nat. Genet. 20:189-193(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ILE-31 AND VAL-57; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT VAL-57; Two functional coding single nucleotide polymorphisms in STK15 (Aurora-A) coordinately increase esophageal cancer risk.
Kimura M.T.; Mori T.; Conroy J.; Nowak N.J.; Satomi S.; Tamai K.; Nagase H.;
Cancer Res. 65:3548-3554(2005)
Cited for: VARIANTS ILE-31 AND VAL-57; CHARACTERIZATION OF VARIANT VAL-57; Linkage disequilibrium and haplotype analysis of two single nucleotide polymorphisms in STK15 in Chinese.
Chen L.; Ao X.; Ren Q.; Wang Z.N.; Lu C.; Xu Y.; Jiang L.; Luo Y.; Xu H.M.; Zhang X.;
Yi Chuan Xue Bao 32:331-336(2005)
Cited for: VARIANTS ILE-31 AND VAL-57; Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ILE-31; LEU-50; VAL-57; ARG-155; MET-174 AND VAL-373;

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.