UniProtKB/Swiss-Prot O14965: Variant p.Phe31Ile

Aurora kinase A
Gene: AURKA
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Variant information Variant position:

31 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 Phenylalanine (F) to Isoleucine (I) at position 31 (F31I, p.Phe31Ile). 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 large size and aromatic (F) to medium size and hydrophobic (I) 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 rs2273535 [ dbSNP | Ensembl ]

Sequence information Variant position:

31 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:

GPVKATAPVGGPKRVLVTQQ F PCQNPLPVNSGQAQRVLCPS 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                         GPVKATAPVGGPKRVLVTQQFPCQNPLPVNSGQAQRVLCPS

Mouse                         RPVKTTVPF-GPKRVLVTEQIPSQNLGSASSGQAQRVLCPS

Rat                           RPVKSTVPF-GPKRVLVTEQIPSQHPGSASSGQAQRVLCPS

Pig                           GLKTTVPPGDGPKRVPVTQHFPAQHLPSANSGQAQRVLCPS

Bovine                        GPKTAVPLSDGPKRVPVAQQFPSQNPVSVNSGQAQRVLCPT

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
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; 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; Aurora kinases A and B and familial breast cancer risk.
Tchatchou S.; Wirtenberger M.; Hemminki K.; Sutter C.; Meindl A.; Wappenschmidt B.; Kiechle M.; Bugert P.; Schmutzler R.K.; Bartram C.R.; Burwinkel B.;
Cancer Lett. 247:266-272(2007)
Cited for: VARIANT ILE-31; 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.