UniProtKB/Swiss-Prot Q9UM73: Variant p.Ile1461Val

ALK tyrosine kinase receptor
Gene: ALK
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Variant information Variant position:

1461 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 1461 (I1461V, p.Ile1461Val). 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
Other resources:

Links to websites of interest for the variant.

Variant rs1670283 [ dbSNP | Ensembl ]

Sequence information Variant position:

1461 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1620 The length of the canonical sequence.
Location on the sequence:

PPPLPTTSSGKAAKKPTAAE I SVRVPRGPAVEGGHVNMAFS 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                         PPPLPTTSSGKAAKKPTAAEISVRVPRGP------AVEGGHVNMAFS

Mouse                         PQPAALTAPGPSVKKPPGAGAGAGAGAGAGPVPRGAADRGH

Zebrafish                     LPPVPPSQPHPHHHLQTPVVTAPVPASKPSSTTSNAQDGGH

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	19 – 1620	ALK tyrosine kinase receptor
Topological domain	1060 – 1620	Cytoplasmic
Region	1408 – 1463	Disordered

Literature citations
ALK, the chromosome 2 gene locus altered by the t(2;5) in non-Hodgkin's lymphoma, encodes a novel neural receptor tyrosine kinase that is highly related to leukocyte tyrosine kinase (LTK).
Morris S.W.; Naeve C.W.; Mathew P.; James P.L.; Kirstein M.N.; Cui X.; Witte D.P.;
Oncogene 14:2175-2188(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; GLYCOSYLATION; VARIANT VAL-1461; Molecular characterization of ALK, a receptor tyrosine kinase expressed specifically in the nervous system.
Iwahara T.; Fujimoto J.; Wen D.; Cupples R.; Bucay N.; Arakawa T.; Mori S.; Ratzkin B.; Yamamoto T.;
Oncogene 14:439-449(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-1461; ARG-1491 AND GLU-1529; Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS VAL-1461; ARG-1491 AND GLU-1529; Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma.
Morris S.W.; Kirstein M.N.; Valentine M.B.; Dittmer K.G.; Shapiro D.N.; Saltman D.L.; Look A.T.;
Science 263:1281-1284(1994)
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA]; CHROMOSOMAL TRANSLOCATION WITH NPM1; VARIANT VAL-1461; Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer.
Soda M.; Choi Y.L.; Enomoto M.; Takada S.; Yamashita Y.; Ishikawa S.; Fujiwara S.; Watanabe H.; Kurashina K.; Hatanaka H.; Bando M.; Ohno S.; Ishikawa Y.; Aburatani H.; Niki T.; Sohara Y.; Sugiyama Y.; Mano H.;
Nature 448:561-566(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1059-1620; VARIANTS VAL-1461; ARG-1491 AND GLU-1529; CHROMOSOMAL TRANSLOCATION WITH EML4;

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.