Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UM73: Variant p.Asp1529Glu

ALK tyrosine kinase receptor
Gene: ALK
Feedback?
Variant information Variant position: help 1529 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Aspartate (D) to Glutamate (E) at position 1529 (D1529E, p.Asp1529Glu). 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: help Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 2 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 1529 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1620 The length of the canonical sequence.
Location on the sequence: help SWFTEKPTKKNNPIAKKEPH D RGNLGLEGSCTVPPNVATGR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         SWFTEKPTKKNN------------PIAKKEPHDRGNLGLEG------------------------------SCTVPPNVATGR

Mouse                         SWFTEKPAKKTH------------PPPGAEPQARAG-AAEG

Zebrafish                     SWFLQQQQKRQQVQAQRQTSGPRIPGEGQEQVGRTVTVAEA

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 19 – 1620 ALK tyrosine kinase receptor
Topological domain 1060 – 1620 Cytoplasmic
Region 1514 – 1540 Disordered
Compositional bias 1518 – 1532 Basic and acidic residues



Literature citations
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; 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; 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] LEU-90; LEU-163; GLN-296; ALA-476; PHE-560; ILE-680; THR-704; SER-877; MET-1012; ASP-1121; THR-1274; LEU-1328; ASN-1416; LYS-1419; ARG-1429; ARG-1491 AND GLU-1529;
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.