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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10721: Variant p.Ala829Pro

Mast/stem cell growth factor receptor Kit
Gene: KIT
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Variant information Variant position: help 829 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Alanine (A) to Proline (P) at position 829 (A829P, p.Ala829Pro). 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 Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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: help In a germ cell tumor of the testis; somatic mutation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 829 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 976 The length of the canonical sequence.
Location on the sequence: help CDFGLARDIKNDSNYVVKGN A RLPVKWMAPESIFNCVYTFE 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                         CDFGLARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFE

                              CDFGLARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFE

Mouse                         CDFGLARDIRNDSNYVVKGNARLPVKWMAPESIFSCVYTFE

Pig                           CDFGLARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFE

Bovine                        CDFGLARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFE

Goat                          CDFGLARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFE

Cat                           CDFGLARDIKNDSNYVVKGNARLPVKWMAPESIFNCVYTFE

Chicken                       CDFGLARDIRNDSNYVVKGNARLPVKWMAPESIFNCVYTFE

Xenopus laevis                CDFGLARDIRNDSNYVVKGNARLPVKWMAPESIFHCVYTFE

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 26 – 976 Mast/stem cell growth factor receptor Kit
Topological domain 546 – 976 Cytoplasmic
Domain 589 – 937 Protein kinase
Binding site 810 – 810
Modified residue 821 – 821 Phosphoserine
Modified residue 823 – 823 Phosphotyrosine; by autocatalysis
Mutagenesis 823 – 823 Y -> F. No decrease in activity. Leads to autophosphorylation at Tyr-900.
Beta strand 827 – 831



Literature citations
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults.
Bignell G.; Smith R.; Hunter C.; Stephens P.; Davies H.; Greenman C.; Teague J.; Butler A.; Edkins S.; Stevens C.; O'meara S.; Parker A.; Avis T.; Barthorpe S.; Brackenbury L.; Buck G.; Clements J.; Cole J.; Dicks E.; Edwards K.; Forbes S.; Gorton M.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jones D.; Kosmidou V.; Laman R.; Lugg R.; Menzies A.; Perry J.; Petty R.; Raine K.; Shepherd R.; Small A.; Solomon H.; Stephens Y.; Tofts C.; Varian J.; Webb A.; West S.; Widaa S.; Yates A.; Gillis A.J.M.; Stoop H.J.; van Gurp R.J.H.L.M.; Oosterhuis J.W.; Looijenga L.H.J.; Futreal P.A.; Wooster R.; Stratton M.R.;
Genes Chromosomes Cancer 45:42-46(2006)
Cited for: VARIANTS TYR-816; LYS-822 AND PRO-829; 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-532; LEU-541; SER-691; ASN-715; ASN-737; TRP-804; TYR-816; LYS-822 AND PRO-829;
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.