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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10721: Variant p.Glu839Lys

Mast/stem cell growth factor receptor Kit
Gene: KIT
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Variant information Variant position: help 839 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Glutamate (E) to Lysine (K) at position 839 (E839K, p.Glu839Lys). 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 medium size and acidic (E) to large size and basic (K) 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 MASTC; sporadic case; somatic mutation; dominant negative mutation; loss of autophosphorylation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 839 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 NDSNYVVKGNARLPVKWMAP E SIFNCVYTFESDVWSYGIFL 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                         NDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGIFL

                              NDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGIFL

Mouse                         NDSNYVVKGNARLPVKWMAPESIFSCVYTFESDVWSYGIFL

Pig                           NDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGIFL

Bovine                        NDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGIFL

Goat                          NDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGIFL

Cat                           NDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGIFL

Chicken                       NDSNYVVKGNARLPVKWMAPESIFNCVYTFESDVWSYGILL

Xenopus laevis                NDSNYVVKGNARLPVKWMAPESIFHCVYTFESDVWSYGILL

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
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.
Helix 838 – 843



Literature citations
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.
Longley B.J. Jr.; Metcalfe D.D.; Tharp M.; Wang X.; Tyrrell L.; Lu S.-Z.; Heitjan D.; Ma Y.;
Proc. Natl. Acad. Sci. U.S.A. 96:1609-1614(1999)
Cited for: VARIANTS MASTSYS VAL-816 AND TYR-816; VARIANTS MASTC PHE-816 AND LYS-839; CHARACTERIZATION OF VARIANTS MASTSYS VAL-816 AND TYR-816; CHARACTERIZATION OF VARIANTS MASTC PHE-816 AND LYS-839; INVOLVEMENT IN MASTSYS AND MASTC;
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.