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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10721: Variant p.Gly812Val

Mast/stem cell growth factor receptor Kit
Gene: KIT
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Variant information Variant position: help 812 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 Glycine (G) to Valine (V) at position 812 (G812V, p.Gly812Val). 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 glycine (G) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In PBT. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 812 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 DLAARNILLTHGRITKICDF G LARDIKNDSNYVVKGNARLP 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                         DLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLP

                              DLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLP

Mouse                         DLAARNILLTHGRITKICDFGLARDIRNDSNYVVKGNARLP

Pig                           DLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLP

Bovine                        DLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLP

Goat                          DLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLP

Cat                           DLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLP

Chicken                       DLAARNILLTHGRITKICDFGLARDIRNDSNYVVKGNARLP

Xenopus laevis                DLAARNILLTHGRITKICDFGLARDIRNDSNYVVKGNARLP
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
Active site 792 – 792 Proton acceptor
Binding site 796 – 796
Binding site 797 – 797
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.
Helix 812 – 814



Literature citations
Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.
Spritz R.A.; Holmes S.A.; Itin P.; Kuester W.;
J. Invest. Dermatol. 101:22-25(1993)
Cited for: VARIANTS PBT GLY-791 AND VAL-812;
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.