Variant position: 816 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 976 The length of the canonical sequence.
Location on the sequence:
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 RNILLTHGRITKICDFGLAR DIKNDSNYVVKGNARLPVKWM
Mouse RNILLTHGRITKICDFGLAR DIRNDSNYVVKGNARLPVKWM
Pig RNILLTHGRITKICDFGLAR DIKNDSNYVVKGNARLPVKWM
Bovine RNILLTHGRITKICDFGLAR DIKNDSNYVVKGNARLPVKWM
Goat RNILLTHGRITKICDFGLAR DIKNDSNYVVKGNARLPVKWM
Cat RNILLTHGRITKICDFGLAR DIKNDSNYVVKGNARLPVKWM
Chicken RNILLTHGRITKICDFGLAR DIRNDSNYVVKGNARLPVKWM
Xenopus laevis RNILLTHGRITKICDFGLAR DIRNDSNYVVKGNARLPVKWM
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
26 – 976 Mast/stem cell growth factor receptor Kit
546 – 976 Cytoplasmic
589 – 937 Protein kinase
797 – 797 Magnesium
810 – 810 Magnesium
796 – 796 ATP
821 – 821 Phosphoserine
823 – 823 Phosphotyrosine; by autocatalysis
414 – 976 Missing. In isoform 3.
823 – 823 Y -> F. No decrease in activity. Leads to autophosphorylation at Tyr-900.
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;
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.