Variant position: 812 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 DLAARNILLTHGRITKICDF GLARDIKNDSNYVVKGNARLP
Mouse DLAARNILLTHGRITKICDF GLARDIRNDSNYVVKGNARLP
Pig DLAARNILLTHGRITKICDF GLARDIKNDSNYVVKGNARLP
Bovine DLAARNILLTHGRITKICDF GLARDIKNDSNYVVKGNARLP
Goat DLAARNILLTHGRITKICDF GLARDIKNDSNYVVKGNARLP
Cat DLAARNILLTHGRITKICDF GLARDIKNDSNYVVKGNARLP
Dog DLAARNILLTHGRITKICDF GLARDIKNDSNYVVKGNARLP
Chicken DLAARNILLTHGRITKICDF GLARDIRNDSNYVVKGNARLP
Xenopus laevis DLAARNILLTHGRITKICDF GLARDIRNDSNYVVKGNARLP
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
792 – 792 Proton acceptor
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.
812 – 814
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;
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.