Variant position: 656 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 ALMSELKVLSYLGNHMNIVN LLGACTIGGPTLVITEYCCYG
Mouse ALMSELKVLSYLGNHMNIVN LLGACTVGGPTLVITEYCCYG
Pig ALMSELKVLSYLGNHMNIVN LLGACTIGGPTLVITEYCCYG
Bovine ALMSELKVLSYLGNHMNIVN LLGACTIGGPTLVITEYCCYG
Goat ALMSELKVLSYLGNHMNIVN LLGACTIGGPTLVITEYCCYG
Cat ALMSELKVLSYLGNHMNIVN LLGACTVGGPTLVITEYCCYG
Chicken ALMSELKVLSYLGNHINIVN LLGACTIGGPTLVITEYCCYG
Xenopus laevis ALMSELKVLSYLGHHKNIVN LLGACTVGGPTLVITEYCCYG
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
414 – 976 Missing. In isoform 3.
656 – 660
Three novel mutations of the proto-oncogene KIT cause human piebaldism.
Syrris P.; Malik N.M.; Murday V.A.; Patton M.A.; Carter N.D.; Hughes H.E.; Metcalfe K.;
Am. J. Med. Genet. 95:79-81(2000)
Cited for: VARIANTS PBT CYS-584; ARG-601 AND PRO-656;
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