Variant position: 583 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 INGNNYVYIDPTQLPYDHKW EFPRNRLSFGKTLGAGAFGKV
Mouse INGNNYVYIDPTQLPYDHKW EFPRNRLSFGKTLGAGAFGKV
Pig INGNNYVYIDPTQLPYDHKW EFPRNRLSFGKTLGAGAFGKV
Bovine INGNNYVYIDPTQLPYDHKW EFPRNRLSFGKTLGAGAFGKV
Goat INGNNYVYIDPTQLPYDHKW EFPRNRLSFGKTLGAGAFGKV
Cat INGNNYVYIDPTQLPYDHKW EFPRNRLSFGKTLGAGAFGKV
Chicken INGNNYVYIDPTQLPYDHKW EFPRNRLSFGKTLGAGAFGKV
Xenopus laevis INGNNYVYIDPTQLPYDNKW EFPRDRLCFGKILGAGAFGKV
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
568 – 568 Magnesium
568 – 568 Phosphotyrosine; by autocatalysis
570 – 570 Phosphotyrosine; by autocatalysis
414 – 976 Missing. In isoform 3.
571 – 571 I -> A. Reduction in SH2B2/APS binding. Abolishes SH2B2/APS binding; when associated with A-939.
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.
J. Clin. Invest. 89:1713-1717(1992)
Cited for: VARIANT PBT LYS-583;
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