Variant position: 559 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 IVMILTYKYLQKPMYEVQWK VVEEINGNNYVYIDPTQLPYD
Mouse IVMVLTYKYLQKPMYEVQWK VVEEINGNNYVYIDPTQLPYD
Pig IVMILTYKYLQKPMYEVQWK VVEEINGNNYVYIDPTQLPYD
Bovine FVMILTYKYLQKPMYEVQWK VVEEINGNNYVYIDPTQLPYD
Goat FVMILTYKYLQKPMYEVQWK VVEEINGNNYVYIDPTQLPYD
Cat IVMILTYKYLQKPMYEVQWK VVEEINGNNYVYIDPTQLPYD
Dog IVMILTYKYLQKPMYEVQWK VVEEINGNNYVYIDPTQLPYD
Chicken IVMILVYIYLQKPKYEVQWK VVEEINGNNYVYIDPTQLPYD
Xenopus laevis AVAVLMYKYLQKPKYEIQWK VVEEINGNNYVYIDPTQLPYD
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
547 – 547 Phosphotyrosine; by autocatalysis
553 – 553 Phosphotyrosine; by autocatalysis
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.
558 – 564
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa.
Beghini A.; Tibiletti M.G.; Roversi G.; Chiaravalli A.M.; Serio G.; Capella C.; Larizza L.;
Cited for: VARIANT GIST ALA-559;
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