Variant position: 550 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 VIVAGMMCIIVMILTYKYLQ KPMYEVQWKVVEEINGNNYVY
Mouse VVAAGAMGIIVMVLTYKYLQ KPMYEVQWKVVEEINGNNYVY
Pig VIAAGMMCIIVMILTYKYLQ KPMYEVQWKVVEEINGNNYVY
Bovine VIAAGLMCIFVMILTYKYLQ KPMYEVQWKVVEEINGNNYVY
Goat VIAAGLMCIFVMILTYKYLQ KPMYEVQWKVVEEINGNNYVY
Cat VIAAGMMCIIVMILTYKYLQ KPMYEVQWKVVEEINGNNYVY
Dog VIAAGMMCIIVMILTYKYLQ KPMYEVQWKVVEEINGNNYVY
Chicken GVAAGLMCIIVMILVYIYLQ KPKYEVQWKVVEEINGNNYVY
Xenopus laevis IAAAGLMCIAVAVLMYKYLQ KPKYEIQWKVVEEINGNNYVY
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.
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
Hirota S.; Isozaki K.; Moriyama Y.; Hashimoto K.; Nishida T.; Ishiguro S.; Kawano K.; Hanada M.; Kurata A.; Takeda M.; Muhammad Tunio G.; Matsuzawa Y.; Kanakura Y.; Shinomura Y.; Kitamura Y.;
Cited for: VARIANTS GIST ILE-550; 550-LYS--LYS-558 DEL; 551-PRO--VAL-555 DEL; ASP-559 AND 559-VAL-VAL-560 DEL;
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.