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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10721: Variant p.Lys550Ile

Mast/stem cell growth factor receptor Kit
Gene: KIT
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Variant information Variant position: help 550 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Lysine (K) to Isoleucine (I) at position 550 (K550I, p.Lys550Ile). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (K) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In GIST; somatic mutation. Any additional useful information about the variant.


Sequence information Variant position: help 550 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 976 The length of the canonical sequence.
Location on the sequence: help VIVAGMMCIIVMILTYKYLQ K PMYEVQWKVVEEINGNNYVY 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         VIVAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVY

                              VIAAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVY

Mouse                         VVAAGAMGIIVMVLTYKYLQKPMYEVQWKVVEEINGNNYVY

Pig                           VIAAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVY

Bovine                        VIAAGLMCIFVMILTYKYLQKPMYEVQWKVVEEINGNNYVY

Goat                          VIAAGLMCIFVMILTYKYLQKPMYEVQWKVVEEINGNNYVY

Cat                           VIAAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVY

Chicken                       GVAAGLMCIIVMILVYIYLQKPKYEVQWKVVEEINGNNYVY

Xenopus laevis                IAAAGLMCIAVAVLMYKYLQKPKYEIQWKVVEEINGNNYVY

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 26 – 976 Mast/stem cell growth factor receptor Kit
Topological domain 546 – 976 Cytoplasmic
Binding site 568 – 568
Modified residue 547 – 547 Phosphotyrosine; by autocatalysis
Modified residue 553 – 553 Phosphotyrosine; by autocatalysis
Modified residue 568 – 568 Phosphotyrosine; by autocatalysis
Modified residue 570 – 570 Phosphotyrosine; by autocatalysis
Alternative sequence 1 – 744 MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRVGDEIRLLCTDPGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNKHGLSNSIYVFVRDPAKLFLVDRSLYGKEDNDTLVRCPLTDPEVTNYSLKGCQGKPLPKDLRFIPDPKAGIMIKSVKRAYHRLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYLLREGEEFTVTCTIKDVSSSVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSANVTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIYMNRTFTDKWEDYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDVNAAIAFNVYVNTKPEILTYDRLVNGMLQCVAAGFPEPTIDWYFCPGTEQRCSASVLPVDVQTLNSSGPPFGKLVVQSSIDSSAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIHPHTLFTPLLIGFVIVAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAFGKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGACTIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQEDHAEAALYKNLLHSKESSCSDSTNEYMDMKPGVSYVVPTKADKRRSVRI -> MSLPLSFPFLTFMVVIAKKNPLFLT. In isoform 3.
Helix 550 – 552



Literature citations
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.;
Science 279:577-580(1998)
Cited for: VARIANTS GIST ILE-550; 550-LYS--LYS-558 DEL; 551-PRO--VAL-555 DEL; ASP-559 AND 559-VAL-VAL-560 DEL;
Disclaimer: 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.