|Amino Acid Change||V559A|
|DNA Change (Coding Nucleotide)||1676T>C|
|Transcript ID (GRCh37/hg19)||ENST00000288135|
|Genomic Coordinates (GRCh37/hg19)||4:55593610-55593610|
|Tumor Type||Primary Site|
KIT mutations are seen in up to 17% of cutaneous melanomas. The V559A mutation in exon 11 occurs within the juxtamembrane domain. In vitro studies have shown that mutant KIT proteins have increased kinase activity. KIT activating mutations in exons 11 and 13 are typically sensitive to treatment with Imatinib. There are multiple clinical trials available for patients with melanomas harboring KIT alterations.