Gene Variant Detail

Gene KIT
Variant V559A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT V559A lies within the juxtamembrane domain of the Kit protein (PMID: 15837988). V559A results in constitutive phosphorylation of Kit and increased Mapk and Akt activation in patient samples and cultured cells (PMID: 15837988, PMID: 19047099).
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_000222
gDNA chr4:g.54727444T>C
cDNA c.1676T>C
Protein p.V559A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727444T>C c.1676T>C p.V559A RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727444T>C c.1676T>C p.V559A RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
KIT V559A gain of function KIT Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V559A melanoma sensitive Nilotinib Phase II Actionable In a Phase II trial, Tasigna (nilotinib) resulted in an overall response rate of 26.2% (11/41) including a melanoma patient harboring KIT V559A demonstrating a partial response and progression free survival of 19.4 months and overall survival of 32.9 months (PMID: 28327988). 28327988
KIT V559A gastrointestinal stromal tumor predicted - resistant Imatinib Clinical Study Actionable In a clinical study, KIT V559A was identified as a secondary mutation in a patient with gastrointestinal stromal tumor who developed resistance to Gleevec (imatinib mesylate) (PMID: 18488160). 18488160
KIT V559A melanoma predicted - sensitive Imatinib Clinical Study Actionable In a clinical case study, Gleevec (imatinib) treatment in a patient with metastatic melanoma resulted in regression of the lung metastasis, which harbored KIT V559A, however, neither the primary tumor or lymph node metastasis responded, which had wild-type KIT (PMID: 19812602). 19812602