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Nucleotide sequence analysis of mutant complementary DNAs revealed a G-to-A transition (coding nucleotide 2368 in NM_021099) resulting in a aspartic acid to asparagine mutation at codson 790 (p.D790N). Kit receptor tyrosine kinase activity is affected but not c-kit encoded proteins. (J:10187, J:10528)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
