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Direct sequence of this allele and comparison with normal c-kit indicated a nonsynonymous coding mutation of a C-to-A point mutation in ATP biding loop consensus sequence of the kinase domain that result in replacement of the alanine with an aspartate residue at amino acid 605 position (p.A605D). (J:151778)
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
