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An A to G transition in the coding region causes the replacement of aspartic acid by glycine at position 833 (D833G). The mutation causes an alteration in the cytoplasmic tyrosine kinase domain structure and falls within a DFG motif known to be important for ATP coordination. (J:88776)
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
