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The causative mutation is a T-to-C missense mutation, a transition at g.117931223. The T-to-C transition resulted in a non-conservative amino acid change, p.Ser3630Pro, located in a highly conserved ATP-binding dynein motor region D5 of the encoded protein. (J:237132)
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
