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An A to T transition mutation at nucleotide 1232 in exon 8 results in a non-conservative substitution of glycine for aspartic acid at position 411. This mutation occurs in a highly conserved residue in the second PKD domain. In silico modeling predicts this mutation will disrupt the structure of the second PKD domain. (J:170490)
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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References Literature
Title
PMID
Journal
Year
IF
