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An A to C change at position 305 resulting in an aspartate to alanine substitution at amino acid 102 (p.D102A) was introduced into exon 4. In addition, a loxP-flanked neomycin selection cassette was inserted between exon 3 and 4, which was removed via cre-mediated recombination. The p.D102A variant was detected in a proband with dilated cardiomyopathy. (J:298603)
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
