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A G-to-A transition mutation results in a conserved cysteine to a tyrosine amino acid change at position 82 (p.C82Y) in the LIM1 domain of the encoded protein. The conserved cysteine is thought to be required for coordination of zinc that is essential for the function of the LIM domain, and thus the transcriptional activity of the protein. (J:60593)
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
