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EN
The mutation is an A-to-G transition at coding nucleotide 1088, in the third of 5 exons, that replaces histidine with arginine at amino acid position 363 (p.H363R) of the protein. This highly conserved histidine is one of three copper-binding histidines in the second copper-binding domain (CuB) of the protein and is essential for its enzymatic activity. (J:133116)
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
