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An A-to-G transition point mutation at position 4066 of the coding sequence alters amino acid 1356 from methionine to valine in the encoded protein. This residue is predicted to lie within the eighth transmembrane domain and is highly conserved among copper transporting ATPases. (J:35781, J:114243)
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
