rs148081616
This variant is located in the ATP7B gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7BFunctionalLeiah M. Luoma et al.(2010)· Human Mutation
Functional analysis of 12 ATP7B missense variants in the ATP loop revealed that p.L1043P, p.G1000R, p.G1101R, p.I1102T, p.V1239G, and p.D1267V are deleterious; p.G1176E and p.G1287S are intermediate; p.E1173G is temperature-sensitive; p.T991M and p.I1148T have mild effects; and p.R1228T functions as wild-type. SIFT was the most accurate prediction tool (92% agreement with functional data), compared to PolyPhen (83%) and Align-GVGD (67%).
About ATP7B
This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
View all ATP7B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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