Article
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
Human mutation - 1 Aug 2005
Møller Lisbeth Birk, Bukrinsky Jens Thostrup, Mølgaard Anne, Paulsen Marianne, Lund Connie, Tümer Zeynep, Larsen Sine, Horn Nina
Abstract excerpt
ATP7A encodes a copper-translocating ATPase that belongs to the large family of P-type ATPases. Eight conserved regions define the core of the P-type ATPase superfamily. We report here the identification of 21 novel missense mutations in the conserved part of ATP7A that encodes the residues p.V842-p.S1404. Using the coordinates of X-ray crystal structures of the sarcoplasmic reticulum Ca(2+)-ATPase, as determined...
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