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Fig. 5. acc embryos have mutations in atp2a1/SERCA1. (A) Physical mapping to the LN54 radiation hybrid panel shows that atp2a1 is close to netrin 1. (B) Missense mutations are found in SERCA1 of all three acc alleles. SERCA1 contains 10 transmembrane domains (1-10, purple), phosphorylation domains (blue) and a nucleotide binding domain (green). The white crosses indicate the positions of the mutation in the acc allele. The nucleotide and amino acid changes are shown on the right. (C) Alignment of vertebrate SERCA1 proteins showing that all mutations are found in the completely conserved residues. Shaded residues indicate conserved amino acids. Triangles (red) indicate the position of the mutation in the acc allele.

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