Figure  3. .

Mutations in KCNV2 channel protein. A, Domain structure of KCNV2, with the approximate position of mutations (circles) linked to electropherograms showing sequence in patient DNA. B, KCNV2 disease-associated mutations. Affected individuals from families 1–6 were homozygotes for the variant indicated. Only a single missense mutation was found in family 10; the “missing” mutation is indicated by a quotation mark. Additionally, the proband of family 4 was heterozygous for L533V, and the proband of family 8 also had D147F in phase with Q145X.