Fig. 2
From: Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome
A Pedigree of the patient with CMTX4. Family members are identified by generation and number. Squares indicate male family members; circles indicate female member; symbol with bias indicate carrier; arrow indicate proband. C means wild-type sequence, G means c.931C>G in patient, CG means carrier. Arrow indicate the proband. B Sanger Sequencing confirmed the variation in patients; Sequence analysis of new mutations of c.931C>G; p.L311V. (Black=G, Red=T, Blue=C, Green=A) C The domain of AIFM1, at the mutation position of c.931C>G; p.L311V, Conservative analysis and Comparison of the functional domains: Compared sequence of amino acid, mutation sites (red domain) show a high degree of conservatism in different species. Known AIFM1 mutation with CMTX4 marked by red. D Meta Dome predicted the variant amino site is intolerant. E Surface charge diagram of AIFM1; Diagrams displaying the position of Leu311 and Val 311, respectively. yellow dashed lines show Distance between adjacent molecules