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. 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717

Figure 1.

Figure 1

(A) Distribution of all mutations in the ABCA12 gene in our cohort of 62 patients. A total of 34 novel mutations are shown in bold and 28 previously published mutations are shown in non-bold. Red: Transmembrane domain 1 and 2 in the ABCA12 protein. Green: ATP-binding cassettes 1 and 2 in the ABCA12 protein. The transmembrane domains range from amino acids 1063 to 1271 and 1987 to 2208; the ATP binding cassettes range from amino acids 1346 to 1577 and 2254 to 2489, including the AAA domains amino acids 1370 to 1554 and 2282 to 2467 (InterPro 92.0 [22], SMART 9.0 [23]). (B) Spectrum of mutations in ABCA12. In the cohort of 64 patients, 62 mutations were found: 35.5% are missense mutations, 27.5% truncating deletions/duplications, 22.5% nonsense mutations, and 14.5% splice site mutations. (C) Percentage distribution of phenotypes in our cohort. Patients with HI and CIE are diagnosed with greater frequency and LI is less common. The grouping of others consists of patients with unknown phenotypes or with phenotypes which cannot be clearly assigned. (D) Combinations of mutation classes in patients with HI, CIE, or LI in our cohort. Truncating mutations on both alleles or the combination of a truncating mutation on one allele with a splice site mutation on the other allele always led to HI in our cohort, whereas missense mutations on both alleles mainly led to CIE or LI.