Fig. 2 | Genetics in Medicine

Fig. 2

From: Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

Fig. 2

ABCC1 variants identified in postlingual hearing loss cases. (a) Sequence analysis for six variants screened in familial and sporadic cases. (b) Conservation analysis of amino acid sequences was performed by ClustalX Multiple Sequence Alignment tool. Variants at position 231, 242, 296 were conserved through evolution. (c) Predicted topology of ABCC1 secondary structure. ABCC1 contains five ___domain structures with two nucleotide binding domains (NBDs) and 17 transmembrane helices (TMs) in three transmembrane domains (TMD0, TMD1, and TMD2). Linker L0 at COOH-terminus connects TMD0 and TMD1. Locations of variants identified in familial and sporadic cases are marked by red arrows. (d) Three-dimensional modeling of human ABCC1.

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