Fig. 4
From: New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
Sequence analysis and identification of the novel pathogenic variants of ALMS in the affected Chinese family 2 with Alström Syndrome. a Pedigree of the family. The filled black symbols represent the fake members, and the arrow denotes the proband. b By sequencing analysis, compound heterozygous variants of M1: NM_015120.4:c.10379del (NP_055935.4:p.(Asn3460IlefsTer49)) and M2: NM_015120.4:c.10819C > T (NP_055935.4:p.(Arg3607Trp)) were identified in the affected individuals of II:1 and II:2. c The homology of amino acid sequences between human ALMS and other species. The amino acid at position 3640 (Glutamic acid, E3460) is highly conserved among species d The homology of amino acid sequences between human ALMS and other species. The amino acid at position 3607 (Arginine, R3607) is highly conserved among species