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Fig. 3 | BMC Ophthalmology

Fig. 3

From: New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome

Fig. 3

Sequence analysis and identification of the novel pathogenic variants of ALMS in the affected Chinese family 1 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.11641_11642del (NP_055935.4:p.(Val3881ThrfsTer11)) and M2: NM_015120.4:c.6754G > T (NP_055935.4:p.(Asp2252Tyr)) were identified in the affected individuals of II:1. c The homology of amino acid sequences between human ALMS1 and other species. The amino acid at position 3881 (Methionine, M3881) is highly conserved among species (d) The homology of amino acid sequences between human ALMS and other species. At position 2252 (Glutamic acid, E2252), the amino acid is relatively conserved among species

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