Fig. 1: The pedigree, molecular analysis and predicted structure of the mutant protein in the patient in family I. | Human Genome Variation

Fig. 1: The pedigree, molecular analysis and predicted structure of the mutant protein in the patient in family I.

From: Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes

Fig. 1

a Pedigree of the proband in Family I. b Sequencing results of Family I (SQSTM1 gene). c Schematic diagram of the sequestosome-1 protein and location of the p.Arg22Pro mutation. d Evolutionary conservation analysis of arginine amino acids in different species (human: Homo sapiens, Orangutan: Pongo abelii, mouse: Mus musculus, rat: Rattus norvegicus, Pig: Sus scrofa, whale: Physeter microcephalus, chicken: Gallus gallus, fish: Gadus morhua, frog: Xenopus laevis, lizard: Anolis carolinensis), e predicted structure of wild-type and mutant proteins via the DynaMut-2 web server.

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