Figure 2 | Human Genome Variation

Figure 2

From: A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

Figure 2

Mutation in SYNE1 observed in the present family. (a) Direct nucleotide sequencing of PCR-amplified DNA around codon 6,843 on exon 46 of the SYNE1 gene. The arrow head denotes the deleted base. The DNA and corresponding amino-acid sequences of the wild-type and mutant SYNE1 alleles are also shown. (b) Schematic diagram of Nesprin-1 and some of the major alternating isoforms, and locations of reported SYNE1 variants. The location of the mutation in this study is denoted by the arrow head. Circle variants are missense variants, triangles are splice site variants, and rectangles are truncated variants. Biallelic variants are shown in a solid color. AMC, autosomal recessive arthrogryposis multiplex congenital; CH, a pair of N-terminal CH domains; KASH, C-terminal Klarsicht/ANC-1/Syne homology (KASH) domain; MND, motor neuron disease; Others, autism and pontocerebellar hypoplasia; SCAR8, autosomal recessive cerebellar ataxia type 8; SR, spectrin repeats.

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