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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications

Fig. 4

A: Mutation representation of FRMD7 protein in the FERM and FA structural domains. FERM is divided into three regions A/B/C and FA is the neighboring region. These four positions are hot mutation regions for mutations. B: Summary of mutations occurring on each exon. C: Exon 9 and exon 12 are the regions with the highest mutation rates, but the mutation types of the two are distinct: Exon 9 contains 31 mutations, 28 of which are missense mutations; Exon 12 contains 25 mutations, 21 of which are code-shifting mutations

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