Figure 2 | Genetics in Medicine

Figure 2

From: Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype

Figure 2

Mutations distribution in WFS1. (a) Mutation position. Position and type of each mutation is shown in a schematic model of WFS1 protein. The position of the degron (amino acids 671–700),24 the first amino acid encoded by exon 8 (p.Lys287), the two glycosylation sites,22 and the amino acid positions at ER membrane contacts are indicated. Amino acid positions can have more than one mutation and have a different color only if affected by different mutation types. Color code identifies mutation types at that amino acid position: blue, type I mutation; red, type II; green, type III; cyan, type II or III; yellow, type I or II. (b) Mutation distribution. The number of mutations is calculated for a 10-amino-acid sliding window along the protein. White boxes below the chart indicate windows including the transmembrane domains; blue box indicates windows including the degron.24 Glycosylation sites22 are also indicated at their approximated locations. ER, endoplasmic reticulum.

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