The sequence variant c.2849G>C in exon 23 changes arginine in position 950 to proline (p.Arg950Pro). It has only been detected on the same allele (in cis) as the the variant of uncertain clinical significance p.Cys501Ser. Studies in transfected cells show that p.Pro950 is inactive, but processed and localized to the lysosomes. p.Arg950 is located to the surface and 3d-modelling indicates that p.Arg950Pro may interfere with the folding process. |
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