The sequence variant c.1204G>A (dbSNP rs1054486) in exon 9 changes glutamic acid in amino acid position 402 to lysine (p.Glu402Lys. It has not been detected among controls, and in patients it always appears on the same allele (in cis) as the splice site mutation c.1026+2A>G in intron 7. Studies in transfected cells show that p.Lys402 is active, processed correctly and localized to the lysosomes. It is considered a rare, benign variant in linkage disequilibrium with a more severe variant. |
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