G6SGlucosamine-6-Sulphatase (lysosomal enzyme)
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Indeed, the DNA sequencing data showed that there are two variants present in this particular individual, a G6S (+30 Da shift in protein mass) and a V30A (-28 Da shift in protein mass).
Nominal Protein Confirmed DNA mass shift Sample mutation mutation (a) (Da) A G6S GGT [right arrow] AGT 30 B T60A ACT [right arrow] GCT 30 C G6S GGT [right arrow] AGT 30 D E54G GAG [right arrow] GGG 72 E S77Y TCT [right arrow] TAT 76 F G47E GGG [right arrow] GAG 72 G S77Y TCT [right arrow] TAT 76 Monoisotopic neutral mass,bDa Sample Observed Theoretical A [13 782.
The mutation detection probe, G6S-DET (5'-CCAGTGAATCCAAGTGTCCTCTG-3'), which was complementary to the G6S mutant genotype, was labeled with the acceptor fluorophore LC-Red640 at the 5' end and phosphorylated at the 3' end.