Table 3 The MPP2 mutations in 2081 VKH patients by target region sequencing (TRS)
AAChange | cDNAchange | exon | Mutations(frequency) | Gene | ExonicFunc |
|---|---|---|---|---|---|
A5T | G13A | exon1 | 5/4162 | NM_001278372 | nonsynonymous SNV |
S15C | C44G | exon1 | 25/4162 | NM_001278376 | nonsynonymous SNV |
E26A | A77C | exon1 | 2/4162 | NM_001278370 | nonsynonymous SNV |
W30X | G89A | exon1 | 26/4162 | NM_001278370 | stopgain SNV |
W30X | G90A | exon1 | 1/4162 | NM_001278370 | stopgain SNV |
L41F | C121T | exon2 | 1/4162 | NM_001278370 | nonsynonymous SNV |
L41P | T122C | exon2 | 1/4162 | NM_001278370 | nonsynonymous SNV |
N61I | A182T | exon4 | 1/4162 | NM_001278372 | nonsynonymous SNV |
T82M | C245T | exon5 | 1/4162 | NM_001278372 | nonsynonymous SNV |
P158L | C473T | exon6 | 1/4162 | NM_001278372 | nonsynonymous SNV |
G172R | G514A | exon6 | 1/4162 | NM_001278372 | nonsynonymous SNV |
R222H | G665A | exon7 | 1/4162 | NM_001278372 | nonsynonymous SNV |
P246S | C736T | exon7 | 1/4162 | NM_001278372 | nonsynonymous SNV |
H247Y | C739T | exon7 | 1/4162 | NM_001278372 | nonsynonymous SNV |
K271E | A811G | exon8 | 1/4162 | NM_001278372 | nonsynonymous SNV |
G335S | G1003A | exon10 | 1/4162 | NM_001278372 | nonsynonymous SNV |
R387Q | G1160A | exon11 | 2/4162 | NM_001278372 | nonsynonymous SNV |
T409A | A1225G | exon12 | 1/4162 | NM_001278372 | nonsynonymous SNV |
Y423S | A1268C | exon12 | 1/4162 | NM_001278372 | nonsynonymous SNV |
N473S | A1418G | exon12 | 1/4162 | NM_001278372 | nonsynonymous SNV |
A507V | C1520T | exon13 | 1/4162 | NM_001278372 | nonsynonymous SNV |
R524Q | G1571A | exon14 | 1/4162 | NM_001278372 | nonsynonymous SNV |
E527G | A1580G | exon14 | 1/4162 | NM_001278372 | nonsynonymous SNV |
P567L | C1700T | exon14 | 1/4162 | NM_001278372 | nonsynonymous SNV |
