Table 3.
Review of GNPTAB mutations in 54 Chinese patients with ML II/III
| Mutation type | Exon | Nucleotide change | Amino acid change | No. of alleles | Allele frequency | Reference | Geographic location |
|---|---|---|---|---|---|---|---|
| Missense | E1 | c.100G>C | p.A34P | 1 | 0.93% (1/108) | This study | East China |
| Missense | E9 | c.1001G>A | p.R334Q | 1 | 0.93% (1/108) | [18] | East China |
| Missense | E9 | c.1001G>C | p.R334P | 2 | 1.85% (2/108) | This study | East China |
| Missense | E10 | c.1120T>C | p.F374L | 1 | 0.93% (1/108) | [34] | East China |
| Missense | E10 | c.1222G>A | p.D408N | 1 | 0.93% (1/108) | This study | East China |
| Missense | E12 | c.1600G>A | p.D534N | 1 | 0.93% (1/108) | This study | East China |
| Missense | E13 | c.2345C>T | p.S782F | 3 | 2.78% (3/108) | [30] | North China |
| Missense | E15 | c.2990A>G | p.Y997C | 1 | 0.93% (1/108) | This study | East China |
| Missense | E15 | c.3053A>T | p.D1018V | 1 | 0.93% (1/108) | This study | East China |
| Missense | E15 | c.3074T>C | p.L1025S | 1 | 0.93% (1/108) | This study | East China |
| Missense | E15 | c.3098T>C | p.L1033P | 1 | 0.93% (1/108) | This study | East China |
| Nonsense | E2 | c.132G>A | p.W44× | 2 | 1.85% (2/108) | This study | East China |
| Nonsense | E2 | c.136C>T | p.R46X | 2 | 1.85% (2/108) | [18] | East China |
| Nonsense | E8 | c.835G>T | p.E279X | 2 | 1.85% (2/108) | This study | East China |
| Nonsense | E9 | c.1000C>T | p.R334X | 1 | 0.93% (1/108) | [18] | East China |
| Nonsense | E9 | c.1071G>A | p.W357× | 3 | 2.78% (3/108) | [33] | North China |
| Nonsense | E9 | c.1090C>T | p.R364X | 19 | 17.59% (19/108) | [18] | East and North China |
| Nonsense | E10 | c.1212C>G | p.Y404X | 2 | 1.85% (2/108) | [30] | North China |
| Nonsense | E10 | c.1247G>A | p.W416× | 1 | 0.93% (1/108) | This study | East China |
| Nonsense | E11 | c.1389G>A | p.W463× | 1 | 0.93% (1/108) | This study | East China |
| Nonsense | E13 | c.2213C>A | p.S740X | 1 | 0.93% (1/108) | [30] | North China |
| Nonsense | E13 | c.2356C>T | p.Q786X | 1 | 0.93% (1/108) | [30] | North China |
| Nonsense | E13 | c.2404C>T | p.Q802X | 2 | 1.85% (2/108) | This study | East China |
| Nonsense | E13 | c.2455G>T | p.E819X | 4 | 3.70% (4/108) | [30] | East and North China |
| Nonsense | E13 | c.2533C>T | p.Q845X | 2 | 1.85% (2/108) | [11] | East China |
| Nonsense | E13 | c.2644C>T | p.Q882X | 1 | 0.93% (1/108) | This study | East China |
| Nonsense | E15 | c.3091C>T | p.R1031X | 1 | 0.93% (1/108) | [18] | East China |
| Nonsense | E19 | c.3565C>T | p.R1189X | 2 | 1.85% (2/108) | [9] | East China |
| Nonsense | E20 | c.3613C>T | p.R1205X | 2 | 1.85% (2/108) | [11] | East and North China |
| Frameshift | E1 | c.88_89delAC | p.T30Hfs*24 | 1 | 0.93% (1/108) | This study | East China |
| Frameshift | E1 | c.99delC | p.A34Pfs*49 | 3 | 2.78% (3/108) | [30] | East and North China |
| Frameshift | E5 | c.523_524delAAinsG | p.N175Afs38X | 1 | 0.93% (1/108) | [30] | North China |
| Frameshift | E7 | c.648_651delAGAA | p.E217Sfs*4 | 1 | 0.93% (1/108) | [18] | East China |
| Frameshift | E8 | c.890_891insT | p.S298Kfs*16 | 1 | 0.93% (1/108) | This study | East China |
| Frameshift | E10 | c.1150_1151insTTA | p.-384I | 1 | 0.93% (1/108) | This study | East China |
| Frameshift | E12 | c.1523delG | p.G508Dfs*39 | 1 | 0.93% (1/108) | This study | East China |
| Frameshift | E13 | c.2473_2474insA | p.T825Nfs*37 | 2 | 1.85% (2/108) | This study | East China |
| Frameshift | E13 | c.2550_2554delGAAAA | p.K850Nfs10X | 1 | 0.93% (1/108) | [13] | North China |
| Frameshift | E13 | c.2693dupA | p.Y899Vfs*21 | 1 | 0.93% (1/108) | [18] | East China |
| Frameshift | E14 | c.2821dupA | p.I941Nfs4X | 1 | 0.93% (1/108) | [30] | North China |
| Frameshift | E15 | c.2980_2983delGCCT | p.A994Sfs*8 | 1 | 0.93% (1/108) | This study | East China |
| Frameshift | E15 | c.3094delA | p.T1032Hfs*11 | 4 | 3.70% (4/108) | This study | East China |
| Splicing | IVS1 | c.118-1G>A | Splicing | 1 | 0.93% (1/108) | [30] | North China |
| Splicing | IVS13 | c.2715+1G>A | Splicing | 13 | 12.04% (13/108) | [9] | East and North China |
| Splicing | IVS15 | c.3136-2A>G | Splicing | 4 | 3.70% (4/108) | [30] | East and North China |
| Deletion | E9 | delE9 | 1 | 0.93% (1/108) | This study | East China |
Note: Bold letters indicate number of alleles >1