Table 2 Mutation alleles frequency of RETT patients
From: Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome
Patient No. | Mutation of MECP2 | Mutation type | Novel mutation | |
|---|---|---|---|---|
Nucleotide change | Amino acid change | |||
1–4 | c.473C > T | p.T158 M | Missense | No |
5–8 | c.808C > T | p. R270X | Nonsense | No |
9–10 | c.763C > T | p.R255X | Nonsense | No |
11–12 | c.502C > T, | p. R168X | Nonsense | No |
13 | c.1384-1385del GT | V462fs | Frameshift | Yes |
14 | c.763C > T | p.R255X | Nonsense | No |
c.1205insT | p.P402Lfs | Frameshift | Yes | |
15 | Exon 4 deletion | _ | Large deletion | No |
16 | c.(164–182)del 19 | p.Q56fs | Frameshift | No |
(1148–1193)del 46 | p.L383fs | Frameshift | No | |
17 | c.717del C | p.A240fs | Frameshift | Yes |
18 | c.806del G | p. G269fs | Frameshift | No |
19 | c.1132_1207del77 | A378fs | Deletion | Yes |
20 | c.917G > A | p.R306H | Missense | No |