List of mutations recorded in the
| Mutation type | Nucleotide change | cDNA position | Amino acid change | Exon | Status | Frequency, N (%) |
|---|---|---|---|---|---|---|
| Missense | g.11313C>T | c.127C>T | p.R43W | 2 | Reported (rs1603264205) | 9 (6.0%) |
| Missense | g.11381G>A | c.195G>A | p.M65I | 2 | Reported (rs763568424) | 1 (0.66%) |
| Missense | g.11383A>T | c.197A>T | p.E66V | 2 | Reported (CM940423) | 3 (2.0%) |
| Missense | g.11384A>T | c.198A>T | p.E66D | 2 | Not reported | 12 (8.0%) |
| Stop-gain | g.11409 C>T | c.223C>T | p.R75a) | 2 | Reported (rs137852227) | 2 (1.33%) |
| Missense | g.15369 T>C | c.304C>T | p.C102R | 4 | Reported (CM960574) | 2 (1.33%) |
| Missense | g.22664 T>C | c.314A>G | p.G143R | 5 | Reported (CM940499) | 4 (2.66%) |
| Missense | g.22706 G>A | c.470G>A | p.C157Y | 5 | Reported (rs1367198680) | 17 (11.33%) |
| Missense | g.25386 A>G | c.580A>G | p.T194A | 6 | Reported (rs6048) | 3 (2.0%) |
| Missense | g.25482C>T | c.676C>T | p.R226W | 6 | Reported (rs137852240) | 6 (4.0%) |
| Missense | g.36020 G>A | c.1070G>A | p.G357E | 8 | Reported (rs137852275) | 8 (5.33%) |
| Stop-gain | g.36044C>A | c.1094C>A | p.S365a) | 8 | Not reported | 15 (10.0%) |
| Missense | g.36137G>A | c.1187G>A | p.C396Y | 8 | Reported (rs137852273) | 1 (0.66%) |
| Missense | g.36182 G>A | c.1232G>A | p.S411N | 8 | Reported (rs137852276) | 3 (2.0%) |
| Synonymous | g.36335 A>G | c.1385A>G | p.Ter462= | 8 | Reported (rs561793582) | 1 (0.66%) |
| 3’ UTR | g.37446A>G | c.*1110A>G | ……… | 8 | Not reported | 3 (2.0%) |
a)NG_007994.1, NM_000133.4, and NP_000124.1 reference sequences wereused for genomic DNA variant nomenclature, coding region variant nomenclature, and protein variant nomenclature, respectively. All nomenclatures were made according to Human Genome Variation Society (HGVS) guidelines.
Blood Res 2021;56:252~258 https://doi.org/10.5045/br.2021.2021016
© Blood Research
© 2024. BLOOD RESEARCH All rights reserved. Powered by INFOrang Co., Ltd