Table 3.
Update of the mutation annotation according to reference sequence NM00082. In the original articles, reference sequence BC013979 was used (+1 located at the −28 position of NM000821).
| cDNA Annotation in Original Article | Corrected cDNA Annotation | Protein Annotation | Original Article |
|---|---|---|---|
| c.791G>A | c.763G>A | p.(V255M) | Li et al., 2009 [37] |
| c.927C>T | c.899C>T | p.(S300F) | Li et al., 2009 [37] |
| c.1148C>T | c.1120C>T | p.(Q374X) | Li et al., 2009 [48] |
| c.1454G>C | c.1426C>T | p.(R476C) | Vanakker et al., 2007 [36] |
| c.1455G>A | c.1427G>A | p.(R476H) | Vanakker et al., 2007 [36] |
| c.1149C>T | c.1120C>T | p.(Q374X) | Vanakker et al., 2007 [36] |
| c.1339G>T | c.1610G>C | p.(G537A) | Vanakker et al., 2007 [36] |
| c.1530G>C | c.1502G>C | p.(W501S) | Spronk et al., 2000 [22], Moussalem et al., 2001 [50] |
| c.1358+1G>T | c.214+1G>T | Splice site mutation | Titapiwatanakun et al., 2009 [25] |
| c.10364+3A>G | c.1609+3A>G | Splice site mutation | Titapiwatanakun et al., 2009 [25] |
| c.1565G>T | c.1565G>T | p.(W493C) | Darghouth et al., 2009 [29] |
| c.2196C>T | c.2100C>T | p.(R704X) | Darghouth et al., 2009 [29] |
For Darghouth et al., 2009 and Titapiwatanakun et al., 2009 the reference sequence was not mentioned.