Table 1 of
Chen, Mol Vis 2015; 21:1378-1386. Table 1 of
Chen, Mol Vis 2015; 21:1378-1386.
Table 1. Mutations in KRT3 and KRT12 associated with MECD.
| Gene | Exon | Nucleotide change | Amino acid change | References |
|---|---|---|---|---|
| KRT3 | 1 | c.250C>T* | p.(Arg84Trp)* | Current study |
| 7 | c.1493A>T | p.(Glu498Val) | [10] | |
| 7 | c.1508G>C | p.(Arg503Pro) | [26] | |
| 7 | c.1525G>A | p.(Glu509Lys) | [6] | |
| KRT12 | 1 | c.385A>G | p.(Met129Val) | [27] |
| 1 | c.386T>C | p.(Met129Thr) | [28,29] | |
| 1 | c.389A>C | p.(Gln130Pro) | [31,32] | |
| 1 | c.395T>A | p.(Leu132His) | [33] | |
| 1 | c.395T>C | p.(Leu132Pro) | [8] | |
| 1 | c.399T>G | p.(Asn133Lys) | [9] | |
| 1 | c.403A>G | p.(Arg135Gly) | [15] | |
| 1 | c.404G>T | p.(Arg135Ile) | [15] | |
| 1 | c.404G>C | p.(Arg135Thr) | [29,30] | |
| 1 | c.405A>C | p.(Arg135Ser) | [13] | |
| 1 | c.409G>C | p.(Ala137Pro) | [34] | |
| 1 | c.419T>G | p.(Leu140Arg) | [15] | |
| 1 | c.419T>A | p.(Leu140Gln) | [31] | |
| 1 | c.427G>C | p.(Val143Leu) | [6] | |
| 1 | c.427G>T | p.(Val143Leu) | [18] | |
| 6 | c.1198_1199ins27 | p.(Leu399_Gln400ins9) | [13] | |
| 6 | c.1276A>G | p.(Ile426Val) | [35] | |
| 6 | c.1277T>G | p.(Ile426Ser) | [28] | |
| 6 | c.1285T>G | p.(Tyr429Asp) | [15] | |
| 6 | c.1286A>G | p.(Tyr429Cys) | [26] | |
| 6 | c.1288_1293delinsAGCCCT | p.(Arg430_Arg431delinsSerPro) | Current study | |
| 6 | c.1289G>C | p.(Arg430Pro) | [36] | |
| 6 | c.1298T>G | p.(Leu433Arg) | [37] |