Table 2.
Base change | Codon encoded amino acid sites | Protein change | Mutation type* | N cases | Incidence % (N = 463) |
---|---|---|---|---|---|
1227th G > A | 332 | Arg→Gln | M | 2 | 0.4 |
1268th C > T | 346 | Pro→Ser | M | 1 | 0.2 |
1624th C > T | 464 | Thr→Thr | S | 4 | 0.8 |
1633th G > A | 467 | Lys→Lys | S | 1 | 0.2 |
2029th T > C | 599 | Asn→Asn | S | 1 | 0.2 |
2238th T > C | 669 | Met→Thr | M | 4 | 0.8 |
2309th G > A | 693 | Asp→Asn | M | 1 | 0.2 |
2798th T > C | 856 | Tyr→His | M | 8 | 1.7 |
2844th C > T | 871 | Pro→Leu | M | 3 | 0.6 |
3236th C > T | 1002 | Asn→Asp | M | 1 | 0.2 |
452th the beginning AGAAACA > TT | 1083 | Termination codon | N | 1 | 0.2 |
3589th T > A | 1119 | Thr→Thr | S | 1 | 0.2 |
3678th C > G | 1149 | Thr→Arg | M | 1 | 0.2 |
3709th A > G | 1159 | Ile→Met | M | 1 | 0.2 |
3971th G > A | 1247 | Val→Ile | M | 5 | 1.1 |
3986th C > G | 1252 | Leu→Val | M | 3 | 0.6 |
4030th C > G | 1421 | Ser→Arg | M | 1 | 0.2 |
4200th started missing AAAT | 1334 | Termination codon | F | 1 | 0.2 |
Mutation type: M missense mutation; S samesense mutation; N nonsense mutation; F frame-shifting mutation.