Mutant | mutation | Position of mutation (bp) | Effect on predicted protein |
---|---|---|---|
2G | G to A | 7167 | amino acid 889 change G to D |
4C | G to A | 9108 | amino acid 1030 change G to E |
4G | G to A | 3444 | amino acid 228 change E to K |
2B | C to T | 5317 | premature stop codon after amino acid 567 |
3E | G to A | 738 | splice site mutation at intron 3, premature stop |
3F | G to A | 9974 | splice site mutation at intron 21, premature stop |
4E | G to A | 276 | splice site mutation at intron 1, premature stop |
2F | G to A | 10495 | splice site mutation at intron 22, partial deletion |