Table 1.
Position | Nucleotide changea | Resultant changea | 113 | 175 |
---|---|---|---|---|
Exon 4 | c.407A➔G | Missense mutation, D136G | 1b | 0 |
Exon 5 | c.633G➔A | Silent | 1 | 0 |
Intron 2 | –47G➔C | Intronic alteration | 2 | 0 |
Intron 4 | +42A➔C | Intronic alteration | 1 | 0 |
Polymorphisms | ||||
Exon 9 | c.922A➔G | Missense mutation, S222G | 19 | 25 |
Exon 10 | c.1026del(TGAGGA) | Del(ED) in a stretch of EDED | 22 | 40 |
Exon 13 | c.1373G➔A | Missense mutation, C370Y | 2 | 4 |
Intron 7 | –57C➔G | Intronic alteration | 1 | 1 |
Intron 8 | +52A➔G | Intronic SNP: rs3788764 | 44 | 61 |
Intron 10 | +91A➔G | Intronic SNP: rs3761514 | 40 | 60 |