Location | Nucleotide change | Amino acid change | Allele number | Previously reported in Koreans |
---|---|---|---|---|
Missense mutation | ||||
Exon 2 | c.92A > G | p.His31Arg | 1 | Ko et al. [14] |
Exon 3 | c.302C > A | p.Ala101Asp | 1 | This study, novel |
Exon 4 | c.346C > A | p.Leu116Ile | 2 | Ko et al. [14], this study |
Exon 5 | c.493 T > C | p.Tyr165His | 1 | This study, novel |
Exon 5 | c.507G > C | p.Gln169His | 5 | |
Exon 6 | c.557A > C | p.His186Pro | 3 | Ko et al. [14] |
Exon 7 | c.602G > A | p.Arg201His | 2 | Ko et al. [14], this study |
Exon 8 | c.769C > A | p.Pro257Thr | 1 | This study, novel |
Exon 10 | c.940A > G | p.Asn314Asp* | 18 | Ko et al. [14], this study |
Exon 10 | c.998G > A | p.Arg333Gln | 3 | This study† |
Exon 11 | c.1087G > A | p.Glu363Lys | 2 | Lee et al. [15], this study |
Small deletion/insertion leading to frameshift | ||||
Exon 3 | c.286_299delGACAACGACTTCCC | p.Asp96Serfs*5 | 2 | This study, novel |
Small deletion/insertion (in-frame) | ||||
Exon 9 | c.826_827delinsAA | p.Ala276Asn | 1 | This study, novel |
Silent exonic variation | ||||
Exon 10 | c.999G > A | p.Arg333= | 1 | Ko et al. [14] |
Splicing aberration | ||||
IVS 2 | c.252 + 1G > A | Exon 2 deletion | 3 | Lee et al. [15] |
IVS 6 | c.565-2A > G | Exon 7 deletion | 1 | Ko et al. [14] |
IVS 8 | c.821-7A > G | Exon 9 deletion | 3 | Ko et al. [14], this study |
Predicted to cause splicing aberration | ||||
IVS 4 | c.378-1G > C | p.? | 1 | This study, novel |
Considered as a rare polymorphism | ||||
IVS 1 | c.82 + 20_82 + 60del | p.? | 1 | This study, novel‡ |