Table 2.
Patients | Localization | Codon | Nucleotide change | Aminoacid change | Reference |
---|---|---|---|---|---|
5 | Exon 1 | 15 | CTCCTG | A15A | 1 |
1, 2, 5, 7 | Exon 1 | 17 | GCCGCA | L17L | 2 |
1, 2, 5 | Exon 1 | 27 | ATCCTC | I27L | 2 |
1 | Exon 1 | 98 | GCCGTC | A98V | 2 |
6 | Exon 2 | 141 | CAGCAA | Q141Q | 1 |
2, 3, 5 | Exon 4 | 288 | GGGGGC | G288G | 3 |
2 | Exon 8 | 515 | ACGACA | T515T | 4 |
Legend: (1) present paper, (2) Yamagata et al. (1996b), (3) Yang et al. (2006), (4) Jafar-Mohammadi et al. (2009).