Table 2.
Case No | domain | Type of mutation | Nucleotide change | Amino acid change |
---|---|---|---|---|
1;50;51;55 | HD-N exon 26 | Point mutation | c.*4766C>T | S1590F |
3;60;70 | Pest exon 34 | Deletion | c.7486 del A | N2497T |
4;20;22 | Pest exon 34 | Insertion | c. 7526_7527 ins C | E2516L H2508A |
5;8;65 | Pest exon 34 | Point mutation | c.*550C>T | P2518L |
6;74;72 | Pest exon 34 | Insertion | c. 7542_7483 insT | S2517F |
10;23;27 | Pest exon 34 | Insertion | c. 7542_7483 insG | E2516G S2517V |
11;54;61 | Tad exon 34 | Deletion | c.6821 del C | T2285A |
15;44;71 | HD-N exon 26 | Point mutation | c.*4916A>C | E1636A |
16;90;92 | HD-N exon 26 | Deletion | 4609 Del A | C1537L K1538Q |
18;73;104 | HD-N exon 26 | Point mutation | c.*5011G>A | V1672I |
20;61;69 | HD-C exon 27 | Point mutation | c.*5027T>A | V1677D |
25;44;77 | Pest exon 34 | Insertion | c. 7543_7544 ins A | S2517v |
28, 30;66 | Pest exon 34 | Insertion | c. 7481_7482 insG | DEL DNT2496 INS GQH |
29;57;88 | Pest exon 34 | Deletion | c.7486 del A | N2497T T2498P |
Insertion | c. 7489_7490 insC | |||
33;101 | Pest exon 34 | Point mutation | c. *7513C>G | Del peh2506 ins AGA |
Del, deletion; ins, insertion