Table 2 Mutations observed in troponin I ( TNNI3 ) gene of the cases/controls
S.NO | Position | Location | AA Change | Major/Minor Allele | Mutations observed | Reported/Novel | |
|---|---|---|---|---|---|---|---|
Control | HCM | ||||||
1 | g.1389 | Intron 1 | --- | (T/C) | Nil | 2 | rs11667847 |
2 | g.1403 | Intron 1 | --- | (A1/G) | Nil | 1 | rs11671293 |
3 | g.1215 | Intron 1 | C/A | Nil | 1 | rs3729707 | |
4 | g.1486-90 | Intron 1 | 4b p del/In | ACAG | P | P | poly |
5 | g.1698 | Intron 2 | --- | (T/C) | Nil | 4 | rs3729836 |
6 | g.1810 | Intron 3 | --- | (G/A) | Nil | 3 | rs3729837 |
7 | g.1897 | Intron 3 | --- | (G/A) | Nil | 22 | rs3729838 |
8 | g.2560 | Exon 5 | R68R | (G/T) | Nil | 4 | rs3729711 |
9 | g.2563 | Exon 5 | R69R | (C/A) | Nil | 2 | Reported |
10 | g.2601 | Exon 5 | P82R | (C/G) | 1 | 2 | Reported |
11 | g.2653 | Intron 5 | --- | (G/A) | Nil | 1 | Novel |
12 | g.4003 | Intron 6 | --- | (C/T) | Nil | 2 | Novel |
13 | g.4019 | Exon 6 | R98Q | G/A) | Nil | +1(S) | Novel |
14 | g.4682 | Exon 7 | R141Q | (G/A) | Nil | 2 | Reported to be associated with HCM |
15 | g.4745 | Exon 7 | R162Q | (G/A) | Nil | 1+8 (FM) | Reported to be associated with HCM |
16 | g.4797 | Exon 7 | E179E | (G/A) | Nil | 1+6 (FM) | rs3729841 |