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Table 2 Mutations observed in troponin I ( TNNI3 ) gene of the cases/controls

From: High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians

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
  1. AA- Amino acid, HCM-Hypertrophic cardiomyopathy, P-Polymorphic, SNP-Single nucleotide polymorphism, Nil- No mutation observed, S-Son, FM-family members.