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Table 4 The hn RNPs and SR proteins binding site sequences in normal and mutant as predicted by “Splicing Rainbow” tool

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

SNP

LOCATION

Splicing Rainbow & the binding site sequences

   

Normal

 

Mutant

1

g.2653:G > A

Intron 5

GGATGCGAGG

hnRNP.U1U2

(Site destroyed)

2

g.4003:C > T

Intron 6

TCCTCCTCCA

hnRNP.E1E2

(Site destroyed)

   

(No site)

hnRNP.I1 I2

CCACGTTCCTCTTCCAG (New site)

   

CCTCCTCC

SRp20

CCTCTTCCA

   

CTCCTCCA

SC 35

(Site destroyed)

   

(No site)

U2AF65

TCTT (New site)