In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs)

Sudandiradoss, C.; Sethumadhavan, Rao

doi:10.1007/s11568-009-9027-3

The HUGO Journal

Official Journal of the Human Genome Organisation

Table 2 Summary of nsSNPs that were predicted to have functional significance by SIFT algorithm

From: In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs)

Gene name	SNP ID	Nucleotide change	Amino acid change	Tolerance index	References
KCNQ1	rs45606931	A → G	362 K → R	0.01	Predicted in this work
	rs45594640	C → T	583 R → C	0.02	Tranebjaerg et al. (1999)
	rs45478697	C → T	341 A → V	0.00	Tranebjaerg et al. (1999)
	rs2522018	A → C	64 P → H	0.02	Predicted in this work
	rs179489	C → G	168 G → R	0.04	Splawski et al. (1998)
KCNH2	rs45607339	C → T	784 R → W	0.00	Splawski et al. (2000) and Yang et al. (2002)
	rs41314366	A → G	859 T → M	0.04	Predicted in this work
	rs41313074	A → G	1016 P → L	0.04	Splawski et al. (2000)
	rs36210422	C → T	176 R → W	0.01	Splawski et al. (2000) and Laitinen et al. (2000)
	rs28928904	G → T	593 I → R	0.01	Benson et al. (1996) and Splawski et al. (2000)
	rs11538710	A → T	506 I → N	0.00	Predicted in this work
	rs731506	G → T	41 V → G	0.00	Predicted in this work
SCN5A	rs45600438	C → T	568 R → C	0.00	Predicted in this work
	rs45589741	C → T	1249 F → L	0.00	Predicted in this work
	rs45563942	C → T	1835 I → T	0.05	Predicted in this work
	rs45546039	A → G	222 R → Q	0.00	Predicted in this work
	rs45514691	C → T	1582 R → C	0.02	Predicted in this work
	rs41313691	G → T	524 S → Y	0.04	Predicted in this work
	rs41313031	A → G	1307 L → F	0.02	Predicted in this work
	rs41276525	A → G	216 S → L	0.05	Predicted in this work
	rs28937318	A → G	367 R → H	0.01	Smits et al. (2002)
	rs28937316	A → G	1643 R → H	0.00	Splawski et al. (2000)
	rs6791924	A → G	34 R → C	0.00	Yang et al. (2002)
KCNE1	rs45457092	C → G	52 G → A	0.00	Predicted in this work
KCNE1	rs28933384	C → T	7 T → I	0.00	Schulze-Bahr et al. (1997)
KCNE2	rs45600841	C → T	60 F → L	0.00	Millat et al. (2006)
	rs45476493	C → T	66 A → V	0.02	Predicted in this work
	rs35759083	A → G	8 T → I	0.00	Abbott et al. (1999) and Millat et al. (2006)
	rs2234916	A → G	8 T → A	0.00	Abbott et al. (1999) and Millat et al. (2006)

nsSNP scores found to have functional significance by both SIFT and PolyPhen are shown in bold

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