Table 3

Characteristics of the novel missense mutations unique to the Swedish cohort
Gene Exon Nucleotide change Amino acid change Region GD SIFT PolyPhen Align-GVGD Segregation analysis
KCNQ1 3 c.506C>G p.T169R S2 71 not tolerated Possibly damaging C0 de novo
3 c.509A>G p.E170G S2-S3 98 not tolerated Probably damaging C0 Yes
5 c.734G>T p.G245V S4-S5 109 not tolerated Probably damaging C0 Borderline
7 c.973G>T p.G325W S6 184 not tolerated Probably damaging C65 Yes
KCNH2 2 c.182A>G p.Q61R PAS 43 not tolerated Possibly damaging C0 de novo
2 c.284A>G p.E95G PAC 98 not tolerated Probably damaging C0 de novo
5 c.1094A>G p.E365G N-term 98 not tolerated Possibly damaging C0 Yes
7 c.1706A>G p.Y569C S5 194 not tolerated Probably damaging C65 Borderline
9 c.2312A>G p.H771R cNBD 29 not tolerated Probably damaging C25 N/A
SCN5A 2 c.86C>T p.A29V N-term 65 not tolerated Probably damaging C65 Yes
22 c.3893C>T p.P1298L DIII-S4 98 not tolerated Possibly damaging C65 N/A

GD, Grantham distance ordered from largest difference (GD=215) between the substituted amino acids to no difference (GD=0); SIFT, sorting intolerant from tolerant; PolyPhen, Polymorphism Phenotyping predicting variants as probably damaging, possibly damaging or benign; Align-GVGD, Align Grantham variation and Grantham distance ordered from most likely (C65) to interfere with function to least likely (C0); Segregation analysis: Yes, segregation demonstrated; de novo, mutation not present in either parent; Borderline, non-penetrant or borderline QTc; N/A, samples not available or missing data.

Stattin et al.

Stattin et al. BMC Cardiovascular Disorders 2012 12:95   doi:10.1186/1471-2261-12-95

Open Data