Table 3

In silico analysis of long QT genetic variants found in eight victims of SIDS

GeneRefSeq accession numbers (transcript and protein) and UniProt numberVariant position (transcript, protein and exon)Bioinformatic programmesInterpretation
PolyPhen-2a,*Mutation Assessorb (Functional Impact)I-MUTANT 3.0cPMutdMutPredeSNPs&GOfPANTHERg
KCNQ1NM_000218.2
NP_000209.2
P51787
c.436G>A
p.E146K
E2
Benign (Scores: 0.250; 0.134)NeutralDisease (RI 6.0)Neutral (RS 0)Pdel: 0.859Disease (RI 5.0)Pdel: 0.31Pathogenic (LQTS1)
KCNH2NM_000238.2
NP_000229.1
Q12809
c.3140G>T
p.R1047L
E13
Benign (Scores: 0.039; 0.020)LowDisease (RI 2.0)Pathological (RS 8)Pdel: 0.373Disease (RI 1.0)Pdel: 0.42Pathogenic (LQTS2)
SCN5ANM_198056.2
NP_932173.1
Q14524
c.1673A>G
p.H558R
E6
Benign (Scores: 0.000; 0.000)NeutralNeutral (RI 6.0)Neutral (RS 6)Pdel: 0.086Neutral (RI 8.0)Pdel: 0.14Polymorphism
c.2275A>T†
p.I759F
E15
Benign (Scores: 0.003; 0.007)MediumDisease (RI 5.0)Neutral (RS 3)Pdel: 0.878Disease (RI 7.0)Pdel: 0.54Pathogenic (LQTS3)
c.3578G>A
p.R1193Q
E20
Benign (Scores: 0.001; 0.006)Low‡Disease (RI 6.0)Pathological (RS 3)Pdel: 0.825Neutral (RI 4.0)Pdel: 0.28Uncertain
c.4565T>A†
p.F1522Y
E27
Benign (Scores: 0.417; 0.116)LowNeutral (RI 1.0)Neutral (RS 8)Pdel: 0.823Disease (RI 4.0)Possibly pathogenic (LQTS3)