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Table 1 Variant characteristics

From: TRPM4 non-selective cation channel variants in long QT syndrome

Patient ID

cDNA

Exon

Protein

Local controls

EVS Eur-Am

ExAC Eur-Am

Combined controls

Fisher exact test

Interspecies conservation

Grantham score

snp&go

PhD-SNP

SNAP Prediction

SNAP Expected Accuracy

Predict SNP1.0

1

c.1321 G > A

11

p.V441M

0/551

A = 0/G = 8600

A = 6/G = 66466

6/82637

0.015*

12/12

21

Disease (5)

Disease (7)

Non-neutral

78%

Deleterious (76%)

2

c.1495 C > T

11

p.R499W

1/410

T = 2/C = 8588

T = 12/C = 62148

15/78160

0.036*

6/12

101

Neutral (1)

Disease (3)

Non-neutral

70%

Deleterious (87%)

3

c.1496 G > C

11

p.R499P

0/410

C = 0/G = 8588

C = 0/G = 62148

0/78160

0.002*

6/12

103

Disease (5)

Disease (7)

Non-neutral

63%

Neutral (73%)

4

c.2531 G > A

17

p.G844D

4/1000

A = 13/G = 8359

A = 37/G = 8324

55/18440

0.417

7/9a

94

Neutral (7)

Neutral (4)

Non-neutral

78%

Neutral (75%)

  1. Combined controls: total of local controls and all European controls of EVS and ExAC databases
  2. Abbreviations: EVS Eur-Am Exome Variant Server European American population, ExAC Exome Aggregation Consortium
  3. *p < 0.05
  4. anot conserved in Platypus and Fugu