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Table 2 Clinical information and MMP21 variant characteristics in HTX patients with complex cardiac malformations

From: De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children

Patient ID

Gender

Age (year)

Diagnosis of HTX

Diagnosis of cardiovascular malformation

Base change

Amino acid change

SIFT

Mutation taster

PolyPhe2 _HDIV

1000 Genomes allele frequency

gnomAD allele frequency

P58

F

3

Dextrocardia

TGA/VSD/PS

c.G731A

p. G244E

0.007 (D)

1.0 (DC)

0.995 (D)

–

–

P7

F

1

Dextrocardia/RAI/CSS

PLSVC/SA/SV/TAPVC/PS/RAA

c.C829T

p. L277F

0.003 (D)

1.0 (DC)

0.997 (D)

–

–

P61

M

10

RAI/CSS

PAD/AVSD/SV

c.A1459G

p. K487E

0.011 (D)

0.01 (N)

0.849 (P)

–

0.00005915

  1. F female; M male; RAI right atrial isomerism; CSS cardiosplenic syndrome; TGA transposition of great arteries; VSD ventricular septal defect; PS pulmonary stenosis; PLSVC persistent left superior vena cava; SA single atrium; SV single ventricle; TAPVC total anomalous pulmonary venous connection; RAA right aortic arch; PAD pulmonary artery dysplasia; AVSD atrioventricular septal defect; D damaging; DC disease causing; N polymorphism; P possibly damaging
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Human Genomics

ISSN: 1479-7364