Table 4.
Cardiac involvement in patients with GGCX mutations. This table gives an overview of all patients in the analyzed cohort with cardiac involvement. For each patient, the GGCX mutations on both alleles and the affected protein domain are stated (protein annotation). Further, a brief overview of the cardiac symptoms is shown.
| Id | Allele 1 | Allele 2 | SCD | PDA | Other | ||
|---|---|---|---|---|---|---|---|
| Annotation | Protein Domain | Annotation | Protein Domain | ||||
| 5 | p.(W157R) | HTTM (TMD3) | p.(T591K) | RmlC-like | x | ||
| 6 | p.(W157R) | HTTM (TMD3) | p.(T591K) | RmlC-like | x | ||
| 8 | p.(V255M) | HTTM | p.(S300F) | HTTM (TMD4) | * | ||
| 13 | p.(G72_L124del) | HTTM (TMD1 and -2) | p.(R485P) | near PP-BS | x | ||
| 25 | p.(R83P) | HTTM | p.(R83P) | HTTM | x | ||
| 27 | p.(W157R) | HTTM (TMD3) | c.2085-5T>C (splice) | near Gla domain | x | ||
| 28 | p.(S284P) | HTTM | p.(W315X) | HTTM | x | ||
| 47 | p.(D15_F71del) | N-terminus + HTTM (TMD1) | p.(D15_F71del) | N-terminus + HTTM (TMD1) | x | † | |
Gla: gamma-carboxyglutamate; HTTM: horizontally transferred transmembrane domain; Id: identification number; PDA: patent ductus arteriosus Botalli; PP-BS: propeptide binding site; RmlC: deoxythymidine-6-deoxy-d-xylo-4-hexulose 3,5 epimerase (EC5.1.3.13); RmlC-like: RmlC-like jelly roll fold; SCD: septal closure defects; splice: splice site mutation; TMD: transmembrane domain; * congenital supravalvular pulmonary stenosis and peripheral pulmonary artery stenosis; † Wolff-Parkinson-White syndrome.