From: Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon
Family | Sex | Age at Diagnosis | Phenotype | mPAP (mmHg) | Gene | Mutation | familial/ sporadic | Zygosity | ExAC AF | 1000 G AF | SIFT | Polyphen2 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
A | F | 5 | Large ASD and PAH | 45 | BMPR2 | p.Q6* | s (de novo) | Heterozygous | N/A | N/A | ||
B | F | 38 | PAH | 50 | BMPR2 | p.N126S | f | Heterozygous | Damaging | Probably Damaging | ||
C | F | 25 | PAH | 50 | BMPR2 | p.R491W | f | Heterozygous | Damaging | Damaging | ||
F | 25 | PAH | 94 | BMPR2 | p.R491W | f | Heterozygous | Damaging | Damaging | |||
D | F | 11 | VSD and PAH | 88 | BMPR2 | p.S775 N | s | Heterozygous | 0.02516 | 0.00998403 | Tolerated | Benign |
E | F | 6 | ASD and PAH | 36 | BMPR2 | p.S775 N | s | Heterozygous | 0.02516 | 0.00998403 | Tolerated | Benign |
F | M | 46 | PAH | 50 | BMPR2 | p.S775 N | s | Heterozygous | 0.02516 | 0.00998403 | Tolerated | Benign |
G | M | 4 | VSD and PAH | 43 | s | |||||||
H | M | 11 | PAH | 77 | s | |||||||
I | F | 1 | PAH VSD/ASD | 33 | s | |||||||
J | M | 22 | PAH | 56 | s | |||||||
K | F | 20 | PAH | 50 | s | |||||||
L | F | 31 | PAH | 41 | s | |||||||
M | F | 45 | PAH | 58 | s | |||||||
N | F | 26 | PAH | 62 | s | |||||||
O | F | 30 | PAH | 63 | s | |||||||
P | F | 57 | PAH | 46 | s | |||||||
Q | F | 7 | PAH | 55 | s | |||||||
R | F | 6 | PAH | 40 | s | |||||||
S | M | 78 | PAH | 49 | s | |||||||
T | M | 34 | PAH | 40 | s |