ABCA3 p.Leu326Arg
| ClinVar: |
c.977T>C
,
p.Leu326Pro
D
, Pathogenic
|
| Predicted by SNAP2: | A: N (53%), C: N (66%), D: D (66%), E: N (57%), F: N (66%), G: D (66%), H: N (57%), I: N (93%), K: D (59%), M: N (93%), N: D (53%), P: D (59%), Q: N (61%), R: D (59%), S: N (53%), T: N (66%), V: N (82%), W: D (63%), Y: N (61%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
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[hide] ABCA3 deficiency presenting as persistent pulmonar... J Pediatr. 2007 Sep;151(3):322-4. Kunig AM, Parker TA, Nogee LM, Abman SH, Kinsella JP
ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn.
J Pediatr. 2007 Sep;151(3):322-4., [PMID:17719949]
Abstract [show]
A newborn with persistent pulmonary hypertension (PH) unresponsive to conventional therapies was found to be homozygous for a mutation in the gene encoding adenosine triphosphate binding cassette protein, member A3 (ABCA3). Most causes of PH respond to lung recruitment, inhaled nitric oxide, and hemodynamic support. When PH is prolonged and does not respond to standard therapies, genetic causes of surfactant abnormalities should be considered in the differential diagnosis.
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No. Sentence Comment
37 DNA was prepared from peripheral blood leukocytes as described previously,4 and the child was subsequently found to be homozygous for a missense mutation (L326R) in the gene encoding ABCA3.
X
ABCA3 p.Leu326Arg 17719949:37:155
status: NEW