ABCC7 p.Ala1025Asp
| CF databases: |
c.3074C>A
,
p.Ala1025Asp
(CFTR1)
?
, This heterozygous mutation was identified in a patient of Thai origin.
|
| Predicted by SNAP2: | C: N (82%), D: D (75%), E: D (75%), F: D (71%), G: D (53%), H: D (80%), I: N (78%), K: D (75%), L: N (57%), M: D (66%), N: D (66%), P: D (63%), Q: D (63%), R: D (80%), S: N (57%), T: N (72%), V: N (78%), W: D (80%), Y: D (66%), |
| Predicted by PROVEAN: | C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Novel contributions to the Asian CFTR mutation spe... Am J Med Genet A. 2005 Feb 15;133A(1):103-5. Schrijver I, Karnsakul W, Limwongse C, Ramalingam S, Sankaran R, Gardner P, Moss R
Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis.
Am J Med Genet A. 2005 Feb 15;133A(1):103-5., 2005-02-15 [PMID:15744829]
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No. Sentence Comment
65 TABLE I. Summary of Patient Genotypes and Phenotypes Patient 1 Patient 2 Patient 3 Genotype 4330delTG/3206 C > A, A1025D 405 þ 1G > A/1001 þ 3A > T 738G > A, W202X/738G > A, W202X Presenting features Hyponatremic hypochloremic metabolic alkalosis at 4 months FTT, pneumonia, hyponatremic hypochloremic metabolic alkalosis at 4 months FTT, pneumonia, hyponatremic hypochloremic metabolic alkalosis at 4 months Sweat chloride QPIT: 62 meq/L QPIT: 60 meq/L QPIT test not done due to acute illness Pancreatic insufficiency No Yes Yes Pulmonary symptoms No major symptoms at 4 months Respiratory infections Respiratory failure and sepsis.
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ABCC7 p.Ala1025Asp 15744829:65:114
status: NEW