ABCMdb

ABCC7 p.Ala107Val

CF databases:	c.320C>A , p.Ala107Asp (CFTR1) ? , c.320C>G , p.Ala107Gly (CFTR1) ? ,
Predicted by SNAP2:	C: N (61%), D: N (53%), E: N (57%), F: D (71%), G: N (82%), H: D (66%), I: N (61%), K: N (57%), L: N (61%), M: D (59%), N: N (72%), P: D (53%), Q: N (72%), R: N (61%), S: N (87%), T: N (82%), V: N (72%), W: D (71%), Y: D (71%),
Predicted by PROVEAN:	C: N, D: N, E: N, F: N, G: N, H: D, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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Publications
[hide] Three novel mutations in the CFTR gene identified ... J Cyst Fibros. 2008 Nov;7(6):520-2. Epub 2008 Aug 3. Rana-Diez P, Colon C, Alonso-Fernandez JR, Solar A, Barros-Tizon JC, Barros-Casas D, Sirvent J, Carracedo A, Barros F
Three novel mutations in the CFTR gene identified in Galician patients.
J Cyst Fibros. 2008 Nov;7(6):520-2. Epub 2008 Aug 3., [PMID:18676185]

Abstract [show]
We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V.

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No. Sentence Comment
2 In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V. Login to comment
12 From these analyses we discovered three mutations in the CFTR gene not previously described in the literature: one homozygous S1045Y and two compound heterozygous, A107V and M595I, both combined with the F508del mutation. Login to comment
52 3.3. Case 3: patient A107V/F508del A male born in 1981, diagnosed with clinical symptoms compatible with cystic fibrosis at 8 years old, with a F508del mutation detected at that stage. Login to comment
64 In this patient we found an amino acid change A107V from alanine (GCT) to valine (GTT) at codon 107 in exon 4 of the CFTR. Login to comment
68 To predict the possible impact Table 1 New CFTR mutations found in Galician patients and bioinformatic predictions AA change Exon Polyphena PSICb PMUTc Reliabilityd S1045Y 17A Possibly damaging 1.864 Pathological 7 M595I 13 Benign 1.310 Neutral 3 A107V 4 Possibly damaging 1.602 Pathological 2 a Polyphen prediction about the impact of the amino acid substitution on the function of the protein. Login to comment
84 In the last case, a patient with the A107V/F508del genotype showed important pulmonary problems. Login to comment