ABCMdb

ABCC7 p.Met595Ile

CF databases:	c.1783A>G , p.Met595Val (CFTR1) ? , c.1784T>C , p.Met595Thr (CFTR1) ? , The M595T mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. This mutation is present with F508del on the same allele. A559T is present on the other allele . c.1785G>A , p.Met595Ile (CFTR1) ? , This mutation was identified by sequencing on one Spanish patient with suspect of a mild form of CF with allergic rhinitis-bronchial asthma who also had [delta]F508 mutation. It had never been observed ina 230 chromosomes of previously sequenced Galician subjects.
Predicted by SNAP2:	A: D (63%), C: D (53%), D: D (85%), E: D (85%), F: N (61%), G: D (80%), H: D (80%), I: N (72%), K: D (85%), L: N (87%), N: D (80%), P: D (85%), Q: D (71%), R: D (80%), S: D (75%), T: D (71%), V: D (53%), W: D (80%), Y: D (71%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D,

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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
42 3.2. Case 2: patient M595I/F508del A male born in 1991, the first live birth (two previous stillbirths) with no neonatal pathology. Login to comment
49 In this patient we found amino acid change M595I: methionine (ATG) to isoleucine (ATA) at codon 595 in exon 13 of CFTR. Login to comment
51 The patient we describe was found to have a F508del mutation in combination with M595I. 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
80 The patient with genotype M595I/F508del did not show severe respiratory symptoms. Login to comment