ABCC7 p.Met595Ile
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PMID: 18676185
[PubMed]
Rana-Diez P et al: "Three novel mutations in the CFTR gene identified in Galician patients."
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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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ABCC7 p.Met595Ile 18676185:2:170
status: NEW12 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.
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ABCC7 p.Met595Ile 18676185:12:174
status: NEW42 3.2. Case 2: patient M595I/F508del A male born in 1991, the first live birth (two previous stillbirths) with no neonatal pathology.
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ABCC7 p.Met595Ile 18676185:42:21
status: NEW49 In this patient we found amino acid change M595I: methionine (ATG) to isoleucine (ATA) at codon 595 in exon 13 of CFTR.
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ABCC7 p.Met595Ile 18676185:49:43
status: NEW51 The patient we describe was found to have a F508del mutation in combination with M595I.
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ABCC7 p.Met595Ile 18676185:51:81
status: NEW68 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.
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ABCC7 p.Met595Ile 18676185:68:215
status: NEW80 The patient with genotype M595I/F508del did not show severe respiratory symptoms.
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ABCC7 p.Met595Ile 18676185:80:26
status: NEW