ABCC7 p.Met152Arg

ClinVar: c.454A>G , p.Met152Val ? , not provided
c.455T>G , p.Met152Arg ? , not provided
CF databases: c.454A>G , p.Met152Val (CFTR1) ? , This mutation was discovered by SSCP. Probes synthesized for the normal and the mutant sequences showed that the patient was homozygous for this mutation. A vlaine for a methionine change is usually regarded as a conservative one and one not causing disease. The patient in question, who is Egyptian, is 21 years old and has a somewhat mild disease and does not have any of the common mutations. Whether being homozygous for this change is enough to cuase CF or other mutation are to be found in her CFTR gene will require further study. No mutations have been found by SSCP in exon 7, 10, 11 and 21 so far.
c.454A>T , p.Met152Leu (CFTR1) ? ,
c.455T>G , p.Met152Arg (CFTR1) ? , T->G alteration at cDNA 587 in exon 4, resulting in Met (ATG) to Arg (AGG) change at the amino acid residue 152. It also produces a new restriction site with enzyme Mnl I. Restriction digestion of a PCR-amplified fragment of exon 4 with this enzyme further confirmed the presence of this mutation in the patient. The patient is a 11-month girl born to healthy Japanese parents without consanguineous marriage. At birth, she was found to have meconium ileus and subsequently underwent surgical operation for it. She also has pancreatic insufficiency and pulmonary manifestations such as cough anfd sputum, and exhibited high sweat Cl level (126 mEq/L), indicating that she has a clinical phenotype of typical CF. Genetic analysis using PCR-SSCP combined with direct sequencing revealed that she is a compound heterozygote with two novel CFTR mutations: 1540del10 and M152R
Predicted by SNAP2: A: D (63%), C: D (53%), D: D (85%), E: D (80%), F: D (53%), G: D (80%), H: D (80%), I: N (87%), K: D (85%), L: N (82%), N: D (80%), P: D (85%), Q: D (71%), R: D (71%), S: D (53%), T: D (71%), V: N (72%), W: D (85%), Y: D (75%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, N: D, P: D, Q: D, R: D, S: D, T: N, V: N, W: D, Y: D,

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[hide] Naruse S, Ishiguro H, Suzuki Y, Fujiki K, Ko SB, Mizuno N, Takemura T, Yamamoto A, Yoshikawa T, Jin C, Suzuki R, Kitagawa M, Tsuda T, Kondo T, Hayakawa T
A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis.
Pancreas. 2004 Apr;28(3):e80-5., [PMID:15084988]

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[hide] Fujiki K, Ishiguro H, Ko SB, Mizuno N, Suzuki Y, Takemura T, Yamamoto A, Yoshikawa T, Kitagawa M, Hayakawa T, Sakai Y, Takayama T, Saito M, Kondo T, Naruse S
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis.
J Med Genet. 2004 May;41(5):e55., [PMID:15121783]

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[hide] Ngukam A, Jacquemont ML, Souville I, Viel M, Beldjord C, Hubert D, Hughes JN, Bienvenu T
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
J Trop Pediatr. 2004 Aug;50(4):239-40., [PMID:15357566]

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[hide] Izumikawa K, Tomiyama Y, Ishimoto H, Sakamoto N, Imamura Y, Seki M, Sawai T, Kakeya H, Yamamoto Y, Yanagihara K, Mukae H, Yoshimura K, Kohno S
Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.
Intern Med. 2009;48(15):1327-31. Epub 2009 Aug 3., [PMID:19652440]

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