ABCC7 p.Pro5Leu

ClinVar: c.14C>T , p.Pro5Leu D , Likely pathogenic
CF databases: c.14C>T , p.Pro5Leu (CFTR1) D , This mutation was detected by SSCP analysis, followed by direct sequencing. Mutation P5L was found in 1/50 unrelated Spanish CF non-[delta]F508 chromosomes.
Predicted by SNAP2: A: D (53%), C: N (53%), D: D (66%), E: D (71%), F: D (71%), G: D (66%), H: D (63%), I: D (63%), K: D (71%), L: D (66%), M: D (59%), N: D (59%), Q: D (53%), R: D (71%), S: D (53%), T: D (53%), V: D (63%), W: D (71%), Y: D (66%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Thelin WR, Chen Y, Gentzsch M, Kreda SM, Sallee JL, Scarlett CO, Borchers CH, Jacobson K, Stutts MJ, Milgram SL
Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.
J Clin Invest. 2007 Feb;117(2):364-74. Epub 2007 Jan 18., [PMID:17235394]

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[hide] Sanz J, von Kanel T, Schneider M, Steiner B, Schaller A, Gallati S
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.
Eur J Hum Genet. 2010 Feb;18(2):212-7. Epub 2009 Sep 2., [PMID:19724303]

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[hide] Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Stamato A, Narzi F, Amato A, Cimino G, Bertasi S, Quattrucci S, Strom R
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Mol Med. 2015 Apr 21;21:257-75. doi: 10.2119/molmed.2014.00229., [PMID:25910067]

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