ABCC7 p.Asn1303Phe

ClinVar: c.3908A>T , p.Asn1303Ile ? , not provided
c.3909C>G , p.Asn1303Lys D , Pathogenic
c.3907A>C , p.Asn1303His D , Pathogenic
CF databases: c.3909C>G , p.Asn1303Lys D , CF-causing ; CFTR1: The substitution was found in three adult British Caucasian patients all of whom are heterozygous for the mutation. Two of the patients are pancreatic sufficient with mild to moderate lung disease, and their other chromosomes carry an, as yet, uncharacterized mutation. In all patients the substitution appears to be associated with the haplotype 1,2,2 at XV-2C, KM19 and pMP6d-9 respectively. The third patient has the 551 mutation on the other chromosome, is pancreatic insufficient and died in respiratory failure at the age of 22.
c.3907A>C , p.Asn1303His (CFTR1) ? , The mutation can be detected by ASO hybridization (normal: 5'-TAG AAA AAA CTTGGA-3'; mutant: 5'-TAG AAA ACA CTT GGA-3'). The patient is 22 years old and is originating from the Kabilie ethnic group (North Africa); he presents a severe disease, including hepatic and exocrine pancreatic insufficiencies.
c.3908A>T , p.Asn1303Ile (CFTR1) ? ,
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: N (78%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
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, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Frentescu L, Brownsell E, Hinks J, Malone G, Shaw H, Budisan L, Bulman M, Schwarz M, Pop L, Filip M, Tomescu E, Mosescu S, Popa I, Benga G
The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.
J Cyst Fibros. 2008 Sep;7(5):423-8. Epub 2008 May 7., [PMID:18467194]

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