ABCMdb

ABCC7 p.Gly1244Asp

ClinVar:	c.3731G>A , p.Gly1244Glu D , Pathogenic c.3730G>A , p.Gly1244Arg ? , not provided c.3731G>T , p.Gly1244Val ? , not provided
CF databases:	c.3731G>A , p.Gly1244Glu D , CF-causing ; CFTR1: This missense mutation was detected in an Italian PI patient through DGGE screening and direct sequencing. The nucleotide changeis G3863-A and generates a Gly to Glu substitution in codon 1244. As a result the recognition site for MboII starting at nucleotide 3863 is destroyed. The mutation was found only once out of 110 non-[delta]F508 Italian CF chromosomes analyzed in Paris by the DGGE technique and it was not found in 45 non-[delta]F508 CF French chromosomes. c.3730G>A , p.Gly1244Arg (CFTR1) ? , This mutation was identified on one Italian CF chromosome, applying a protocol of extended mutational search (5?-flanking region, all the exons and adjacent intronic regions) by direct sequencing. No other mutations were found on the same allele. The mutation 3849+10KbCtoT was found on the other allele. The G1244R mutation was not found in 232 alleles from the general population. c.3731G>T , p.Gly1244Val (CFTR1) ? , This mutation in exon 20 reults in the substitution of valine for glycine at amino acid position 1244 (G1244V). The mutation was detected by SSCP analysis of exon 20 followed by direct sequencing. The nucleotide substitution abolishes an MboII restriction site. G1244V was detected in a single CF allele out of 105 non-[delta]F508 CF chromosomes screened. It has not been found on any of the 50 normal alleles screened. The mutation was found in the maternal CF allele in a patient of Bulgarian ehtnic background. The chromosomal haplotype is 2/1/1/16/31/13 (XV-2c/KM.19/d9/IVS8-CA/IVS17b-TA/IVS17b-CA). The paternal CF chromosome carries the G542X mutation.
Predicted by SNAP2:	A: D (95%), C: D (95%), D: D (95%), E: D (66%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: 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, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]

None has been submitted yet.

Publications
[hide] Cystic fibrosis in Arabs: a prototype from Jordan. Ann Trop Paediatr. 2000 Dec;20(4):283-6. Rawashdeh M, Manal H
Cystic fibrosis in Arabs: a prototype from Jordan.
Ann Trop Paediatr. 2000 Dec;20(4):283-6., [PMID:11219165]

Abstract [show]
Cystic fibrosis is believed to be rare in Arabs. We report 202 cases (114 boys and 88 girls) diagnosed in Jordan over a period of 9 years. The mean age at diagnosis was 2.9 years. Classical presentation with growth failure, malabsorption and respiratory symptoms occurred in 75.4% of cases. Eighteen (10.8%) presented with hepatomegaly, 12 (7.2%) with meconium ileus and 11 (6.6%) had Pseudo-Bartter syndrome. Thirty-eight (23%) children died, most below the age of 1 year which may reflect a more severe disease in our population. Consanguineous marriage was present in 69% of cases. Genetic screening of 84 children and 66 parents revealed 24 different CFTR mutations with a DF508 mutation accounting for only 7.4%. Among the mutations detected, six were alleles identified for the first time. The fact that boys outnumber girls might reflect more deaths in girls due to the observed gender gap in CF mortality. It is possible that the low incidence of the DF508 mutation is due to a confounding effect and the high mortality in those carrying this mutation. The large number of different mutations reflects the ethnic diversity of the Jordanian population and the complex history of the country.

Comments [show]

None has been submitted yet.

Sentences [show]
No. Sentence Comment
46 T, T338M, T760M, 3670delA, 4006delA and G1244D). Login to comment