Mutation Details for c.3731G>T

cDNA Name c.3731G>T 
Protein Name p.Gly1244Val 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name G1244V 
Other Details 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. 
Contributors Savov A, Angelicheva D, Jordanova A, Kalaydjieva L   1993-08-30
Institute University Obstetrics and Gynaecology Hospital Bulgaria 
Submitted Phenotype Details One patient (male, 10y), diagnosed at 2 months with CF. Sweat chloride 92-109 mmol/l, is PI, has severe chronic pulmonary disease. Tha patient carries S912L on the same allele and G542X on the other allele. The mutation was observed in 4 additional patients(pers. corr. Savov) 
Reference Savov et al. 1994b 

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  • Savov A, Jordanova A, Gavrilov D, Angelicheva D, Kalaydjieva L   G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.   1994 003;3(3):513-4

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The Database was last updated at Apr 25, 2011