Mutation Details for c.3410T>G

cDNA Name c.3410T>G 
Protein Name p.Met1137Arg 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name M1137R 
Other Details The M1137R mutation has been found once in 59 non-[delta]F508 chromosomes from the Portuguese population, associated with haplotype C. The patient carries the F1052V mutation on the other chromosome and presents a mild form of CF. M1137R was found neither in 28 normal chromosomes nor in 31 [delta]F508 CF chromosomes. 
Contributors Duarte A, Lavinha J, Barreto C, Lopez B   1995-01-10
Institute Instituto Nacional de Saude, Lisboe, Portugal 
Submitted Phenotype Details The patient (female, 20) has asthma since childhood. She was first suspected of having CF when 4 years old. She is PS and has sweat chloride 82 mmol/L (Wescor Macroduct Sweat Check), with a quantitative test: 34 mmol/L. FEV1 113%. The subject carries F1052V on the other allele. The diagnosis of CF was not confirmed. (pers. corr. Barreto) 
Reference Duarte et al. (NL#65) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011