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
|
|
|
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.
|
|
|
|
|
