Mutation Details for c.416A>T
|
|
cDNA Name
|
c.416A>T
|
|
Protein Name
|
p.His139Leu
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
H139L
|
|
Other Details
|
This mutation has been identified in exon 4 as H139L (A to T at 548) in six Bahraini patients that belong to five unrelated families. The first patient is a heterozygous H139L / K1177X. The second and third patients are heterozygous siblings for 3120+1G->A. Finally the last three unrelated patients are heterozygous H139L / Unknown.
|
|
Contributors
|
Eskandarani H A
2001-09-24
|
|
Institute
|
Dept of Biochemistry, College of Medicine & Medical Sciences
Arabian Gulf University,
Bahrain
|
|
Submitted Phenotype Details
|
(pers. corr. Eskandarani)
2 patients - 1 male 1 yr old, CF diagnosed at about 1 year of age, PI, moderate lung disease, elevated sweat chloride, failure to thrive. He has 3120+1G->A on the other allele.
- 1 female, 2 yrs old, CF diagnosed at about 1 year of age, severe lung disease, failure to thrive She had meconium ileus. She has K1177X on the other allele.
(Banjar et all 1999)
One patient, with typical CF, PI, elevated sweat chloride. Unknown other mutation.
|
|
Reference
|
Eskandarani 2001
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
