cDNA Name
|
c.3687C>A
|
Protein Name
|
p.Asn1229Lys
|
Exon or Intron
|
exon 22
|
Other Details
|
This mutation was identified on one Italian CF chromosome. The above mutation was identified by DGGE analysis and confirmed by DNA sequencing.
|
Contributors and Institutes
|
Angius A. | - | Pediatria- Lab. Di Genetica Molecolare- Università degli Studi di Perugia | Stasi M. | - | Pediatria- Lab. Di Genetica Molecolare- Università degli Studi di Perugia | Sokol B. | - | Pediatria- Lab. Di Genetica Molecolare- Università degli Studi di Perugia | Furbetta M. | - | Pediatria- Lab. Di Genetica Molecolare- Università degli Studi di Perugia |
|
Submitted Phenotype Details
|
This mutation has been found in an adult ( 40y old), Italian man studied for couple’s infertility. He had a normal semen analysis.
|
Reference
|
|