Application | Comment | Organism |
---|---|---|
medicine | identification of a single homozygous region near the telomere of chromosome 17 in a cohort of patients with cutis laxa type 2. The single nucleotide change leads to a missense mutation adjacent to a slice junction in the gene encoding pyrroline-5-carboxylate reductase 1 which results in exon skipping and leads to deletion of reductase functional domain-coding region and an obligatory downstream frameshift | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | identification of a single homozygous region near the telomere of chromosome 17 in a cohort of patients with cutis laxa type 2. The single nucleotide change leads to a missense mutation adjacent to a slice junction in the gene encoding pyrroline-5-carboxylate reductase 1 which results in exon skipping and leads to deletion of reductase functional domain-coding region and an obligatory downstream frameshift | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P32322 | patients with cutis laxia type 2 | - |