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Literature summary for 1.5.1.2 extracted from

  • Guernsey, D.L.; Jiang, H.; Evans, S.C.; Ferguson, M.; Matsuoka, M.; Nightingale, M.; Rideout, A.L.; Provost, S.; Bedard, K.; Orr, A.; Dube, M.P.; Ludman, M.; Samuels, M.E.
    Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2 (2009), Am. J. Hum. Genet., 85, 120-129.
    View publication on PubMedView publication on EuropePMC
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Application

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

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

Organism UniProt Comment Textmining
Homo sapiens P32322 patients with cutis laxia type 2
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