OMIA 002065-9685 : Niemann-Pick disease, type C2 in Felis catus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601015

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2014

Molecular basis: Zampieri et al. (2014): "intronic mutation located 5 nt downstream of the canonical donor splice site of exon 1"; c.82+5G>A; "the mutation affects the splicing process causing the retention of 105 bp of intron 1 in the mature mRNA, which would lead to the in frame insertion of 35 amino acids between residues 28 and 29 of the NPC2 protein (p.G28_S29ins35)."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NPC2 Niemann-Pick disease, type C2 Felis catus B3 NC_018728.3 (121873193..121864475) NPC2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the required column headers

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Niemann-Pick disease, type C2 NPC2 splicing Felis_catus_6.2 B3 g.120939103G>A c.82+5G>A p.G28_S29ins35 2014 25396745 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


2014 Zampieri, S., Bianchi, E., Cantile, C., Saleri, R., Bembi, B., Dardis, A. :
Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease. PLoS One 9:e112503, 2014. Pubmed reference: 25396745. DOI: 10.1371/journal.pone.0112503.

Edit History


  • Created by Frank Nicholas on 29 Oct 2016