DNA Alteration Details

System ID: 218

Gene: MPDZ

Chromosome: Z

Variant Type: nonsense (stop-gain)

Deleterious: yes

Year Discovered: 2011

Is Defect?: Yes

Mode of Inheitance: Z-linked

Reference Sequence: GRCg6a

Variant Source: Naturally occurring variant

Genomic or Mitochondrial: g.31023848G>A

Coding DNA Sequence or Genomic DNA Sequence: c.1372C>T

Protein Sequence: p.(R458*)

Reference Website: Visit website

Verbal Description: a genetic change or mutation in the coding DNA sequence of a gene, where a cytosine (C) nucleotide has been replaced by an thymine (T) at position 1372, due to the mutation.

Trait: Disease -> Disease: Retinal dysplasia and degeneration

Breeds: NA