DNA Alteration Details

System ID: 223

Gene: WWP1

Chromosome: 2

Variant Type: missense

Deleterious: yes

Year Discovered: 2008

Is Defect?: Yes

Mode of Inheitance: Autosomal Co-Dominant

Reference Sequence: GRCg6a

Variant Source: Naturally occurring variant

Genomic or Mitochondrial: g.123014353G>A

Coding DNA Sequence or Genomic DNA Sequence: c.1322G>A

Protein Sequence: p.(R441Q)

Reference Website: Visit website

Verbal Description: a genetic change or mutation in the coding DNA sequence of a gene, where a guanine (G) nucleotide has been replaced by a adenine (A) nucleotide at position 1322.

Trait: Disease -> Disease: Muscular dystrophy

Breeds: NH-413 strain