DNA Alteration Details

System ID: 215

Gene: ABCA1

Chromosome: Z

Variant Type: missense

Deleterious: yes

Year Discovered: 2002

Is Defect?: Yes

Mode of Inheitance: Z-linked Recessive

Reference Sequence: GRCg6a

Variant Source: Naturally occurring variant

Genomic or Mitochondrial: g.54877918C>T

Coding DNA Sequence or Genomic DNA Sequence: c.265G>A

Protein Sequence: p.(E89K)

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Description: a genetic change or mutation in the coding DNA sequence of a gene, where a guanine (G) nucleotide has been replaced by an adenine (A) at position 265, due to the mutation.

Trait: Disease -> Disease: Analphalipoproteinaemia

Breeds: Wisconsin hypoalpha mutant (WHAM)