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The allelic variants listed here are a collection of those we have found in literature and which were submitted directly to the database. When you notice that we have missed allelic variants or when you detect mistakes, please let us know.
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Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE , Hum.Mut. 15:7-12); for a summary see Nomenclature.
Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. ATP7A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Variant remarks: Variant remarks Technique: Technique used to detect the variation. Template: Variant detected in DNA, RNA and/or Protein.