Legend: [ CYP27A1 full legend ]
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.
Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1. 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. Protein: Variation at protein level. CYP27A1 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.