1 - 15
||Click here to save this list in a tab-delimited text file.|
Phenotypes based on age at testing and biochemistry, sometimes clinical data is also included.
Legend: [ PEX2 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:Allele 1: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Protein: Variation at protein level. PEX2 Variant/DBID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks