Table 3.

Selected PANK2 Pathogenic Variants

DNA Nucleotide Change
(Alias 1)		Predicted Protein Change
(Alias 1)		Reference Sequences 2
c.680A>Gp.Tyr227Cys NM_153638​.2
NP_705902​.2
c.1351C>T 3
(1021C>T)		p.Arg451Ter 3
(Arg341Ter)
c.1561G>A
(1231G>A) 3, 4		p.Gly521Arg 3, 4
(Gly411Arg)
c.1583C>T 3
(1253C>T)		p.Thr528Met 3
(Thr418Met)
c.1413-1G>T 5
(IVS4-1G>T)		-- NM_153638​.2

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

2.

Reference sequence is for the longest isoform, PANK2 isoform 1 preproprotein.

3.

Common pathogenic variants (allele frequency): p.Gly521Arg (25%); p.Thr528Met (8%); p.Arg451Ter (3%)

4.

Homozygosity for this allele results in classic disease.

5.

Pathogenic variant resulting in PKAN, originally seen in an individual diagnosed with HARP syndrome [Ching et al 2002]

From: Pantothenate Kinase-Associated Neurodegeneration

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