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. 2016 Jun 15;24(11):1565–1571. doi: 10.1038/ejhg.2016.62

Table 1. Variants identified in PEX6 and PEX1 in individuals with HS.

Family Gene Variant Type of variant (DNA level) Predicted amino acid change CADDv1.3a Reference Alleles dbSNP142b Alleles EVSc AllelesExACd
1 PEX6e c.654C>G Non-synonymous SNV p.(F218L) 23.8 None N/A N/A N/A
1, 2 and 3 PEX6e c.1802G>A Non-synonymous SNV p.(R601Q) 35 Yik et al.,8 Ebberink et al.,9 Ratbi et al.6 rs34324426; 5/5008 42/13006 316/98988(includes 4 homozygotes)
2 PEX6e c.275T>G Non-synonymous SNV p.(V92G) 22.9 None N/A N/A N/A
3 PEX6e c.296G>T Non-synonymous SNV p.(R99L) 29.4 None N/A N/A N/A
4 PEX6e c.1314_1321delGGAGGCCT Eight nucleotide deletion p.(E439Gfs*3) 33 Krause et al.,22 Ebberink et al.21 rs267608216; no allele frequency stated 1/12518 4/121224
4 PEX6e c.2714G>T Non- synonymous SNV p.(C905F) 34 None N/A N/A N/A
5 PEX6e c.1715C>T Non- synonymous SNV p.(T572I) 23.5 Raas-Rothschild et al.,23 Ebberink et al. 21 rs61753224; no allele frequency stated N/A N/A
6 PEX1f c.1792delA Single-nucleotide deletion p.(Q598Tfs*11) 35 None N/A N/A N/A
6 PEX1f c.2966T>C Non- synonymous SNV p.(I989T) 29.6 Maxwell et al.,24 rs61750427; 2/10016 N/A 6/120686

For each variant, its CADDv1.3 score (a measure of deleteriousness) is stated and it is indicated whether the variant has been described before, either in a publication or in a database of human variation. If identified, the frequency of the variant in the database studied is stated as the number of reported variant alleles over the total number of alleles sequenced at that locus.

All databases were accessed 7 March 2016.

a

Combined Annotation Dependent Depletion (CADD) v1.3 (http://cadd.gs.washington.edu/info).

b

Database of Single Nucleotide Polymorphisms build ID: 142 (dbSNP142), Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine (http://www.ncbi.nlm.nih.gov/SNP/).

c

Exon Variant Server (EVS) (http://evs.gs.washington.edu/EVS/) version 0.3

d

Exome Aggregation Consortium (ExAC), Cambridge, MA (http://exac.broadinstitute.org).

e

PEX6: Ensembl: ENST00000304611 or GenBank: NM_000287.3.

f

PEX1: Ensembl: ENST00000248633 or GenBank: NM_000466.2.