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

From: Spectrum of PEX1 and PEX6 variants in Heimler syndrome

Family

Gene

Variant

Type of variant (DNA level)

Predicted amino acid change

CADDv1.3 a

Reference

Alleles dbSNP142 b

Alleles EVS c

AllelesExAC d

1

PEX6 e

c.654C>G

Non-synonymous SNV

p.(F218L)

23.8

None

N/A

N/A

N/A

1, 2 and 3

PEX6 e

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

PEX6 e

c.275T>G

Non-synonymous SNV

p.(V92G)

22.9

None

N/A

N/A

N/A

3

PEX6 e

c.296G>T

Non-synonymous SNV

p.(R99L)

29.4

None

N/A

N/A

N/A

4

PEX6 e

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

PEX6 e

c.2714G>T

Non- synonymous SNV

p.(C905F)

34

None

N/A

N/A

N/A

5

PEX6 e

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

PEX1 f

c.1792delA

Single-nucleotide deletion

p.(Q598Tfs*11)

35

None

N/A

N/A

N/A

6

PEX1 f

c.2966T>C

Non- synonymous SNV

p.(I989T)

29.6

Maxwell et al.,24

rs61750427; 2/10016

N/A

6/120686

  1. 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.
  2. All databases were accessed 7 March 2016.
  3. aCombined Annotation Dependent Depletion (CADD) v1.3 (http://cadd.gs.washington.edu/info).
  4. bDatabase 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/).
  5. cExon Variant Server (EVS) (http://evs.gs.washington.edu/EVS/) version 0.3
  6. dExome Aggregation Consortium (ExAC), Cambridge, MA (http://exac.broadinstitute.org).
  7. ePEX6: Ensembl: ENST00000304611 or GenBank: NM_000287.3.
  8. PEX1: Ensembl: ENST00000248633 or GenBank: NM_000466.2.
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