Table 5.

Select ETHE1 Pathogenic Variants

DNA Nucleotide Change
(Alias)		Predicted Protein ChangeReference Sequences
c.-83_-79delCGCCC 1--
p.Met1Ile NP_055112​.2
p.Gln12Ter
p.Ile23SerfsTer10
p.Tyr38Cys
p.Glu44ValfsTer62
p.Leu55Pro
p.Gln63Ter
p.Ala75SerfsTer32
p.Asn77IlefsTer68
c.375+5G>A-- NM_014297​.3
c.406A>Gp.Thr136Ala NM_014297​.3
NP_055112​.2
c.440_450del11p.His147LeufsTer30
c.455C>Tp.Thr152Ile
c.482G>Ap.Cys161Tyr
c.487C>Gp.Arg163Gly
c.487C>Tp.Arg163Trp
c.488G>Ap.Arg163Gln
c.491C>Ap.Thr164Lys
c.505+1G>T-- NM_014297​.3
c.554T>Gp.Leu185Arg NM_014297​.3
NP_055112​.2
c.586G>Ap.Asp196Asn
c.592dupC
(592_593insC) 2		p.His198fsProTer23
c.604dupG
(604_605insG) 2		p.Val202GlyfsTer19

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.

HGVS nomenclature: NG_008141​.1:g.4985_4989delCGCCC, as c.-83_79delCGCCC is not encompassed in the RefSeq NM_014297​.3.

2.

Originally reported with designation that does not conform to current naming conventions

From: Ethylmalonic Encephalopathy

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