Table 3. [Childhood Ataxia with Central Nervous...]. - GeneReviews®

Gene ¹	Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
EIF2B2	NM_014239.3 NP_055054.1	c.638A>G	p.Glu213Gly	Dutch founder variant, associated w/relatively mild disease [Leegwater et al 2001]
EIF2B3	NM_020365.4 NP_065098.1	c.260C>T	p.Ala87Val	French-Canadian (non-Cree) founder variant [Robinson et al 2014]
c.1037T>C	p.Ile346Thr	Chinese founder variant [Zhang et al 2015]
EIF2B5	NM_003907.2 NP_003898.2	c.271A>G	p.Thr91Ala	Dutch founder variant, associated w/relatively mild disease [Leegwater et al 2001]
c.337C>T	p.Arg113His	Most common pathogenic variant, associated w/relatively mild disease [Leegwater et al 2001]
c.584G>A	p.Arg195His	Cree founder variant, associated w/severe disease [Fogli et al 2002]
c.925G>C	p.Val309Leu	Variant associated w/severe disease Fogli et al 2004a]
c.1015C>T	p.Arg339Trp	All reported variants at this position are associated w/severe disease [van der Lei et al 2010].
c.1016G>A	p.Arg339Gln
c.1016G>C	p.Arg339Pro

Gene ¹

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment [Reference]

EIF2B2

NM_014239.3

NP_055054.1

c.638A>G

p.Glu213Gly

Dutch founder variant, associated w/relatively mild disease [Leegwater et al 2001]

EIF2B3

NM_020365.4
NP_065098.1

c.260C>T

p.Ala87Val

French-Canadian (non-Cree) founder variant [Robinson et al 2014]

c.1037T>C

p.Ile346Thr

Chinese founder variant [Zhang et al 2015]

EIF2B5

NM_003907.2

NP_003898.2

c.271A>G

p.Thr91Ala

Dutch founder variant, associated w/relatively mild disease [Leegwater et al 2001]

c.337C>T

p.Arg113His

Most common pathogenic variant, associated w/relatively mild disease [Leegwater et al 2001]

c.584G>A

p.Arg195His

Cree founder variant, associated w/severe disease [Fogli et al 2002]

c.925G>C

p.Val309Leu

Variant associated w/severe disease Fogli et al 2004a]

c.1015C>T

p.Arg339Trp

All reported variants at this position are associated w/severe disease [van der Lei et al 2010].

c.1016G>A

p.Arg339Gln

c.1016G>C

p.Arg339Pro

From: Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.