Table 6. [Notable GNE Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_001128227.2 NP_001121699.1	c.131G>C	p.Cys44Ser	Pathogenic variant reported in Japanese, Chinese & Korean individuals [Cho et al 2014, Zhao et al 2015, Chen et al 2019, Park et al 2019] (~50 reported cases as of Feb 2020)
c.620A>T	p.Asp207Val	Founder pathogenic variant common in Japanese individuals [Nishino et al 2002, Cho et al 2014, Zhu et al 2017] (~230 reported cases as of Feb 2020)
c.830G>A	p.Arg277Gln	Pathogenic variant worldwide [Eisenberg et al 2001, Broccolini et al 2004, Celeste et al 2014, Chaouch et al 2014, Cho et al 2014, Cerino et al 2015, Bhattacharya et al 2018, Chen et al 2019] (~30 reported cases as of Feb 2020)
c.1225G>T	p.Asp409Tyr	Identified in persons originating from northern Europe, Ireland, & Northern Britain [Celeste et al 2014, Chaouch et al 2014, Cerino et al 2015] (~30 reported cases as of Feb 2020)
c.1664C>T	p.Ala555Val	Pathogenic variant worldwide [Celeste et al 2014, Cho et al 2014, Cerino et al 2015, Zhao et al 2015, Khadilkar et al 2017, Chen et al 2019, Park et al 2019] (~25 reported cases as of Feb 2020)
c.1807G>C	p.Val603Leu	Founder variant that accounts for frequent disease alleles in Japanese population [Arai et al 2002, Nishino et al 2002, Cho et al 2014, Zhu et al 2017] (~300 reported cases as of Feb 2020)
c.1853T>C	p.Ile618Thr	Founder variant in Roma & Indian (Rajasthan) populations [Chamova et al 2015, Khadilkar et al 2017] (~70 reported case as of Feb 2020)
c.1985C>T	p.Ala662Val	Pathogenic variant worldwide [Celeste et al 2014, Chaouch et al 2014, Cho et al 2014, Cerino et al 2015] (~50 reported cases as of Feb 2020)
c.2179G>A	p.Val727Met	Founder variant in Indian population [Eisenberg et al 2001, Bhattacharya et al 2018] (~80 reported cases as of Feb 2020)
c.2228T>C	p.Met743Thr	Founder variant in Middle Eastern population [Eisenberg et al 2001, Argov et al [2003] (~200 reported cases as of Feb 2020)

Reference
Sequences

DNA
Nucleotide
Change

Predicted
Protein
Change

Comment [Reference]

c.131G>C

p.Cys44Ser

Pathogenic variant reported in Japanese, Chinese & Korean individuals [Cho et al 2014, Zhao et al 2015, Chen et al 2019, Park et al 2019] (~50 reported cases as of Feb 2020)

c.620A>T

p.Asp207Val

Founder pathogenic variant common in Japanese individuals [Nishino et al 2002, Cho et al 2014, Zhu et al 2017] (~230 reported cases as of Feb 2020)

c.830G>A

p.Arg277Gln

Pathogenic variant worldwide [Eisenberg et al 2001, Broccolini et al 2004, Celeste et al 2014, Chaouch et al 2014, Cho et al 2014, Cerino et al 2015, Bhattacharya et al 2018, Chen et al 2019] (~30 reported cases as of Feb 2020)

c.1225G>T

p.Asp409Tyr

Identified in persons originating from northern Europe, Ireland, & Northern Britain [Celeste et al 2014, Chaouch et al 2014, Cerino et al 2015] (~30 reported cases as of Feb 2020)

c.1664C>T

p.Ala555Val

Pathogenic variant worldwide [Celeste et al 2014, Cho et al 2014, Cerino et al 2015, Zhao et al 2015, Khadilkar et al 2017, Chen et al 2019, Park et al 2019] (~25 reported cases as of Feb 2020)

c.1807G>C

p.Val603Leu

Founder variant that accounts for frequent disease alleles in Japanese population [Arai et al 2002, Nishino et al 2002, Cho et al 2014, Zhu et al 2017] (~300 reported cases as of Feb 2020)

c.1853T>C

p.Ile618Thr

Founder variant in Roma & Indian (Rajasthan) populations [Chamova et al 2015, Khadilkar et al 2017] (~70 reported case as of Feb 2020)

c.1985C>T

p.Ala662Val

Pathogenic variant worldwide [Celeste et al 2014, Chaouch et al 2014, Cho et al 2014, Cerino et al 2015] (~50 reported cases as of Feb 2020)

c.2179G>A

p.Val727Met

Founder variant in Indian population [Eisenberg et al 2001, Bhattacharya et al 2018] (~80 reported cases as of Feb 2020)

c.2228T>C

p.Met743Thr

Founder variant in Middle Eastern population [Eisenberg et al 2001, Argov et al [2003] (~200 reported cases as of Feb 2020)

From: GNE Myopathy

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