Table 6. [IBMPFD: Notable Pathogenic Variants by Gene]. - GeneReviews®

Gene ¹	Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
HNRNPA1	NM_031157.3 NP_112420.1	c.941A>T	p.Asp314Val	Disease-assoc variants in homologous functional domains [Kim et al 2013]
HNRNPA2B1	NM_031243.2 NP_112533.1	c.929C>T	p.Pro310Val
VCP	NM_007126.4 NP_009057.1	c.277C>T	p.Arg93Cys	Recurrent pathogenic variants in the double ψ barrel
c.278G>A	p.Arg93His
c.283C>T	p.Arg95Cys
c.283C>G	p.Arg95Gly
c.463C>T/G/A	p.Arg155Cys/Gly/Ser	Recurrent pathogenic variants in the 4-stranded β barrel
c.464G>A/T/C	p.Arg155His/Leu/Pro ²
c.475C>T/G/A	p.Arg159Cys/Gly/Ser
c.476G>A	p.Arg159His
c.572G>A	p.Arg191Gln	Recurrent pathogenic variant in the flexible linker
c.695C>A	p.Ala232Glu	Abnormal proteins containing either p.Arg155Pro or p.Ala232Glu formed hexameric ring-shaped structures, exhibiting a ~3-fold ↑ in ATPase activity & ↑ sensitivity to heat-induced upregulation of ATPase activity [Halawani et al 2009].

Gene ¹

Reference
Sequences

DNA
Nucleotide
Change

Predicted Protein
Change

Comment [Reference]

HNRNPA1

NM_031157.3
NP_112420.1

c.941A>T

p.Asp314Val

Disease-assoc variants in homologous functional domains [Kim et al 2013]

HNRNPA2B1

NM_031243.2
NP_112533.1

c.929C>T

p.Pro310Val

VCP

NM_007126.4
NP_009057.1

c.277C>T

p.Arg93Cys

Recurrent pathogenic variants in the double ψ barrel

c.278G>A

p.Arg93His

c.283C>T

p.Arg95Cys

c.283C>G

p.Arg95Gly

c.463C>T/G/A

p.Arg155Cys/Gly/Ser

Recurrent pathogenic variants in the 4-stranded β barrel

c.464G>A/T/C

p.Arg155His/Leu/Pro ²

c.475C>T/G/A

p.Arg159Cys/Gly/Ser

c.476G>A

p.Arg159His

c.572G>A

p.Arg191Gln

Recurrent pathogenic variant in the flexible linker

c.695C>A

p.Ala232Glu

Abnormal proteins containing either p.Arg155Pro or p.Ala232Glu formed hexameric ring-shaped structures, exhibiting a ~3-fold ↑ in ATPase activity & ↑ sensitivity to heat-induced upregulation of ATPase activity [Halawani et al 2009].

From: Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

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