Table 12. [Epidermolysis Bullosa Simplex: Notable Pathogenic Variants by Gene]. - GeneReviews®

Gene ¹	Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
KRT5	NM_000424.4 NP_000415.2	c.74C>T	p.Pro25Leu	Accounts for 90%-95% of identified pathogenic variants in persons w/EBS w/mottled pigmentation [Moog et al 1999]
c.1649delG	p.Gly550AlafsTer77	Assoc w/EBS w/mottled pigmentation [Horiguchi et al 2005]
KRT14	NM_000526.5 NP_000517.3	c.356T>C	p.Met119Thr	Assoc w/EBS w/mottled pigmentation [Harel et al 2006]
c.368A>G	p.Asn123Ser	Account for ~70% of persons w/severe EBS [Stephens et al 1997, Pfendner et al 2005]
c.373C>T	p.Arg125Cys
c.374G>A	p.Arg125His
NG_008624.1	c.1117_1158dup42		Assoc w/EBS w/mottled pigmentation [Arin et al 2010]
PLEC	NM_000445.5 NP_000436.2	c.5998C>T	p.Arg2000Trp	Assoc w/AD EBS, intermediate w/PLEC pathogenic variants (previously called EBS-Ogna) [Koss-Harnes et al 2002, Kiritsi et al 2013]

Gene ¹

Reference Sequences

DNA Nucleotide
Change

Predicted
Protein Change

Comment [Reference]

KRT5

NM_000424.4
NP_000415.2

c.74C>T

p.Pro25Leu

Accounts for 90%-95% of identified pathogenic variants in persons w/EBS w/mottled pigmentation [Moog et al 1999]

c.1649delG

p.Gly550AlafsTer77

Assoc w/EBS w/mottled pigmentation [Horiguchi et al 2005]

KRT14

NM_000526.5
NP_000517.3

c.356T>C

p.Met119Thr

Assoc w/EBS w/mottled pigmentation [Harel et al 2006]

c.368A>G

p.Asn123Ser

Account for ~70% of persons w/severe EBS [Stephens et al 1997, Pfendner et al 2005]

c.373C>T

p.Arg125Cys

c.374G>A

p.Arg125His

NG_008624.1

c.1117_1158dup42

Assoc w/EBS w/mottled pigmentation [Arin et al 2010]

PLEC

NM_000445.5
NP_000436.2

c.5998C>T

p.Arg2000Trp

Assoc w/AD EBS, intermediate w/PLEC pathogenic variants (previously called EBS-Ogna) [Koss-Harnes et al 2002, Kiritsi et al 2013]

From: Epidermolysis Bullosa Simplex

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