PLEC Mutations associated with Epidermolysis Bullosa

 

Protein	DNA	Type of Mutation	Subtype of EB
	c. 12633ins	insertion	EBS-MD
p. Ala1968ArgfsX87	c. 5902delG	PTC	EBS-MD
p. Ala2025ProfzX19	c. 6067delG	PTC	EBS-MD
p. Ala510_1511ins12	c. 1530_1531Ins 36	PTC	EBS-MD
p. Arg1551Cys	c. 4651C>T	nonsense
p. Arg1560Gln	c. 4679G>A	missense
p. Arg1777Trp	c. 5329C>T	missense
p. Arg2319Ter	c. 6955C>T	nonsense	EBS-MD
p. Arg2421Ter	c. 7261C>T	nonsense
p. Arg2429Ter	c. 7285C>T	nonsense	EBS-MD
p. Arg2594Trp	c. 7780C>T	missense
p. Arg3029Ter	c. 9085C>T	nonsense
p. Arg323Gln	c. 986G>A	missense
p. Arg3375Gln	c. 10124G>A	missense
p. Arg3617His	c. 18501G>A	missense
p. Arg3754His	c. 11261G>A	missense
p. Arg545Ter	c. 1633C>T	nonsense
p. Arg824del	c. 2471_2473delGC	PTC	EBS-MD
p. Gln1518Ter	c. 4552C>T	nonsense	EBS-MD
p. Gln1529Ter	c. 4585C>T	nonsense	EBS-MD
p. Gln1757Ter	c. 5269C>T	nonsense	EBS-MD
p. Gln1936Ter	c. 5725C>T	nonsense	EBS-MD
p. Gln2208Ter	c. 6622C>T	nonsense	EBS-MD
p. Gln2331Ter	c. 6991C>T	nonsense	EBS-MD
p. Gln2382Ter	c. 7144C>T	nonsense	EBS-MD
p. Gln2529=	p. 7587G>A	synonymous	EBS-MD
p. Gln2538Ter	c. 7612C>T	nonsense	EBS-MD
p. Gln2567Ter	c. 7699C>T	nonsense	EBS-MD
p. Gln305Ter	c. 913C>T	nonsense	EBS-MD
p. Gln3464Ter	c. 7390C>T	nonsense	EBS-MD
p. Gln3525Ter	c. 10573C>T	nonsense	EBS-MD
p. Gln371Arg	c. 1112A>G	missense	EBS-MD
p. Glu1432fs	c. 4294_4306del	PTC	EBS-MD
p. Glu2387Ter	c. 7159G>T	nonsense	EBS-MD
p. Glu3662Ter	c. 10984C>T	nonsense	EBS-MD
p. Glu3767ArgfsX21	c. 11298dup	PTC	EBS-MD
p. Gly2207Ter	c. 6619C>T	nonsense	EBS-MD
p. Leu319Pro	c. 956T>C	missense	EBS-MD
p. Leu4189Pro	c. 12566T>C	missense	EBS-MD
p. Leu544Alafs*3		PTC	EBS-MD
p. Lys505del	c. 1102_1109del	PTC	EBS-MD
p. Met448Ile	c. 1344G>A	missense	EBS-PA
p. Trp936Ter	c. 2807G>A	nonsense	EBS-MD
p. Tyr2857Cys	c. 8570A>G	missense	EBS-MD
p. Val4330Met	c. 12988G>A	missense	EBS-MD
p.Arg2000Trp	c. 5998C>T	missense	EBS-O
p.Leu1256Phe	c. 3766C>T	missense
	c. 10251del105ins21	Insertion	EBS-PA
	c. 1513_1515del	PTC
	c. 1563del4	PTC
	c. 1630InsG	Insertion
	c. 1675-1G>A	Splice
	c. 194-1G>C	Splice	EBS-MD
	c. 2676del14	PTC
	c. 2727del14	PTC
	c. 2769del21	PTC
	c. 2888dupT	PTC	EBS-PA
	c. 3342-2A>C	Splice	EBS-PA
	c. 3902_3903del	PTC	EBS-PA
	c. 4119_4120del	PTC	EBS-PA
	c. 8348delT	PTC

EBS-PA: EB simplex w/ pyloric atresia

EBS-MD: EB simplex with muscular dystrophy

EBS-O: EBS-Ogna

These are all the EB mutations I have come upon over the years. If you have mutations you'd like to add, please reach out!