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October 25, 2025

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!
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