Junctional EB Col17a1 Mutations

Junctional EB Col17a1 Mutations 

c. R1814_G1815del_ins (framshift)

c. 10A>G  (missense) 

c. 1139C>T (missense) 

c. 1339G>T (missense) 

c. 1834G>A (missense) 

c. 2444C>T (missense) 

c. 2566C>T (missense) 

c. 3908G>A (missense) 

c. 1271G>T (nonsense) 

c. 2356C>T (nonsense) 

c. 2407G>T (nonsense) 

c. 2564T>G (nonsense) 

c. 3505C>T (nonsense) 

c. 3676C>T (nonsense) 

c. 3781C>T (nonsense) 

c. 796T>G (nonsense) 

c. 2383C>T (nonsense) 

c. 1284delA (PTC) 

c. 1365delC (PTC) 

c. 1706delA (PTC) 

c. 2342delG (PTC) 

c. 3000_3008del (PTC) 

c. 3236delC (PTC) 

c. 3432delT (PTC) 

c. 4144del4 (PTC) 

c. 4425delT (PTC) 

c. 399delA (PTC) 

c. 1221+4A>G (splice) 

c. 1744-2A>C (splice) 

c. 1877-2A>C (splice) 

c. 2003-1G>C (splice) 

c. 202+6T>G (splice) 

c. 3071-5G>A (splice) 

c. 3418+2delT (splice) 

c. 3766+5G>A (splice) 

c. 4156+1G>A (splice) 

c. 4424_5insC (splice) 

c. 8305-1G>A (splice) 

c. IVS51+1G>A (splice) 

c. 3198C>T (synonymous)

PTC- Premature Termination Codon

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!