Keratin 14 EBS Mutations

 

DNA	Type of Mutation	Subtype of EBS
c. 313_314delGC	frameshift	EBS-R
c. 415G>C	missense
c. 1256T>G	missense	EBS-GI
c. 428C>T	missense	EBS-GI
c. 740C>A	missense	EBS-GI
c. 1237G>A	missense	EBS-GI
c. 1249G>C	missense	EBS-GS
c. 373C>A	missense	EBS-GS
c. 373C>T	missense	EBS-GS
c. 373C>G	missense	EBS-GS
c. 374G>A	missense	EBS-GS
c. 374G>T	missense	EBS-GS
c. 373C>A	missense	EBS-GI
c. 400C>T	missense	EBS-Loc
c. 442C>T	missense	EBS-Loc
c. 569T>C	missense	EBS-GS
c. 1094_1095delAC	PTC
c. 1162C>T	missense
c. 1162C>G	missense	EBS-Loc
c. 1163G>A	missense	EBS-Loc
c. 1163G>C	missense	EBS-Loc
c. 1246delC	PTC	EBS-GS
c. 369T>C	missense	EBS-GS
c. 369T>A	missense	EBS-GS
c. 368A>G	missense	EBS-GS
c. 419A>G	missense	EBS-Loc
c. 818A>G	missense	EBS-Loc
c. 1161_1165del	frameshift
c. 359A>G	missense
c. 359A>C	missense
c. 587G>A	nonsense
c. 1186C>T	nonsense	EBS-GS; EBS-GI
c. 431A>G	missense	EBS-R and WC
c. 508G>C	missense
c. 1123_1125del	inframe insertion	EBS-loc
c. 1141G>A	missense	EBS-GI
c. 1228C>T	nonsense	EBS-GS
c. 1231_1233del	inframe insertion	EBS-Loc
c. 1231G>A	missense	EBS-GS
p. Glu420Ter	nonsense	EBS-GS
c. 1264G>A	missense	EBS-Loc
c. 1429G>A	missense	EBS-GS
c. 1261G>A	missense	EBS-Loc
c. 200DelG	frameshift	EBS-R
c. 1130T>C	missense	EBS-Loc/EBS-GS
c. 427delC	frameshift	EBS-GI
c. 482T>G	missense	EBS-Loc
p. Ile172Val	missense	EBS-Loc
c. 547C>T	missense	EBS-GS
c. 92DelT	frameshift	EBS-R
c. 1130T>A	missense
c. 1235T>A	missense	EBS-GS
c. 1236C>G	missense
c. 1234A>T	missense
c. 1151_1180del	inframe insertion
c. 364C>T	missense	EBS-GS/K
c. 377T>A	missense	EBS-GS
c. 389T>C	missense	EBS-GS
c. 407T>A	missense	EBS-Loc
c. 407T>C	missense	EBS-Loc
c. 428T>C	missense	EBS-GS
c. 1151T>C	missense	EBS-GS/EBS-GI
c. 1202T>C	missense
c. 1222C>A	missense	EBS-Loc
p. Leu410Pro	missense	EBS-GS
c. 1253T>G	missense	EBS-Loc
c. 1253T>A	missense
c. 1252C>G	missense	EBS-GS
c. 1256T>A	missense	EBS-GS
c. 1256_1274+163del182insA	frameshift	EBS-GS
c. 348G>C	missense	EBS-GS
c. 346A>G	missense	EBS-GI
c. 346A>T	nonsense	EBS-R
c. 357G>A	missense	EBS-Loc
c. 356T>C	missense	EBS-GS
c. 355A>G	missense	EBS-GS
c. 524T>C	missense	EBS-GS
c. 815T>G	missense	EBS-Loc
c. 815T>C	missense	EBS-GI
c. 881T>C	missense
c. 1223T>A	missense	EBS-GS
c. 1117_1158dup	inframe insertion	EBS-MP
c. 383_385delCCT	frameshift	EBS-GS
c. 382T>C	missense	EBS-GS
c. 129DupC	frameshift	EBS-GI
c. 356C>T	missense	EBS-GS
c. 367T>G	missense	EBS-GS
c. 744delCinsAG	nonsense	EBS-GI
c. 915G>A	nonsense	EBS-GS; EBS-GI
c. 385T>A	missense	EBS-GS
c. 385T>G	missense	EBS-GS
c. 386A>G	missense	EBS-GI
c. 385T>C	missense	EBS-Loc
c. 612T>A	nonsense	EBS-R
c. 744delinsAG	missense	EBS-GI;GS
c. 1194delC	nonsense
c. 1244A>G	missense	EBS-Loc
c. 1243T>C	missense	EBS-GI/DM
c. 398T>C	missense	EBS-GI
c. 397G>T	missense	EBS-GS
c. 397G>A	missense	EBS-Loc
C. 803T>A	missense	EBS-Loc
c. 809T>C	missense	EBS-Loc
c. 803T>A	missense	EBS-GI
c. 1004_1011del8	PTC
c. 1137T>C	missense	EBS-Loc
c. 1241del18	PTC	EBS-GS
c. 1840C>A	missense	EBS-GS
c. 1842-2A-C	splice	EBS-R
c. 365T>C	missense	EBS-GS
c. 526-2A>C	splice	EBS-loc
c. 730_750del	frameshift	EBS-GS
c. 962_970delins	frameshift	EBS-MP
c. IVS1-1G>C	splice	EBS-GI
c. IVS1+1G>A	splice	EBS-GS
c.1144_1176dup	frameshift	EBS-MC
c. 1158_1159ins	frameshift	EBS-MP
c. 1240A>C	missense	EBS-GS
c. 1243T>G	missense	EBS-GS
c. 1244_1253del	frameshift	EBS-GI
c. 1250_1252dup	frameshift	EBS-Loc
c. Gln374_Leu387dup	frameshift	EBS-GS
c. Gly550AlafsX77	frameshift	EBS-MC
p. Ile140AsnfsX10	frameshift	EBS-Loc
c. IVS4+1G>A	splice	EBS-GI
c. Lys143fsX2	frameshift
c. Lys350ArgfsX8	frameshift	EBS-R

GS- generalized severe; GI- generalized Intermediate; Loc- localized; MC- Migratory circinate erythema; MP- Molted Pigmentation; R- Recessive EBS

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!