DNA | Sybtype of EBS | Type of Mutation |
c. 528C>A | missense | |
c. 538G>A | EBS-GS; EBS-GI | missense |
c. 538G>C | EBS-GS | missense |
c. 1249G>C | EBS-GS | nonsense |
c. 1283C>A | EBS-Loc | missense |
c. 1282G>A | EBS-Loc | missense |
c. 1283C>T | EBS-Loc | missense |
c. 1313C>A | EBS-Loc | missense |
c. 160G>A | missense | |
c. 495G>A | EBS-GS | missense |
c. 514A>T | missense | |
c. 794G>C | EBS-GS | missense |
c. 973C>T | EBS-Loc | missense |
c. 991C>T | EBS-GS | missense |
c. 991C>A | EBS-GS | missense |
c. 1054C>T | EBS-Loc | missense |
c. 1190G>T | EBS-GI | missense |
c. 1411C>A | missense | |
c. 1412G>A | EBS-Loc | missense |
c. 1438A>G | EBS-Loc | missense |
c. 1438A>T | nonsense | |
c. 1675C>T | nonsense | |
c. 436A>T | missense | |
c. 527A>G | EBS-GS | missense |
c. 531_533del | EBS-GS | Framshift/PTC |
c. 530A>G | EBS-Loc | missense |
c. 529A>T | missense | |
c. 579C>G | EBS-Loc | missense |
c. 579C>A | EBS-Loc/EBS-GI | missense |
c. 987C>A | EBS-Loc | missense |
c. 986G>A | EBS-Loc | missense |
c. 472G>A | missense | |
c. 473A>T | missense | |
c. 984C>A | EBS-Loc | missense |
c. 982G>C | EBS-Loc | missense |
c. 983A>T | EBS-Loc | missense |
c. 1072G>T | EBS-Loc | missense |
c. 405C>A | nonsense | |
c. 831G>A | synonmous | |
c. 1435_1436_insA | nonsense | |
c. 1437C>A | EBS-GS | nonsense |
c. 572A>C | EBS-GI | missense |
c. 1330C>T | EBS-GI | PTC |
c. 383A>G | EBS-GS | missense |
c. 499G>A | EBS-Loc | missense |
c. 504G>C | EBS-GI | missense |
c. 503A>C | EBS-GS | missense |
c. 508G>A | EBS-Loc | missense |
c. 513G>A | EBS-Loc | synonmous |
c. 503A>G | EBS-GS | missense |
c. 570G>C | EBS-Loc | missense |
c. 568G>A | missense | |
c. 1252G>A | EBS-Loc | Missense |
c. 1362del14 | EBS-Loc | Framshift/PTC |
c. 1398G>C | EBS-GS | missense |
c. 1424A>G | EBS-GS | missense |
c. 1423G>A | EBS-GS | missense |
c. 1431G>C | EBS-GS | missense |
c. 1430A>G | EBS-Loc | missense |
c. 1429A>G | EBS-GS | missense |
c. 1432G>A | EBS-GS | missense |
c. 382G>C | EBS-Loc | missense |
c. 413G>A | EBS-MP | missense |
c. 509G>A | EBS-GS | missense |
c. G>A | EBS-GI | missense |
c. G>A | missense | |
c.1427G>A | EBS-Loc | missense |
c.1550G>A | missense | |
c.1649delG | EBS-MC | Framshift/PTC |
c. 275G>A | EBS-GI | missense |
c. 287G>A | EBS-MP | missense |
c. 482T>G | EBS-Loc | missense |
c. 514A>G | EBS-Loc | missense |
c. 549C>G | missense | |
c. 547A>T | EBS-loc | missense |
c. 548T>C | missense | |
c. 1398T>C | EBS-GS | EBS-GS |
c. 1399A>C | EBS-loc | missense |
c. 1401C>G | EBS-GS | missense |
c. 1399A>T | EBS-GS | missense |
c. 1400T>C | EBS-Loc | missense |
c. 446T>C | EBS-Loc | missense |
c. 499T>C | missense | |
c. 449T>C | missense | |
c. 464T>C | missense | |
c. 524T>C | EBS-GS | missense |
c. 523C>T | EBS-GS | missense |
c. 557T>C | EBS-Loc | missense |
c. 587T>C | missense | |
c. 606T>C | missense | |
c. 607C>A | missense | |
c. 608T>C | EBS-Loc | missense |
c. 932T>C | EBS-Loc | missense |
c. 974T>C | EBS-GI | missense |
c. 1382T>C | EBS-Loc | missense |
c. Leu463_Asp464del | framshift/PTC | |
c. 1388T>C | EBS-GI; EBS-GS | missense |
c.1417T>A | EBS-GS | missense |
c. 1421T>C | EBS-GS | missense |
c. 1438C>A | EBS-GS | missense |
c. 1636C>A | EBS-Loc | missense |
c. 519G>C | EBS-GI | missense |
c. 597G>C | missense | |
c. 596A>T | EBS-Loc | missense |
c. 1210A>G | EBS-Loc | Missense |
c. 1291A>G | Missense | |
c. 1329T>C | EBS-Loc | Missense |
c. 1414A>T | EBS-GI | nonsense |
c. 815T>C | EBS-GI | missense |
c. 908C>A | EBS-Loc | missense |
c. 908T>A | EBS-Loc | missense |
c. 980T>C | EBS-Loc | missense |
c. 536T>C | ES-GS | missense |
c. 545T>C | missense | |
c. 1731delT | nonsense | |
c. 1730T>A | missense | |
c. 289T>A | EBS-MP | missense |
c. 467C>T | EBS-Loc | missense |
c. 74C>T | EBS-MP | synonymous |
c. 541T>C | EBS-GS | missense |
c. 976T>C | missense | |
c. 431_436del | EBS-GS | Framshift/PTC |
c. 451A>C | EBS-Loc | missense |
c. 630T>C | EBS-GS | nonsense |
EBS-Loc | missense | |
c. 1405A>C | EBS-GS | Missense |
c. 961A>C | missense | |
EBS-GI | missense | |
c. 1409G>A | EBS-GS | Missense |
c. 1410C>G | EBS-GS | nonsense |
c. 817delG | Framshift/PTC | |
c. 428T>C | EBS-GS | missense |
c. 428T>A | EBS-GS | missense |
c. 427G>T | EBS-GS | missense |
c. 434T>A | EBS-GS | missense |
c. 556G>T | EBS-GI | missense |
c. 556G>A | EBS-GI | missense |
c. 967G>A | EBS-GI | missense |
c. 971C>T | missense | |
c. 971T>A | missense | |
c. 566G>T | missense | |
c. 556G>A | EBS-Loc | missense |
c. 1635delG | EBS-MC/MP | Framshift/PTC |
c. 183del | EBS-GI | Framshift/PTC |
c. 431_436del | EBS-GS | frameshift/PTC |
c. 449T>C | EBS-GI | |
c. 472_483del | EBS-GS | frameshift/PTC |
c. 511-513delCAG | frameshift/PTC | |
c. 515T>A | missense | |
c. 526A>G | EBS-GS | |
c. 534_536del | Framshift/PTC | |
c. 552_555delC | Framshift/PTC | |
c. 555+1G>A | EBS-GS | Splice |
c. 555+2T>A | EBS-GS | Splice |
c. 556-1G>T | splice | |
c. 556-2A>G | splice | |
c. IVS1-1G>C | EBS-GI | splice |
c. IVS1+G>A | EBS-GI | splice |
c.1409dupA | Framshift/PTC | |
c.1423G>T | EBS-GS | |
c.1429G>A | EBS-GS | |
c.1432G>C | EBS-Loc | |
c.1432G>T | EBS-Loc | |
c.1434A>C | EBS-GS | |
c.1627delinsAGTGGA | LOC | splice |
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!