SEARCH TIPS
- Search is case insensitive.
- Search term can consist of a whole word or part of a word e.g.
- Searching for "551" in the Protein Name field will retrieve all mutations that alter the protein at position 551.
- Searching for "del" in Mutation Names will retrieve all deletion mutations (but it may take awhile).
|
cDNA Name
|
Protein Name
|
Legacy Name
|
Region
|
Description
|
Consequence
|
|
c.1521_1523delCTT
|
p.Phe508del
|
[delta]F508
|
exon 11
|
deletion of 3 bp between 1652 and 1655
|
deletion of Phe at 508
|
|
c.1523T>G
|
p.Phe508Cys
|
F508C
|
exon 11
|
T to G at 1655
|
Phe to Cys at 508
|
|
c.1523T>C
|
p.Phe508Ser
|
F508S
|
exon 11
|
T to C at 1655
|
Phe to Ser at 508
|
|
|