The UMD-CSB mutations database
Intronic mutations

This function evaluates the potential pathogenic impact of intronic mutations.

Intronic mutations can interact with the splicing process either by disrupting a wild type donor or acceptor splice sits but also a branch point. In addition, it can result in the creation of a new (cryptic) site that can be used in place of the wt site. (Note that an intronic mutation can also interacts with regulatory sequences).
The consensus value (CV) of splice sites is calculated with the UMD algorithm. A value >70 is associated with a potentially functional site. When a mutation affects a site both the CV of the mutant sequence and the variation of the CV (in comparison to the wt) should be taken into account. Usually, a variation of 10% or more is associated with a splice recognition alteration (*).
A color code allows a rapid interpretation of CVs: Strong splice site; Medium splice site; weak splice site and not a splice site.

11 records found

Mutation Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
c.IVS3-1G>A (c.544-1G>A)
Acceptor
ttaccattcaagGA
82.2 _
ttaccattcaaaGA
53.3 _ *
-35.2 %
c.IVS4-2A>G (c.653-2A>G)
Acceptor
ttgttctttcagAG
91.3 _
ttgttctttcggAG
62.3 _ *
-31.7 %
c.IVS10-1G>A (c.2170-1G>A)
Acceptor
ctcttattaaagGT
84.3 _
ctcttattaaaaGT
55.3 _ *
-34.4 %
c.IVS11-2A>G (c.2287-2A>G)
Acceptor
tcccgtccgtagGT
84.1 _
tcccgtccgtggGT
55.2 _ *
-34.4 %
c.IVS13-26A>G (c.2599-26A>G)
Cryptic Acceptor?
TTTGCTTTGCAAACT
62.3 _
TTTGCTTTGCAGACT
91.2 _ *
31.7 %
c.IVS15-2A>G (c.2830-2A>G)
Acceptor
tctctgttgcagGC
91.6 _
tctctgttgcggGC
62.7 _ *
-31.6 %
c.IVS18+2T>G (c.3778+2T>G)
Donor
CAGgtaatc
85.5 _
CAGggaatc
58.7 _ *
-31.4 %
c.IVS20-1G>C (c.4063-1G>C)
Acceptor
ttctttttatagGA
88.6 _
ttctttttatacGA
59.7 _ *
-32.7 %