Patient 5 C20402AG Patient 8 C2302+5GA Patient 9 C2039+1GT

patient 5 c.2040-2ag patient 8 c.2302+5ga patient 9 c.2039+1gt patient 13 c.278+1ga nnsplice 09 - berkely droso

Patient 5
c.2040-2A>G
Patient 8
c.2302+5G>A
Patient 9
c.2039+1G>T
Patient 13
c.278+1G>A
NNsplice 09 - Berkely Drosophila Genome Project (BDGP) (www.fruitfly.org/seq_tools/splice.html);
Acceptor site broken
Donor site broken
Donor site broken
Donor site broken
NetGene 2 (NG2)
(www.cbs.dtu.dk/services/NetGene2/)
Acceptor site broken
Donor site broken
Donor site broken
Donor site broken
MaxEntScan (MES) (http://genes.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html)
Acceptor site broken
Score 8.47 to -3.20
Donor site broken
Score 6.58 to -3.67
Donor site broken
Score 8.35 to -0.15
Donor site broken Score 7.54 to -0.83
Human Splicing Finder version 2.4
(www.umd.be/HSF/)
Acceptor site broken
Score 77.09 to 48.14
Variation -37.55
Donor site broken
Score 74.29 to 45.34
Variation -38.97
Donor site broken
Score 85.49 to 58.66
Variation -31.39
Donor site broken
Score 82.27 to 55.43
Variation -32.62