Splice error point mutations

namephenotypemutationresultremarksource
JLYHNDc.27+1G>Ainclusion of IVS1+1 to 49 in mRNA(Jinnah et al., 2010; Marcus et al., 1993a)
HHLNDc.27+1G>Anot reportednew
MM, Case 22-18HNDc.27+1G>Tinclusion of IVS1+1 to 49 in mRNA(Jinnah et al., 2010; Jinnah et al., 2000)
LN11B, LRLNDc.27+1G>Tinclusion of IVS1+1 to 49 in mRNA(Jinnah et al., 2000; Jinnah et al., 2006)
NSLNDc.27+1G>Tinclusion of IVS1+1 To 49 in mRNA(Yamada et al., 2004)
Family 3HNDc.27+5G>Ainclusion of extra sequences in mRNA plus frame shift(Yamada et al., 2007)
LN128, H6214, DCLNDc.27+5G>Asplice errornew
CSHRHc.27+47C>Tinclusion of extra sequences in mRNA(Gaigl et al., 2001)
NSLNDc.28-1G>Cexon 2 excluded(Yamada et al., 2004)
LN5, BNLNDc.28-2A>Gexon 2 excluded(Jinnah et al., 2000)
RJK 1760, CBLNDc.28-2A>Texon 2 excluded(Gibbs et al., 1990)
12/01, Family 28LNDc.134+1G>Cnot reported(Bertelli et al., 2004; de Gemmis et al., 2010)
JCHNDc.134+1G>Aexon 2 excluded(Jinnah et al., 2000)
THLNDc.135-1G>Anot reportednew
LN175LNDc.135-2A>Gexon 3 excludednew
LN35, COLNDc.209G>Texclusion of bases 208-318(Jinnah et al., 2000)
NSLNDc.318+1G>Cexon 3 excluded(Nguyen et al., 2011)
KeioLNDc.318+1G>Texon 3 excluded(Yamada et al., 1993)
LN132, JCLNDc.318+1G>Texon 3 excludednew
NSLNDc.319-1G>Texon 4 excluded(Yamada et al., 2004)
LN66, MDLNDc.319-2A>Gexon 4 excluded(Jinnah et al., 2000)
Family 34LNDc.319-2A>Gexon 4 exclusion(de Gemmis et al., 2010)
JR, RRLNDc.384+1G>Texon 4 excluded(Jinnah et al., 2000)
LN204, AJZLNDc.384+1G>Texon 4 excludednew
LN122, RLNDc.384+1G>Texon 4 excludednew
Case 9, Family 9LNDc.384+1G>Anot reported(Jinnah et al., 2006)
Case 2-2, PBHNDc.385-1G>Anot reported(Jinnah et al., 2010)
Family VLNDc.385-1G>Aexon 5 excluded(Jurecka et al., 2008; Popowska et al., 1998)
Patient 4LNDc.385-1G>Aexon 5 excluded(Mak et al., 2000)
BPLNDc.385-1G>Aexon 5 excludednew
Family 28LNDc.385-2A>Cexon 5 excluded(O'Neill, 2004)
IRdL, Case 13-10HNDc.385-2A>Gexon 5 excluded(Jinnah et al., 2010; Torres et al., 2010)
DBHNDc.402+1G>Aaberrant mRNA(Jinnah et al., 2000)
MPLNDc.402+1G>Asplice errornew
VPLNDc.402+5G>Asplice errornew
TLHRHc.402+1229A>Gmultiple mRNAs(Sege-Peterson et al., 1992)
Richelieu, LN-MLNDc.403-1G>Aexon 6 excluded, 403delG(Jinnah et al., 2000)
NALNDc.403-1G>Cnot reported(Hou, 2006)
LN174LNDc.403-1G>Cexon 5 excludednew
NSLNDc.403-2A>Gaberrant mRNA(Yamada et al., 2004)
NSLNDc.485+1G>Aexon 6 excluded(Willers et al., 1999)
Chermside, RWLNDc.485+1G>Aexon 6 excluded(Gordon et al., 1991)
Family 29LNDc.485+1G>Aexon 6 excluded(de Gemmis et al., 2010)
Patient ALNDc.485+1G>Cexon 6 excluded(Mizunuma et al., 2001)
Family of 5, Family 30LND/HNDc.485+2T>Cexon 6 excluded(de Gemmis et al., 2010; Hladnik et al., 2008)
100-00HNDc.485+5G>Aexon 6 excluded(Corrigan et al., 2011)
LN203B, JS; DSLNVc.485+5G>Aexon 6 excludednew
31-99LNDc.485+2775T>Acreat functional splice site that combines with a downstream cryptic splice site leading mRNA insertion(Corrigan et al., 2011)
AQLNDc.486-1G>Asplice errornew
LN126, BMLNDc.486-3C>Gexon 7 excludednew
DLLNDc.532+1G>Aexon 7 excluded Previously reported as case 375 (Tarle et al., 1991) with a different result.(Jinnah et al., 2000)
LN158, JCGLNDc.532+1G>Aexon 7 excludednew
LN217, TMLNDc.532+1G>Aexon 7 excludednew
NSLNDc.532+1G>Aexon 7 excluded(Yamada et al., 2011a; Yamada et al., 2011b)
PMK; WBKLNDc.532+2G>Texon 7 excludedNew
NSHNDc.532+2T>Cexon 7 excluded, early termination(Yamada et al., 2004)
RJK 1934LNDc.532+5G>Aexon 7 excluded(Gibbs et al., 1990)
LN67, MPLNDc.532+5G>Aexon 7 excluded(Jinnah et al., 2000)
LN157, JH, CHLNDc.532+5G>Aexon 7 excluded(Jinnah et al., 2006)
NSLNDc.532+5G>Aexon 7 excludedPrevious reported as c.532+>A. (Kim et al., 2009)
LN139B, H8475, HLNDc.532+5G>Aexon 7 excludednew
NSLNDc.532+5G>Texon 7 excludednew
NSLNDc.532+5G>Cexon 7 excluded(Willers et al., 1999)
3/00, Family 31LNDc.533-1G>Aexon 8 excluded(Bertelli et al., 2004; de Gemmis et al., 2010)
NSLNDc.533-1G>Aexon 8 excluded(Willers et al., 1999)
KDLNDc.533-1G>Asplice errornew
Sevilla, PPLNDc.533-2A>Gexon 8 excluded(Puig et al., 2001; Torres et al., 2000)
Family BLNDc.533-9T>Aexon 8 excluded(Kim et al., 1997)
NSLNDc.533-9T>Aexon 8 excluded(Yamada et al., 2004)
Patient BLNDc.533-9T>Gexon 8 excluded(Mizunuma et al., 2001)
BVLNDc.533-13T>Gexon 8 excludednew
NSLNDc.538G>Aexon 8 excluded (G180D))(Yamada et al., 2011a)
Case 10, Family 10LNDc.609+1G>Anot reported(Jinnah et al., 2006)
25-febLNDc.609+1G>Asplice junction(Corrigan et al., 2011)
RJK 888, GM 7092LNDc.609+5G>Aexon 8 excluded(Gibbs et al., 1990; Gibbs et al., 1989)
LN-I, PeruLNDc.609+5G>Texon 8 excluded(Jinnah et al., 2000)
LN29, JRLNDc.609+6T>Gexon 8 excluded(Jinnah et al., 2000)
LN172; LN203A (MB;LB)LNDc.609+6T>Gexon 8 excludednew
LN33LNDc.609+6T>Cexon 8 excluded(Jinnah et al., 2000)
NSLNDc.609+6T>Cexon 8 excluded(Willers et al., 1999)
NSLNDc.610-1G>A17 bp of exon 9 excluded(Yamada et al., 2004)
158/01, Family 33LNDc.610-1G>Anot reportedPrevious reported as IVS9-1G>A (Bertelli et al., 2004) and revised as c.610-1G>A (de Gemmis et al., 2010).(Bertelli et al., 2004; de Gemmis et al., 2010)
LN162, IILNDc.610-1G>A17 bp of exon 9 excludednew
FGLNDc.610-1G>Asplice errornew
17/00, Family 32LNDc.610-1G>Cnot reported(Bertelli et al., 2004; de Gemmis et al., 2010)
GDLNDc.610-1G>Tsplice errornew
RJK 906, GM 1899LNDc.610-2A>T17 bp of exon 9 excluded(Gibbs et al., 1990; Gibbs et al., 1989)
LN136,KBLNDc.610-2A>T610-626 bp of exon 9 excludednew
ASLNDc.610-2A>G17 bp of exon 9 excluded(Marcus et al., 1993a)