Nonsense point mutations

The following table provides an overview of currently known point mutations leading to premature stop.

NameCaseMutation (OldNC) [1]ExonBaseCodonMutation (HGVS) [2]ResultSource
NLLNDT > A28428c.84T>ATyr > stopnew
JALNDC > T315151c.151C>TArg > stopnew
53/00, 54/00, Family 26LNDC > T315151c.151C>TArg > stop(Bertelli et al., 2004; de Gemmis et al., 2010)
754-4, DDLNDC > T315151c.151C>TArg > stop(Tarle et al., 1991)
ASLNDC > T315151c.151C>TArg > stop(Sege-Peterson et al., 1992)
Estrie, LN-NLNDC > T315151c.151C>TArg > stop(O'Neill and Finette, 1998)
Fujimi, THLNDC > T315151c.151C>TArg > stop(Fujimori et al., 1990; Fujimori et al., 1991; Fujimori et al., 1994)
Kanagawa, KFLNDC > T315151c.151C>TArg > stop(Fujimori et al., 1994)
LN-E, CDSLNDC > T315151c.151C>TArg > stop(Jinnah et al., 2000)
MS, LN40-2LNDC > T315151c.151C>TArg > stop(Sege-Peterson et al., 1992)
NSLNDC > T315151c.151C>TArg > stop(Yamada et al., 1996)
NSLNDC > T315151c.151C>TArg > stop(Yamada et al., 2011a)
NSLNDC > T315151c.151C>TArg > stop(Yamada et al., 2011a)
NSLNDC > T315151c.151C>TArg > stop(Yamada et al., 2011a)
NSLNDC > T315151c.151C>TArg > stop(Yamada et al., 2011a)
Sagamie, LN-OLNDC > T315151c.151C>TArg > stop(O'Neill and Finette, 1998)
SheffordNAC > T315151c.151C>TArg > stop(Boyd et al., 1993; Davidson et al., 1991)
TB, LN68LNDC > T315151c.151C>TArg > stop(Jinnah et al., 2000)
LN131, AJ LNDC > T315151c.151C>TArg > stopnew
LN208LNDC > T315151c.151C>TArg > stopnew
SBLNDC > T315151c.151C>TArg > stopnew
S-family,WSLNDC > T4325109c.325C>TGln > stop(De Gregorio et al., 2000a)
RJK 1930LNDC > T4325109c.325C>TGln > stop(Gibbs et al., 1990)
NSLNDC > T4325109c.325C>TGln > stop(Yamada et al., 2011a)
PWLNDC > G4368123c.368C>GSer > stop(Sege-Peterson et al., 1992)
NALNDC > T6430144c.430C>TGln > stop(Yamada et al., 2008)
OS;MSLNDC > T6430144c.430C>TGln > stopnew
JFLNDC > T6454152c.454C>TGln > stopnew
1321, LN11D, JGLNDC > T7508170c.508C>TArg > stop(Tarle et al., 1991)
5/00, Family 27LNDC > T7508170c.508C>TArg > stop(Bertelli et al., 2004; de Gemmis et al., 2010)
LN48, AJLNDC > T7508170c.508C>TArg > stop(Jinnah et al., 2000)
AlmodovarLNDC > T7508170c.508C>TArg > stop(Puig et al., 2001; Torres et al., 2000)
BLNDC > T7508170c.508C>TArg > stop(Gathof et al., 1998)
Family IXLNDC > T7508170c.508C>TArg > stop(Jurecka et al., 2008; Popowska et al., 1998)
Family XLNDC > T7508170c.508C>TArg > stop(Jurecka et al., 2008; Popowska et al., 1998)
GSHNDC > T7508170c.508C>TArg > stop(Burgemeister et al., 1994)
LN40-5, JCLNDC > T7508170c.508C>TArg > stop(Jinnah et al., 2000)
JG-810/MG-811LNDC > T7508170c.508C>TArg > stop(Tvrdik et al., 1998)
NBLNDC > T7508170c.508C>TArg > stop(Marcus et al., 1992)
North MymmsLNDC > T7508170c.508C>TArg > stop(Boyd et al., 1993; Davidson et al., 1991)
RJK 974LNDC > T7508170c.508C>TArg > stop(Gibbs et al., 1989)
LN148, SC LNDC > T7508170c.508C>TArg > stopnew
LN150, DPLNDC > T7508170c.508C>TArg > stopnew
LN169, LSZ LNDC > T7508170c.508C>TArg > stopnew
LN171, KM LNDC > T7508170c.508C>TArg > stopnew
TF;LSLNDC > T7508170c.508C>TArg > stopnew
VVLNDC > T7508170c.508C>TArg > stopnew
65-05LNDT >A9618206c.618T>ACys > stop(Corrigan et al., 2011)
KB, LN138LNDG > T9634212c.634G>TGly > stop(Jinnah et al., 2000)

Notes:
[1] OldNC designates an old nomenclature for mutations.
[2] HGVS designates human genome variation society. See website: http://www.hgvs.org.