Nonsense point mutations


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

NameCaseMutation [1]ExonBaseCodonMutation [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. NB: Omitted on small screens and mobile devices to increase readability.
[2] HGVS designates human genome variation society. See website: http://www.hgvs.org.



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