The following table provides an overview of currently known point mutations leading to premature stop.
Name | Case | Mutation [1] | Exon | Base | Codon | Mutation [2] | Result | Source |
NL | LND | T>A | 2 | 84 | 28 | c.84T>A | Tyr>stop | new |
JA | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | new |
53/00, 54/00, Family 26 | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Bertelli et al., 2004; de Gemmis et al., 2010) |
754-4, DD | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Tarle et al., 1991) |
AS | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Sege-Peterson et al., 1992) |
Estrie, LN-N | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (O'Neill and Finette, 1998) |
Fujimi, TH | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Fujimori et al., 1990; Fujimori et al., 1991; Fujimori et al., 1994) |
Kanagawa, KF | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Fujimori et al., 1994) |
LN-E, CDS | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Jinnah et al., 2000) |
MS, LN40-2 | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Sege-Peterson et al., 1992) |
NS | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Yamada et al., 1996) |
NS | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Yamada et al., 2011a) |
NS | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Yamada et al., 2011a) |
NS | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Yamada et al., 2011a) |
NS | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Yamada et al., 2011a) |
Sagamie, LN-O | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (O'Neill and Finette, 1998) |
Shefford | NA | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Boyd et al., 1993; Davidson et al., 1991) |
TB, LN68 | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | (Jinnah et al., 2000) |
LN131, AJ | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | new |
LN208 | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | new |
SB | LND | C>T | 3 | 151 | 51 | c.151C>T | Arg>stop | new |
S-family,WS | LND | C>T | 4 | 325 | 109 | c.325C>T | Gln>stop | (De Gregorio et al., 2000a) |
RJK 1930 | LND | C>T | 4 | 325 | 109 | c.325C>T | Gln>stop | (Gibbs et al., 1990) |
NS | LND | C>T | 4 | 325 | 109 | c.325C>T | Gln>stop | (Yamada et al., 2011a) |
PW | LND | C>G | 4 | 368 | 123 | c.368C>G | Ser>stop | (Sege-Peterson et al., 1992) |
NA | LND | C>T | 6 | 430 | 144 | c.430C>T | Gln>stop | (Yamada et al., 2008) |
OS;MS | LND | C>T | 6 | 430 | 144 | c.430C>T | Gln>stop | new |
JF | LND | C>T | 6 | 454 | 152 | c.454C>T | Gln>stop | new |
1321, LN11D, JG | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Tarle et al., 1991) |
5/00, Family 27 | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Bertelli et al., 2004; de Gemmis et al., 2010) |
LN48, AJ | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Jinnah et al., 2000) |
Almodovar | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Puig et al., 2001; Torres et al., 2000) |
B | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Gathof et al., 1998) |
Family IX | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Jurecka et al., 2008; Popowska et al., 1998) |
Family X | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Jurecka et al., 2008; Popowska et al., 1998) |
GS | HND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Burgemeister et al., 1994) |
LN40-5, JC | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Jinnah et al., 2000) |
JG-810/MG-811 | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Tvrdik et al., 1998) |
NB | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Marcus et al., 1992) |
North Mymms | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Boyd et al., 1993; Davidson et al., 1991) |
RJK 974 | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | (Gibbs et al., 1989) |
LN148, SC | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | new |
LN150, DP | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | new |
LN169, LSZ | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | new |
LN171, KM | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | new |
TF;LS | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | new |
VV | LND | C>T | 7 | 508 | 170 | c.508C>T | Arg>stop | new |
65-05 | LND | T >A | 9 | 618 | 206 | c.618T>A | Cys>stop | (Corrigan et al., 2011) |
KB, LN138 | LND | G>T | 9 | 634 | 212 | c.634G>T | Gly>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.