Missense point mutations

The following table provides an overview of currently known point mutations leading to amino acid substitutions.

Name/CaseCaseMutation [1]ExonBaseCodonMutation [2]ResultSource
NS [3]HNDA > T111c.1A>TMet > LeuAlonso-Gonzalez et al., 2012
SZHNDT > C121c.2T>CMet > ThrGathof et al., 1996
1151, JRLNDG > A131c.3G>AMet > IleTarle et al., 1991
LN49, JTLNDG > A131c.3G>AMet > IleJinnah et al., 2000
GravesendHRHG > A1207c.20G>AGly > AspDavidson et al., 1991
HB, LN154HNDT > G1238c.23T>GVal > GlySege-Peterson et al., 1992
NSLNDT > G22910c.29T>GIle > SerYamada et al., 2008
LN8, GALNDT > A22910c.29T>AIle > AsnJinnah et al., 2000
NSLNDA > C23512c.35A>CAsp > AlaNguyen et al., 2011
Urangan, GLHNDG > A24616c.46G>AGly > SerSculley et al., 1991
42-05HRHG > C24616c.46G>CGly > AlaCorrigan et al., 2011
FGLNDG > A24716c.47G>AGly > AspSege-Peterson et al., 1992
44-07LNDG > T24716c.47G>TGly > ValCorrigan et al., 2011
CFLNDG > T24716c.47G>TGly > Valnew
Family 5 (LN107, KH)LNDA > G25017c.50A>GTyr > CysO'Neill, 2004
MashadLNVA > T25920c.59A>TAsp > ValDavidson et al., 1991
NSHRHA > T25920c.59A>TAsp > Valnew
188-10LNDT > G26522c.65T>GPhe > CysCorrigan et al., 2011
ACLNDT > G26522c.65T>GPhe > Cysnew
NSHRHG > T26823c.68G>TCys > PheHikita et al., 1998
JSHRHC > G26923c.69C>GCys > TrpSege-Peterson et al., 1992
YonagoHRHC > A27325c.73C>APro > ThrTohyama et al., 1994
15/00, Family 25LNDC > G27425c.74C>GPro > ArgBertelli et al., 2004; de Gemmis et al., 2010
NSLNDC > G27425c.74C>GPro > ArgYamada et al., 2011a
MDHNDG > C28529c.85G>CAla > Pronew
Chia-yi, Case 42-32HRHT > G29331c.93T>GAsp > GluJinnah et al., 2010; Wu et al., 2007
ASLNDT > C29532c.95T>CLeu > SerJinnah et al., 2000
LN72, CFLNDG > C29632c.96G>CLeu > PheJinnah et al., 2000
Family 15HRHC > T211238c.112C>TPro > Serde Gemmis et al., 2010
LN24, JJLNDC > T211338c.113C>TPro > LeuJinnah et al., 2000
APLNDC > G211539c.115C>GHis > AspJinnah et al., 2006
APHNDC > G211539c.115C>GHis > Aspnew
ACLNDG > A211840c.118G>AGly > Argnew
Huelva, LN-HLNDG > A211840c.118G>AGly > ArgPuig et al., 2001; Torres et al., 2000
Detroit, KMLNDT > C212241c.122T>CLeu > ProDavidson et al., 1989b
Isar, KMLNDA > T212442c.124A>TIle > PheBurgemeister et al., 1994
HeapyNAT > C212542c.125T>CIle > ThrDavidson et al., 1991
OALNDT > C212542c.125T>CIle > Thrnew
Santona, Case 25-20HNDT > C212542c.125T>CIle > ThrJinnah et al., 2010; Puig et al., 2001; Torres et al., 2000
NSLNDG > T213044c.130G>TAsp > TryYamada et al., 2011a
MGLNDG > C213044c.130G>CAsp > Hisnew
NSLNDA > T213144c.131A>TAsp > ValYamada et al., 2008
Family ILNDA > G213144c.131A>GAsp > GlyJurecka et al., 2008
NSLNDA > G213144c.131A>GAsp > GlyJinnah et al., 2006
NSLNDA > G213345c.133A>GArg > GlyNguyen et al., 2011
NSLNVG > A213445c.134G>AArg > LysWillers et al., 1999
RJK 2163, TDLNDG > A213445c.134G>AArg > LysGibbs et al., 1990
GLA 7292LNDG > A213445c.134G>AArg > LysBoyd et al., 1993
LN59, CCLNDG > A213445c.134G>AArg > LysJinnah et al., 2000
LN40-3, CCLNDA > T314047c.140A>TGlu > ValJinnah et al., 2000; Jinnah et al., 2006
LN11C, MC, MCLNDA > G314047c.140A>GGlu > GlyJinnah et al., 2000; Jinnah et al., 2006
71-05HRHC > T314248c.142C>TArg > CysCorrigan et al., 2011
AGHRHG > A314348c.143G>AArg > HisSege-Peterson et al., 1992
DD, Case 30-24HNDG > A314348c.143G>AArg > HisJinnah et al., 2010; Sege-Peterson et al., 1992
DoA, Case 6-6HNDG > A314348c.143G>AArg > HisJinnah et al., 2010
GH (case 23-14) and TH (case 18-14); LN207HNDG > A314348c.143G>AArg > HisJinnah et al., 2010
JB (case 36-16); LN134, VC (case 20-16); CZ (case 43-16); HNDG > A314348c.143G>AArg > HisJinnah et al., 2010; Larovere et al., 2007
Madrid II, Case 28-23HNDG > A314348c.143G>AArg > HisJinnah et al., 2010; Puig et al., 2001; Torres et al., 2000
Patient 21, Family 17HNDG > A314348c.143G>AArg > Hisde Gemmis et al., 2010
VDHRHG > A314348c.143G>AArg > HisJinnah et al., 2010
LAHNDG > A314348c.143G>AArg > HisJinnah et al., 2010
LN214, PG LNVG > A314348c.143G>AArg > HisSapag et al.
LAHNDG > A314348c.143G>AArg > Hisnew
ADHNDG > A314348c.143G>AArg > Hisnew
Family 16LNDC > T314549c.145C>TLeu > Phede Gemmis et al., 2010
LN159, DPLNDC > T314549c.145C>TLeu > Phenew
MBLNDT > G314649c.146T>GLeu > Argnew
CM;SMLNDG > A314850c.148G>AAla > Thrnew
LW, Case 34-28HNDG > C314850c.148G>CAla > ProJinnah et al., 2010; Sege-Peterson et al., 1992
1265, RSLNDC > T314950c.149C>TAla > ValTarle et al., 1991
49-08LNDC > A314950c.149C>AAla > AspCorrigan et al., 2011
Toronto, LPHRHC > G315151c.151C>GArg > GlyWilson et al., 1986; Wilson et al., 1983
TsouHRHG > A315251c.152G>AArg > GlnChang et al., 1999; Jinnah et al., 2010
BanburyNAG > C315251c.152G>CArg > ProBoyd et al., 1993; Davidson et al., 1991
TEHRHG > A315753c.157G>AVal > MetSege-Peterson et al., 1992
MGHRHT > C315853c.158T>CVal > AlaSege-Peterson et al., 1992
ML;ALLNDT > G315853c.158T>GVal > Glynew
Japan1LNDA > C316054c.160A>CMet > LeuIgarishi et al., 1989
MariborHRHA > G316957c.169A>GMet > ValGregoric et al., 2005
MontrealHNDT > C317057c.170T>CMet > ThrSkopek et al., 1990
Toowong, PHLNVG > A317358c.173G>AGly > ArgSculley et al., 1991
NSNormalA > G317960c.179A>GHis > ArgYamada et al., 2008
NSHRHA > G317960c.179A>GHis > Argnew
Case #2LNDG > C319064c.190G>CAla > ProYamada et al., 1992
NALNDG > C319064c.190G>CAla > ProYamada et al., 2011a
1/01, Family 18LNDC > A319164c.191C>AAla > AspBertelli et al., 2004; de Gemmis et al., 2010
GHLNDC > A319164c.191C>AAla > AspMarcus et al., 1993a
LN56, JWHNDC > T319365c.193C>TLeu > PheJinnah et al., 2010; Jinnah et al., 2000; Srivastava et al., 2002
CTLNDT > C319465c.194T>CLeu > ProJinnah et al., 2000
NSLNDT > C319465c.194T>CLeu > ProYamada et al., 2004
LN-JLNDT > C319666c.196T>CCys > ArgJinnah et al., 2000
YGHRHT > C320067c.200T>CVal > Alanew
BOLNDT > C320368c.203T>CLeu > ProJinnah et al., 2006
DiA, Case 9-5; HA, Case 29-5; NF,BF, Case 5-5;DD;SD;KYHNDT > C320368c.203T>CLeu > ProJinnah et al., 2010
LN121, BOLNDT > C320368c.203T>CLeu > ProLarovere et al., 2007
LN53, ECLNDT > G320368c.203T>GLeu > ArgJinnah et al., 2000
NSLNDG > A320870c.208G>AGly > ArgTohyama et al., 1994
UtrechtLNDG > A320870c.208G>AGly > ArgBouwens-Rombouts et al., 1993
M, 8/00, Family 19LNDG > T320870c.208G>TGly > TrpBertelli et al., 2004; de Gemmis et al., 2010; Gathof et al., 1996
ALLNDG > C320870c.208G>CGly > ArgJinnah et al., 2000
1510, JFLNDG > A320970c.209G>AGly > GluTarle et al., 1991
955-2, JPLNDG > A320970c.209G>AGly > GluTarle et al., 1991
JFS, LN120LNDG > A320970c.209G>AGly > GluJinnah et al., 2006
NALNDG > A320970c.209G>AGly > GluLarovere et al., 2007
New Haven, DGLNDG > A320970c.209G>AGly > GluDavidson et al., 1989b
NSLNDG > A320970c.209G>AGly > GluTohyama et al., 1994
NSLNDG > A320970c.209G>AGly > GluYamada et al., 2004
RTLNDG > A320970c.209G>AGly > Glunew
Yale, KTLNDG > C321171c.211G>CGly > ArgFujimori et al., 1989a, b
106/01, Family 20LNDG > A321271c.212G>AGly > AspBertelli et al., 2004; de Gemmis et al., 2010
DW, SWLNDG > T321271c.212G>TGly > ValJinnah et al., 2000
NSHNDG > T321271c.212G>TGly > ValWillers et al., 1999
Madrid I, Case 16-12HNDG > T321271c.212G>TGly > ValBouwens-Rombouts et al., 1993; Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000
NSHNDG > T321271c.212G>TGly > ValYamada et al., 2011a
Tachikawa, HKHRHA > G321572c.215A>GTyr > CysFujimori et al., 1994
SeoulHRHA > G321572c.215A>GTyr > CysChoi et al., 1993; Kim et al., 1997
Case II.1, II.4HRHA > G321572c.215A>GTyr > CysSebesta et al., 2008
NSHRHA > G321572c.215A>GTyr > CysYamada et al., 2011a; Yamada et al., 2004
Family IILNDT > G322074c.220T>GPhe > ValJurecka et al., 2008
LN139F, OLNDT > G322074c.220T>GPhe > Valnew
LN58, SJLNDT > G322174c.221T>GPhe > CysJinnah et al., 2000
DWLNDC > A322274c.222C>APhe > LeuSege-Peterson et al., 1992
Family IIILNDC > A322274c.222C>APhe > LeuJurecka et al., 2008; Popowska et al., 1998
Perth, BBLNDC > A322274c.222C>APhe > LeuSculley et al., 1991
Flint, RJK 892, ACLNDC > A322274c.222C>APhe > LeuDavidson et al., 1988b; Gibbs et al., 1989
1522, GHLNDC > A322274c.222C>APhe > LeuTarle et al., 1991
NSLNDC > A322274c.222C>APhe > LeuYamada et al., 2011a
TaichungLNDC > G322274c.222C>GPhe > LeuLee et al., 1995; Mak et al., 2000
Swan, DWLNVC > G323278c.232C>GLeu > ValSculley et al., 1991
Case #3LNDT > A323378c.233T>ALeu > GlnYamada et al., 1992
Arlington, MS, WBHNDA > T323980c.239A>TAsp > ValDavidson et al., 1989b; Jinnah et al., 2010
NSHRHA > G329398c.293A>GAsp > GlyWong et al., 2008
LN139C, H4755, BLNDA > G329398c.293A>GAsp > Glynew
RumaniaHNDT > G329599c.295T>GPhe > Valnew
Family IVHNDT > G329599c.295T>GPhe > ValJurecka et al., 2008
Munich, IVHRHA > G3310104c.310A>GSer > ArgWilson et al., 1986; Wilson et al., 1983
DBHRHC > T4329110c.329C>TSer > LeuWilson et al., 1986
London, GSHRHC > T4329110c.329C>TSer > LeuWilson et al., 1986; Wilson et al., 1983
Family 1HRHA > C4370124c.370A>CThr > ProYamada et al., 2007
DWHNDC > G4371124c.371C>GThr > SerJinnah et al., 2000
MCHRHT > C4374125c.374T>CLeu > Sernew
TPLNDG > T4379127c.379G>TGly > Valnew
375 [4]LNDT > A5389130c.389T>AVal > AspTarle et al., 1991
Midland, RJK 896, JHLNDT > A5389130c.389T>AVal > AspDavidson et al., 1988a; Gibbs et al., 1989
RJK 1784LNDT > C5392131c.392T>CLeu > SerGibbs et al., 1989
EGLNDT > G5392131c.392T>GLeu > Trpnew
LN-C, LN30, SMLNDT > G5395132c.395T>GIle > SerJinnah et al., 2000
RuncornNAT > C5395132c.395T>CIle > ThrDavidson et al., 1991
Ann Arbor, KC, TCHRHT > G5396132c.396T>GIle > MetFujimori et al., 1988; Wilson et al., 1986
Zaragoza IHRHG > A5397133c.397G>AVal > MetJinnah et al., 2010; Puig et al., 2001; Torres et al., 2000
NSHRHA > T6404135c.404A>TAsp > ValWillers et al., 1999
Yeronga, SBLNVA > G6404135c.404A>GAsp > GlySculley et al., 1992
PAHRHA > G6404135c.404A>GAsp > Glynew
JGLNDT > A6407136c.407T>AIle > LysJinnah et al., 2000
Marseille,BC;FC;NC;WC;LCHRHT > C6407136c.407T>CIle > ThrDussol et al., 2004; Jinnah et al., 2010
JerusalemHNDT > C6410137c.410T>CIle > ThrZoref-Shani et al., 2003, 2004
NSLNDA > C6415139c.415A>CThr > ProYamada et al., 2008; Yamada et al., 2011a
2027124, Family 21LNDG > C6418140c.418G>CGly > ArgBertelli et al., 2004; de Gemmis et al., 2010
Tokyo, YYLNDG > A6419140c.419G>AGly > AspFujimori et al., 1992; Fujimori et al., 1991; Fujimori et al., 1994
Family 32 (LN111, BM)LNDG > A6419140c.419G>AGly > AspO'Neill, 2004
Potenza, LCNAC > T6439147c.439C>TLeu > PheMicheli et al., 2002
NSHNDT > C6440147c.440T>CLeu > ProYamada et al., 2004
Family 22HNDT > C6440147c.440T>CLeu > Prode Gemmis et al., 2010
NSHNDT > G6449150c.449T>GVal > GlyChiong et al., 2006
Sardinia, Case 33-27HNDC > T6463155c.463C>TPro > SerCossu et al., 2002; Cossu et al., 2006; Jinnah et al., 2010
Niigata, DSHRHG > T6472158c.472G>TVal > PheFujimori et al., 1994
NAHRHG > T6472158c.472G>TVal > PheYamada et al., 2011a
47-07LNDT > G6473158c.473T>GVal > GlyCorrigan et al., 2011
NSHNDA > G6475159c.475A>GLys > GluYamada et al., 2004
NGHNDA > G6475159c.475A>GLys > Glunew
LN167, RTLNDA > C6476159c.476A>CLys > Thrnew
Family VII (patient 9; 10)LNVG > A6481161c.481G>AAla > ThrJurecka et al., 2008; Popowska et al., 1998
Milwaukee, RJK 949, JMHRHG > T6481161c.481G>TAla > SerDavidson et al., 1989b; Gibbs et al., 1989
Family VIIILNDC > A6482161c.482C>AAla > GluJurecka et al., 2008; Popowska et al., 1998
LN3, CJWLNDC > A6482161c.482C>AAla > GluJinnah et al., 2000
09-00LNDA > C7484162c.484A>CSer > ArgCorrigan et al., 2011
03-meiLNDG > A7485162c.485G>ASer > AsnCorrigan et al., 2011
OBHRHG > C7485162c.485G>CSer > Thrnew
FarnhamLNVC > G7486162c.486C>GSer > ArgBoyd et al., 1993; Davidson et al., 1991
NSLNDC > G7486162c.486C>GSer > ArgYamada et al., 2011a
73-01LNDT > C7488163c.488T>CLeu > SerCorrigan et al., 2011
III-2, V-2,V-3HNDG > T7500167c.500G>TArg > MetSarafoglou et al., 2010
Case 19-15HNDG > C7500167c.500G>CArg > ThrJinnah et al., 2010
Brisbane, FCHRHC > T7503168c.503C>TThr > IleGordon, 1990
Family XIHRHC > T7526176c.526C>TPro > SerJurecka et al., 2008; Popowska et al., 1998
MarlowLNVC > T7527176c.527C>TPro > LeuBoyd et al., 1993; Davidson et al., 1991
RJK 2185LNDG > T7529177c.529G>TAsp > TyrGibbs et al., 1990
NSLNDA > T7530177c.530A>TAsp > ValNguyen et al., 2011
TALNDA > T7530177c.530A>TAsp > Valnew
LN4, LN14, ADCLNDG > A8539180c.539G>AGly > GluJinnah et al., 2000
LN139A, G8081, JGLNDG > A8539180c.539G>AGly > Glunew
Family 39 (LN102, ME)LNDT > C8541181c.541T>CPhe > LeuO'Neill, 2004
LN216, KDLNDT > C8541181c.541T>CPhe > Leunew
1734, BF, JF, Case 15-9HNDT > C8548183c.548T>CIle > ThrJinnah et al., 2010; Sege-Peterson et al., 1992; Tarle et al., 1991
India IILNDC > A8550184c.550C>APro > Thrnew
OA;MAHNDA > T8554185c.554A>TAsp > Valnew
MBHNDA > T8554185c.554A>TAsp > Valnew
NS, Family 2HRHA > G8554185c.554A>GAsp > GlyIshida et al., 2008; Yamada et al., 2007
48-99 [5]HRHG > C8558186c.558G>CLys > AsnCorrigan et al., 2011
Case #1HNDT > C8563188c.563T>CVal > AlaYamada et al., 1991; Yamada et al., 1992
LN36, JJNLNDG > T8565189c.565G>TVal > LeuJinnah et al., 2000
LN73, ASLNDG > C8568190c.568G>CGly > ArgJinnah et al., 2000
Family XIILNDG > A8569190c.569G>AGly > GluJurecka et al., 2008; Popowska et al., 1998
Patient 3LNDG > A8569190c.569G>AGly > GluMak et al., 2000
29-augHRHG > A8574192c.574G>AAla > ThrCorrigan et al., 2011
NSHRHC > T8575192c.575C>TAla > ValYamada et al., 2004
07-janHRHC > T8577193c.577C>TLeu > PheCorrigan et al., 2011
JMHNDT > G8579193c.579T>GLeu > ArgMarcus et al., 1993a
Kinston, RJK 2188, ESLNDG > A8580194c.580G>AAsp > AsnGibbs et al., 1990; Jinnah et al., 2006; Wilson and Kelley, 1983; Wilson and Kish, 1996
ECLNDG > T8580194c.580G>TAsp > TyrJinnah et al., 2000; Jinnah et al., 2006
LN46, FDLNDG > C8580194c.580G>CAsp > HisJinnah et al., 2000
Moose Jaw, Cases 44-33, 46-33HNDC > G8582194c.582C>GAsp > GluJinnah et al., 2010; Lightfoot et al., 1994
Case 21-17HNDA > C8584195c.584A>CTyr > SerJinnah et al., 2010; Larovere et al., 2007; Larovere et al., 2004
Cases 27-22, 35-22HNDA > C8584195c.584A>CTyr > SerJinnah et al., 2010; Larovere et al., 2007; Larovere et al., 2004
LN203C, NPLNVA > C8584195c.584A>CTyr > Sernew
Dirranbandi, CC [6]LNVA > G8584195c.584A>GTyr > CysSculley et al., 1992
NSHRHA > G8584195c.584A>GTyr > CysYamada et al., 2004
NSHNDA > G8586196c.586A>GAsn > AspWillers et al., 1999
58/01, Family 23LNDA > T8590197c.590A>TGlu > ValBertelli et al., 2004; de Gemmis et al., 2010
LN15, BrasilLNDA > T8590197c.590A>TGlu > ValJinnah et al., 2000; O'Neill et al., 1999
New Brighton, RJK 950, ECLNDT > G8595199c.595T>GPhe > ValDavidson et al., 1989b; Gibbs et al., 1989
PB;ABLNDT > G8595199c.595T>GPhe > Valnew
LP, Case 38-30HNDT > G8596199c.596T>GPhe > CysEa et al., 2009; Jinnah et al., 2010
DG;MGHNDC > T8597199c.597C>GPhe > Leunew
BT, LN39, Case 17-13HNDG > C8599200c.599G>CArg > ThrHidalgo-Laos et al., 1997; Jinnah et al., 2010
RB, Case 14-11HNDG > A8601201c.601G>AAsp > AsnJinnah et al., 2010; Sege-Peterson et al., 1992
GMLNDG > T8601201c.601G>TAsp > TyrSege-Peterson et al., 1992
DBLNDA > T8602201c.602A>TAsp > ValJinnah et al., 2000
Ashville, PCLNVA > G8602201c.602A>GAsp > GlyDavidson et al., 1989a
LN206, JF,Case 26-21 [7]HNDA > G8602201c.602A>GAsp > GlyJinnah et al., 2010
27/01, Family 24LNDG > T8606202c.606G>TLeu > PheBertelli et al., 2004; de Gemmis et al., 2010
H768LNDC > T9610204c.610C>THis > TyrTvrdik et al., 1998
RJK 1874LNDC > G9610204c.610C>GHis > AspGibbs et al., 1989
RJK 2079LNDC > G9610204c.610C>GHis > AspGibbs et al., 1989
Case1, Family 1LNDC > G9610204c.610C>GHis > AspJinnah et al., 2006
BMLNDA > G9611204c.611A>GHis > ArgJinnah et al., 2000
779, JDLNDA > G9611204c.611A>GHis > ArgTarle et al., 1991
BWLNDA > G9611204c.611A>GHis > Argnew
LN155, KH LNDA > T9611204c.611A>THis > Leunew
ReadingLNDG > A9617206c.617G>ACys > TyrBoyd et al., 1993; Davidson et al., 1991
RJK 1727LNDG > A9617206c.617G>ACys > TyrGibbs et al., 1989
LN27, AHLNDG > A9635212c.635G>AGly > GluJinnah et al., 2000
MDLNDG > A9635212c.635G>AGly > Glunew

Notes:
[1] OldNC designates an old nomenclature for mutations.
[2] HGVS designates human genome variation society. See website: http://www.hgvs.org.
[3] NS designates a mutation for which no identifying information was provided for nomenclature.
[4] A subsequent re-analysis of this case (Tarle et al., 1991) provided a different result shown as DL (Jinnah et al., 2000) in Table 3.
[5] Previously reported as p.Lys186Asp (Corrigan et al., 2011).
[6] Quoted in prior review (Sculley et al., 1992) but not published in primary literature.
[7] Genomic DNA revealed the base substitution A602G predicting D201G, but mRNA showed exclusion of exon 8, suggesting a coding region error leading to a splicing defect.