Missense point mutations

namephenotypemutationexonbasecodonresultremarksource
NSHNDc.1A>T111Met > LeuNS designates a mutation for which no identifying information was provided for nomenclature. (Alonso-Gonzalez et al., 2012)
SZHNDc.2T>C121Met > Thr(Gathof et al., 1996)
1151, JRLNDc.3G>A131Met > Ile(Tarle et al., 1991)
LN49, JTLNDc.3G>A131Met > Ile(Jinnah et al., 2000)
GravesendHRHc.20G>A1207Gly > Asp(Davidson et al., 1991)
HB, LN154HNDc.23T>G1238Val > Gly(Sege-Peterson et al., 1992)
NSLNDc.29T>G22910Ile > Ser(Yamada et al., 2008)
LN8, GALNDc.29T>A22910Ile > Asn(Jinnah et al., 2000)
NSLNDc.35A>C23512Asp > Ala(Nguyen et al., 2011)
Urangan, GLHNDc.46G>A24616Gly > Ser(Sculley et al., 1991)
42-05HRHc.46G>C24616Gly > Ala(Corrigan et al., 2011)
FGLNDc.47G>A24716Gly > Asp(Sege-Peterson et al., 1992)
44-07LNDc.47G>T24716Gly > Val(Corrigan et al., 2011)
CFLNDc.47G>T24716Gly > Valnew
Family 5 (LN107, KH)LNDc.50A>G25017Tyr > Cys(O'Neill, 2004)
MashadLNVc.59A>T25920Asp > Val(Davidson et al., 1991)
NSHRHc.59A>T25920Asp > Valnew
188-10LNDc.65T>G26522Phe > Cys(Corrigan et al., 2011)
ACLNDc.65T>G26522Phe > Cysnew
NSHRHc.68G>T26823Cys > Phe(Hikita et al., 1998)
JSHRHc.69C>G26923Cys > Trp(Sege-Peterson et al., 1992)
YonagoHRHc.73C>A27325Pro > Thr(Tohyama et al., 1994)
15/00, Family 25LNDc.74C>G27425Pro > Arg(Bertelli et al., 2004; de Gemmis et al., 2010)
NSLNDc.74C>G27425Pro > Arg(Yamada et al., 2011a)
MDHNDc.85G>C28529Ala > Pronew
Chia-yi, Case 42-32HRHc.93T>G29331Asp > Glu(Jinnah et al., 2010; Wu et al., 2007)
ASLNDc.95T>C29532Leu > Ser(Jinnah et al., 2000)
LN72, CFLNDc.96G>C29632Leu > Phe(Jinnah et al., 2000)
Family 15HRHc.112C>T211238Pro > Ser(de Gemmis et al., 2010)
LN24, JJLNDc.113C>T211338Pro > Leu(Jinnah et al., 2000)
APLNDc.115C>G211539His > Asp(Jinnah et al., 2006)
APHNDc.115C>G211539His > Aspnew
ACLNDc.118G>A211840Gly > Argnew
Huelva, LN-HLNDc.118G>A211840Gly > Arg(Puig et al., 2001; Torres et al., 2000)
Detroit, KMLNDc.122T>C212241Leu > Pro(Davidson et al., 1989b)
Isar, KMLNDc.124A>T212442Ile > Phe(Burgemeister et al., 1994)
HeapyNAc.125T>C212542Ile > Thr(Davidson et al., 1991)
OALNDc.125T>C212542Ile > Thrnew
Santona, Case 25-20HNDc.125T>C212542Ile > Thr(Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000)
NSLNDc.130G>T213044Asp > Try(Yamada et al., 2011a)
MGLNDc.130G>C213044Asp > Hisnew
NSLNDc.131A>T213144Asp > Val(Yamada et al., 2008)
Family ILNDc.131A>G213144Asp > Gly(Jurecka et al., 2008)
NSLNDc.131A>G213144Asp > Gly(Jinnah et al., 2006)
NSLNDc.133A>G213345Arg > Gly(Nguyen et al., 2011)
NSLNVc.134G>A213445Arg > Lys(Willers et al., 1999)
RJK 2163, TDLNDc.134G>A213445Arg > Lys(Gibbs et al., 1990)
GLA 7292LNDc.134G>A213445Arg > Lys(Boyd et al., 1993)
LN59, CCLNDc.134G>A213445Arg > Lys(Jinnah et al., 2000)
LN40-3, CCLNDc.140A>T314047Glu > Val(Jinnah et al., 2000; Jinnah et al., 2006)
LN11C, MC, MCLNDc.140A>G314047Glu > Gly(Jinnah et al., 2000; Jinnah et al., 2006)
71-05HRHc.142C>T314248Arg > Cys(Corrigan et al., 2011)
AGHRHc.143G>A314348Arg > His(Sege-Peterson et al., 1992)
DD, Case 30-24HNDc.143G>A314348Arg > His(Jinnah et al., 2010; Sege-Peterson et al., 1992)
DoA, Case 6-6HNDc.143G>A314348Arg > His(Jinnah et al., 2010)
GH (case 23-14) and TH (case 18-14); LN207HNDc.143G>A314348Arg > His(Jinnah et al., 2010)
JB (case 36-16); LN134, VC (case 20-16); CZ (case 43-16);HNDc.143G>A314348Arg > His(Jinnah et al., 2010; Larovere et al., 2007)
Madrid II, Case 28-23HNDc.143G>A314348Arg > His(Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000)
Patient 21, Family 17HNDc.143G>A314348Arg > His(de Gemmis et al., 2010)
VDHRHc.143G>A314348Arg > His(Jinnah et al., 2010)
LAHNDc.143G>A314348Arg > His(Jinnah et al., 2010)
LN214, PGLNVc.143G>A314348Arg > His(Sapag et al.)
LAHNDc.143G>A314348Arg > Hisnew
ADHNDc.143G>A314348Arg > Hisnew
Family 16LNDc.145C>T314549Leu > Phe(de Gemmis et al., 2010)
LN159, DPLNDc.145C>T314549Leu > Phenew
MBLNDc.146T>G314649Leu > Argnew
CM;SMLNDc.148G>A314850Ala > Thrnew
LW, Case 34-28HNDc.148G>C314850Ala > Pro(Jinnah et al., 2010; Sege-Peterson et al., 1992)
1265, RSLNDc.149C>T314950Ala > Val(Tarle et al., 1991)
49-08LNDc.149C>A314950Ala > Asp(Corrigan et al., 2011)
Toronto, LPHRHc.151C>G315151Arg > Gly(Wilson et al., 1986; Wilson et al., 1983)
TsouHRHc.152G>A315251Arg > Gln(Chang et al., 1999; Jinnah et al., 2010)
BanburyNAc.152G>C315251Arg > Pro(Boyd et al., 1993; Davidson et al., 1991)
TEHRHc.157G>A315753Val > Met(Sege-Peterson et al., 1992)
MGHRHc.158T>C315853Val > Ala(Sege-Peterson et al., 1992)
ML;ALLNDc.158T>G315853Val > Glynew
Japan1LNDc.160A>C316054Met > Leu(Igarishi et al., 1989)
MariborHRHc.169A>G316957Met > Val(Gregoric et al., 2005)
MontrealHNDc.170T>C317057Met > Thr(Skopek et al., 1990)
Toowong, PHLNVc.173G>A317358Gly > Arg(Sculley et al., 1991)
NSNormalc.179A>G317960His > Arg(Yamada et al., 2008)
NSHRHc.179A>G317960His > Argnew
Case #2LNDc.190G>C319064Ala > Pro(Yamada et al., 1992)
NALNDc.190G>C319064Ala > Pro(Yamada et al., 2011a)
1/01, Family 18LNDc.191C>A319164Ala > Asp(Bertelli et al., 2004; de Gemmis et al., 2010)
GHLNDc.191C>A319164Ala > Asp(Marcus et al., 1993a)
LN56, JWHNDc.193C>T319365Leu > Phe(Jinnah et al., 2010; Jinnah et al., 2000; Srivastava et al., 2002)
CTLNDc.194T>C319465Leu > Pro(Jinnah et al., 2000)
NSLNDc.194T>C319465Leu > Pro(Yamada et al., 2004)
LN-JLNDc.196T>C319666Cys > Arg(Jinnah et al., 2000)
YGHRHc.200T>C320067Val > Alanew
BOLNDc.203T>C320368Leu > Pro(Jinnah et al., 2006)
DiA, Case 9-5; HA, Case 29-5; NF,BF, Case 5-5;DD;SD;KYHNDc.203T>C320368Leu > Pro(Jinnah et al., 2010)
LN121, BOLNDc.203T>C320368Leu > Pro(Larovere et al., 2007)
LN53, ECLNDc.203T>G320368Leu > Arg(Jinnah et al., 2000)
NSLNDc.208G>A320870Gly > Arg(Tohyama et al., 1994)
UtrechtLNDc.208G>A320870Gly > Arg(Bouwens-Rombouts et al., 1993)
M, 8/00, Family 19LNDc.208G>T320870Gly > Trp(Bertelli et al., 2004; de Gemmis et al., 2010; Gathof et al., 1996)
ALLNDc.208G>C320870Gly > Arg(Jinnah et al., 2000)
1510, JFLNDc.209G>A320970Gly > Glu(Tarle et al., 1991)
955-2, JPLNDc.209G>A320970Gly > Glu(Tarle et al., 1991)
JFS, LN120LNDc.209G>A320970Gly > Glu(Jinnah et al., 2006)
NALNDc.209G>A320970Gly > Glu(Larovere et al., 2007)
New Haven, DGLNDc.209G>A320970Gly > Glu(Davidson et al., 1989b)
NSLNDc.209G>A320970Gly > Glu(Tohyama et al., 1994)
NSLNDc.209G>A320970Gly > Glu(Yamada et al., 2004)
RTLNDc.209G>A320970Gly > Glunew
Yale, KTLNDc.211G>C321171Gly > Arg(Fujimori et al., 1989a, b)
106/01, Family 20LNDc.212G>A321271Gly > Asp(Bertelli et al., 2004; de Gemmis et al., 2010)
DW, SWLNDc.212G>T321271Gly > Val(Jinnah et al., 2000)
NSHNDc.212G>T321271Gly > Val(Willers et al., 1999)
Madrid I, Case 16-12HNDc.212G>T321271Gly > Val(Bouwens-Rombouts et al., 1993; Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000)
NSHNDc.212G>T321271Gly > Val(Yamada et al., 2011a)
Tachikawa, HKHRHc.215A>G321572Tyr > Cys(Fujimori et al., 1994)
SeoulHRHc.215A>G321572Tyr > Cys(Choi et al., 1993; Kim et al., 1997)
Case II.1, II.4HRHc.215A>G321572Tyr > Cys(Sebesta et al., 2008)
NSHRHc.215A>G321572Tyr > Cys(Yamada et al., 2011a; Yamada et al., 2004)
Family IILNDc.220T>G322074Phe > Val(Jurecka et al., 2008)
LN139F, OLNDc.220T>G322074Phe > Valnew
LN58, SJLNDc.221T>G322174Phe > Cys(Jinnah et al., 2000)
DWLNDc.222C>A322274Phe > Leu(Sege-Peterson et al., 1992)
Family IIILNDc.222C>A322274Phe > Leu(Jurecka et al., 2008; Popowska et al., 1998)
Perth, BBLNDc.222C>A322274Phe > Leu(Sculley et al., 1991)
Flint, RJK 892, ACLNDc.222C>A322274Phe > Leu(Davidson et al., 1988b; Gibbs et al., 1989)
1522, GHLNDc.222C>A322274Phe > Leu(Tarle et al., 1991)
NSLNDc.222C>A322274Phe > Leu(Yamada et al., 2011a)
TaichungLNDc.222C>G322274Phe > Leu(Lee et al., 1995; Mak et al., 2000)
Swan, DWLNVc.232C>G323278Leu > Val(Sculley et al., 1991)
Case #3LNDc.233T>A323378Leu > Gln(Yamada et al., 1992)
Arlington, MS, WBHNDc.239A>T323980Asp > Val(Davidson et al., 1989b; Jinnah et al., 2010)
NSHRHc.293A>G329398Asp > Gly(Wong et al., 2008)
LN139C, H4755, BLNDc.293A>G329398Asp > Glynew
RumaniaHNDc.295T>G329599Phe > Valnew
Family IVHNDc.295T>G329599Phe > Val(Jurecka et al., 2008)
Munich, IVHRHc.310A>G3310104Ser > Arg(Wilson et al., 1986; Wilson et al., 1983)
DBHRHc.329C>T4329110Ser > Leu(Wilson et al., 1986)
London, GSHRHc.329C>T4329110Ser > Leu(Wilson et al., 1986; Wilson et al., 1983)
Family 1HRHc.370A>C4370124Thr > Pro(Yamada et al., 2007)
DWHNDc.371C>G4371124Thr > Ser(Jinnah et al., 2000)
MCHRHc.374T>C4374125Leu > Sernew
TPLNDc.379G>T4379127Gly > Valnew
375LNDc.389T>A5389130Val > Asp A subsequent re-analysis of this case (Tarle et al., 1991) provided a different result shown as DL (Jinnah et al., 2000)(Tarle et al., 1991)
Midland, RJK 896, JHLNDc.389T>A5389130Val > Asp(Davidson et al., 1988a; Gibbs et al., 1989)
RJK 1784LNDc.392T>C5392131Leu > Ser(Gibbs et al., 1989)
EGLNDc.392T>G5392131Leu > Trpnew
LN-C, LN30, SMLNDc.395T>G5395132Ile > Ser(Jinnah et al., 2000)
RuncornNAc.395T>C5395132Ile > Thr(Davidson et al., 1991)
Ann Arbor, KC, TCHRHc.396T>G5396132Ile > Met(Fujimori et al., 1988; Wilson et al., 1986)
Zaragoza IHRHc.397G>A5397133Val > Met(Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000)
NSHRHc.404A>T6404135Asp > Val(Willers et al., 1999)
Yeronga, SBLNVc.404A>G6404135Asp > Gly(Sculley et al., 1992)
PAHRHc.404A>G6404135Asp > Glynew
JGLNDc.407T>A6407136Ile > Lys(Jinnah et al., 2000)
Marseille,BC;FC;NC;WC;LCHRHc.407T>C6407136Ile > Thr(Dussol et al., 2004; Jinnah et al., 2010)
JerusalemHNDc.410T>C6410137Ile > Thr(Zoref-Shani et al., 2003, 2004)
NSLNDc.415A>C6415139Thr > Pro(Yamada et al., 2008; Yamada et al., 2011a)
2027124, Family 21LNDc.418G>C6418140Gly > Arg(Bertelli et al., 2004; de Gemmis et al., 2010)
Tokyo, YYLNDc.419G>A6419140Gly > Asp(Fujimori et al., 1992; Fujimori et al., 1991; Fujimori et al., 1994)
Family 32 (LN111, BM)LNDc.419G>A6419140Gly > Asp(O'Neill, 2004)
Potenza, LCNAc.439C>T6439147Leu > Phe(Micheli et al., 2002)
NSHNDc.440T>C6440147Leu > Pro(Yamada et al., 2004)
Family 22HNDc.440T>C6440147Leu > Pro(de Gemmis et al., 2010)
NSHNDc.449T>G6449150Val > Gly(Chiong et al., 2006)
Sardinia, Case 33-27HNDc.463C>T6463155Pro > Ser(Cossu et al., 2002; Cossu et al., 2006; Jinnah et al., 2010)
Niigata, DSHRHc.472G>T6472158Val > Phe(Fujimori et al., 1994)
NAHRHc.472G>T6472158Val > Phe(Yamada et al., 2011a)
47-07LNDc.473T>G6473158Val > Gly(Corrigan et al., 2011)
NSHNDc.475A>G6475159Lys > Glu(Yamada et al., 2004)
NGHNDc.475A>G6475159Lys > Glunew
LN167, RTLNDc.476A>C6476159Lys > Thrnew
Family VII (patient 9; 10)LNVc.481G>A6481161Ala > Thr(Jurecka et al., 2008; Popowska et al., 1998)
Milwaukee, RJK 949, JMHRHc.481G>T6481161Ala > Ser(Davidson et al., 1989b; Gibbs et al., 1989)
Family VIIILNDc.482C>A6482161Ala > Glu(Jurecka et al., 2008; Popowska et al., 1998)
LN3, CJWLNDc.482C>A6482161Ala > Glu(Jinnah et al., 2000)
09-00LNDc.484A>C7484162Ser > Arg(Corrigan et al., 2011)
3-meiLNDc.485G>A7485162Ser > Asn(Corrigan et al., 2011)
OBHRHc.485G>C7485162Ser > Thrnew
FarnhamLNVc.486C>G7486162Ser > Arg(Boyd et al., 1993; Davidson et al., 1991)
NSLNDc.486C>G7486162Ser > Arg(Yamada et al., 2011a)
73-01LNDc.488T>C7488163Leu > Ser(Corrigan et al., 2011)
III-2, V-2,V-3HNDc.500G>T7500167Arg > Met(Sarafoglou et al., 2010)
Case 19-15HNDc.500G>C7500167Arg > Thr(Jinnah et al., 2010)
Brisbane, FCHRHc.503C>T7503168Thr > Ile(Gordon, 1990)
Family XIHRHc.526C>T7526176Pro > Ser(Jurecka et al., 2008; Popowska et al., 1998)
MarlowLNVc.527C>T7527176Pro > Leu(Boyd et al., 1993; Davidson et al., 1991)
RJK 2185LNDc.529G>T7529177Asp > Tyr(Gibbs et al., 1990)
NSLNDc.530A>T7530177Asp > Val(Nguyen et al., 2011)
TALNDc.530A>T7530177Asp > Valnew
LN4, LN14, ADCLNDc.539G>A8539180Gly > Glu(Jinnah et al., 2000)
LN139A, G8081, JGLNDc.539G>A8539180Gly > Glunew
Family 39 (LN102, ME)LNDc.541T>C8541181Phe > Leu(O'Neill, 2004)
LN216, KDLNDc.541T>C8541181Phe > Leunew
1734, BF, JF, Case 15-9HNDc.548T>C8548183Ile > Thr(Jinnah et al., 2010; Sege-Peterson et al., 1992; Tarle et al., 1991)
India IILNDc.550C>A8550184Pro > Thrnew
OA;MAHNDc.554A>T8554185Asp > Valnew
MBHNDc.554A>T8554185Asp > Valnew
NS, Family 2HRHc.554A>G8554185Asp > Gly(Ishida et al., 2008; Yamada et al., 2007)
48-99HRHc.558G>C8558186Lys > AsnPreviously reported as p.Lys186Asp (Corrigan et al., 2011)(Corrigan et al., 2011)
Case #1HNDc.563T>C8563188Val > Ala(Yamada et al., 1991; Yamada et al., 1992)
LN36, JJNLNDc.565G>T8565189Val > Leu(Jinnah et al., 2000)
LN73, ASLNDc.568G>C8568190Gly > Arg(Jinnah et al., 2000)
Family XIILNDc.569G>A8569190Gly > Glu(Jurecka et al., 2008; Popowska et al., 1998)
Patient 3LNDc.569G>A8569190Gly > Glu(Mak et al., 2000)
29-augHRHc.574G>A8574192Ala > Thr(Corrigan et al., 2011)
NSHRHc.575C>T8575192Ala > Val(Yamada et al., 2004)
7-janHRHc.577C>T8577193Leu > Phe(Corrigan et al., 2011)
JMHNDc.579T>G8579193Leu > Arg(Marcus et al., 1993a)
Kinston, RJK 2188, ESLNDc.580G>A8580194Asp > Asn(Gibbs et al., 1990; Jinnah et al., 2006; Wilson and Kelley, 1983; Wilson and Kish, 1996)
ECLNDc.580G>T8580194Asp > Tyr(Jinnah et al., 2000; Jinnah et al., 2006)
LN46, FDLNDc.580G>C8580194Asp > His(Jinnah et al., 2000)
Moose Jaw, Cases 44-33, 46-33HNDc.582C>G8582194Asp > Glu(Jinnah et al., 2010; Lightfoot et al., 1994)
Case 21-17HNDc.584A>C8584195Tyr > Ser(Jinnah et al., 2010; Larovere et al., 2007; Larovere et al., 2004)
Cases 27-22, 35-22HNDc.584A>C8584195Tyr > Ser(Jinnah et al., 2010; Larovere et al., 2007; Larovere et al., 2004)
LN203C, NPLNVc.584A>C8584195Tyr > Sernew
Dirranbandi, CCLNVc.584A>G8584195Tyr > CysQuoted in prior review (Sculley et al., 1992) but not published in primary literature. (Sculley et al., 1992)
NSHRHc.584A>G8584195Tyr > Cys(Yamada et al., 2004)
NSHNDc.586A>G8586196Asn > Asp(Willers et al., 1999)
58/01, Family 23LNDc.590A>T8590197Glu > Val(Bertelli et al., 2004; de Gemmis et al., 2010)
LN15, BrasilLNDc.590A>T8590197Glu > Val(Jinnah et al., 2000; O'Neill et al., 1999)
New Brighton, RJK 950, ECLNDc.595T>G8595199Phe > Val(Davidson et al., 1989b; Gibbs et al., 1989)
PB;ABLNDc.595T>G8595199Phe > Valnew
LP, Case 38-30HNDc.596T>G8596199Phe > Cys(Ea et al., 2009; Jinnah et al., 2010)
DG;MGHNDc.597C>G8597199Phe > Leunew
BT, LN39, Case 17-13HNDc.599G>C8599200Arg > Thr(Hidalgo-Laos et al., 1997; Jinnah et al., 2010)
RB, Case 14-11HNDc.601G>A8601201Asp > Asn(Jinnah et al., 2010; Sege-Peterson et al., 1992)
GMLNDc.601G>T8601201Asp > Tyr(Sege-Peterson et al., 1992)
DBLNDc.602A>T8602201Asp > Val(Jinnah et al., 2000)
Ashville, PCLNVc.602A>G8602201Asp > Gly(Davidson et al., 1989a)
LN206, JF,Case 26-21HNDc.602A>G8602201Asp > GlyGenomic 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.(Jinnah et al., 2010)
27/01, Family 24LNDc.606G>T8606202Leu > Phe(Bertelli et al., 2004; de Gemmis et al., 2010)
H768LNDc.610C>T9610204His > Tyr(Tvrdik et al., 1998)
RJK 1874LNDc.610C>G9610204His > Asp(Gibbs et al., 1989)
RJK 2079LNDc.610C>G9610204His > Asp(Gibbs et al., 1989)
Case1, Family 1LNDc.610C>G9610204His > Asp(Jinnah et al., 2006)
BMLNDc.611A>G9611204His > Arg(Jinnah et al., 2000)
779, JDLNDc.611A>G9611204His > Arg(Tarle et al., 1991)
BWLNDc.611A>G9611204His > Argnew
LN155, KHLNDc.611A>T9611204His > Leunew
ReadingLNDc.617G>A9617206Cys > Tyr(Boyd et al., 1993; Davidson et al., 1991)
RJK 1727LNDc.617G>A9617206Cys > Tyr(Gibbs et al., 1989)
LN27, AHLNDc.635G>A9635212Gly > Glu(Jinnah et al., 2000)
MDLNDc.635G>A9635212Gly > Glunew