Missense point mutations

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

NameCaseMutation (OldNC) [1]ExonBaseCodonMutation (HGVS) [2]ResultSource
NS [3]HNDA > T111c.1A>TMet > Leu(Alonso-Gonzalez et al., 2012)
SZHNDT > C121c.2T>CMet > Thr(Gathof et al., 1996)
1151, JRLNDG > A131c.3G>AMet > Ile(Tarle et al., 1991)
LN49, JTLNDG > A131c.3G>AMet > Ile(Jinnah et al., 2000)
GravesendHRHG > A1207c.20G>AGly > Asp(Davidson et al., 1991)
HB, LN154HNDT > G1238c.23T>GVal > Gly(Sege-Peterson et al., 1992)
NSLNDT > G22910c.29T>GIle > Ser(Yamada et al., 2008)
LN8, GALNDT > A22910c.29T>AIle > Asn(Jinnah et al., 2000)
NSLNDA > C23512c.35A>CAsp > Ala(Nguyen et al., 2011)
Urangan, GLHNDG > A24616c.46G>AGly > Ser(Sculley et al., 1991)
42-05HRHG > C24616c.46G>CGly > Ala(Corrigan et al., 2011)
FGLNDG > A24716c.47G>AGly > Asp(Sege-Peterson et al., 1992)
44-07LNDG > T24716c.47G>TGly > Val(Corrigan et al., 2011)
CFLNDG > T24716c.47G>TGly > Valnew
Family 5 (LN107, KH)LNDA > G25017c.50A>GTyr > Cys(O'Neill, 2004)
MashadLNVA > T25920c.59A>TAsp > Val(Davidson et al., 1991)
NSHRHA > T25920c.59A>TAsp > Valnew
188-10LNDT > G26522c.65T>GPhe > Cys(Corrigan et al., 2011)
ACLNDT > G26522c.65T>GPhe > Cysnew
NSHRHG > T26823c.68G>TCys > Phe(Hikita et al., 1998)
JSHRHC > G26923c.69C>GCys > Trp(Sege-Peterson et al., 1992)
YonagoHRHC > A27325c.73C>APro > Thr(Tohyama et al., 1994)
15/00, Family 25LNDC > G27425c.74C>GPro > Arg(Bertelli et al., 2004; de Gemmis et al., 2010)
NSLNDC > G27425c.74C>GPro > Arg(Yamada et al., 2011a)
MDHNDG > C28529c.85G>CAla > Pronew
Chia-yi, Case 42-32HRHT > G29331c.93T>GAsp > Glu(Jinnah et al., 2010; Wu et al., 2007)
ASLNDT > C29532c.95T>CLeu > Ser(Jinnah et al., 2000)
LN72, CFLNDG > C29632c.96G>CLeu > Phe(Jinnah et al., 2000)
Family 15HRHC > T211238c.112C>TPro > Ser(de Gemmis et al., 2010)
LN24, JJLNDC > T211338c.113C>TPro > Leu(Jinnah et al., 2000)
APLNDC > G211539c.115C>GHis > Asp(Jinnah et al., 2006)
APHNDC > G211539c.115C>GHis > Aspnew
ACLNDG > A211840c.118G>AGly > Argnew
Huelva, LN-HLNDG > A211840c.118G>AGly > Arg(Puig et al., 2001; Torres et al., 2000)
Detroit, KMLNDT > C212241c.122T>CLeu > Pro(Davidson et al., 1989b)
Isar, KMLNDA > T212442c.124A>TIle > Phe(Burgemeister et al., 1994)
HeapyNAT > C212542c.125T>CIle > Thr(Davidson et al., 1991)
OALNDT > C212542c.125T>CIle > Thrnew
Santona, Case 25-20HNDT > C212542c.125T>CIle > Thr(Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000)
NSLNDG > T213044c.130G>TAsp > Try(Yamada et al., 2011a)
MGLNDG > C213044c.130G>CAsp > Hisnew
NSLNDA > T213144c.131A>TAsp > Val(Yamada et al., 2008)
Family ILNDA > G213144c.131A>GAsp > Gly(Jurecka et al., 2008)
NSLNDA > G213144c.131A>GAsp > Gly(Jinnah et al., 2006)
NSLNDA > G213345c.133A>GArg > Gly(Nguyen et al., 2011)
NSLNVG > A213445c.134G>AArg > Lys(Willers et al., 1999)
RJK 2163, TDLNDG > A213445c.134G>AArg > Lys(Gibbs et al., 1990)
GLA 7292LNDG > A213445c.134G>AArg > Lys(Boyd et al., 1993)
LN59, CCLNDG > A213445c.134G>AArg > Lys(Jinnah et al., 2000)
LN40-3, CCLNDA > T314047c.140A>TGlu > Val(Jinnah et al., 2000; Jinnah et al., 2006)
LN11C, MC, MCLNDA > G314047c.140A>GGlu > Gly(Jinnah et al., 2000; Jinnah et al., 2006)
71-05HRHC > T314248c.142C>TArg > Cys(Corrigan et al., 2011)
AGHRHG > A314348c.143G>AArg > His(Sege-Peterson et al., 1992)
DD, Case 30-24HNDG > A314348c.143G>AArg > His(Jinnah et al., 2010; Sege-Peterson et al., 1992)
DoA, Case 6-6HNDG > A314348c.143G>AArg > His(Jinnah et al., 2010)
GH (case 23-14) and TH (case 18-14); LN207HNDG > A314348c.143G>AArg > His(Jinnah et al., 2010)
JB (case 36-16); LN134, VC (case 20-16); CZ (case 43-16); HNDG > A314348c.143G>AArg > His(Jinnah et al., 2010; Larovere et al., 2007)
Madrid II, Case 28-23HNDG > A314348c.143G>AArg > His(Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000)
Patient 21, Family 17HNDG > A314348c.143G>AArg > His(de Gemmis et al., 2010)
VDHRHG > A314348c.143G>AArg > His(Jinnah et al., 2010)
LAHNDG > A314348c.143G>AArg > His(Jinnah et al., 2010)
LN214, PG LNVG > A314348c.143G>AArg > His(Sapag et al.)
LAHNDG > A314348c.143G>AArg > Hisnew
ADHNDG > A314348c.143G>AArg > Hisnew
Family 16LNDC > T314549c.145C>TLeu > Phe(de 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 > Pro(Jinnah et al., 2010; Sege-Peterson et al., 1992)
1265, RSLNDC > T314950c.149C>TAla > Val(Tarle et al., 1991)
49-08LNDC > A314950c.149C>AAla > Asp(Corrigan et al., 2011)
Toronto, LPHRHC > G315151c.151C>GArg > Gly(Wilson et al., 1986; Wilson et al., 1983)
TsouHRHG > A315251c.152G>AArg > Gln(Chang et al., 1999; Jinnah et al., 2010)
BanburyNAG > C315251c.152G>CArg > Pro(Boyd et al., 1993; Davidson et al., 1991)
TEHRHG > A315753c.157G>AVal > Met(Sege-Peterson et al., 1992)
MGHRHT > C315853c.158T>CVal > Ala(Sege-Peterson et al., 1992)
ML;ALLNDT > G315853c.158T>GVal > Glynew
Japan1LNDA > C316054c.160A>CMet > Leu(Igarishi et al., 1989)
MariborHRHA > G316957c.169A>GMet > Val(Gregoric et al., 2005)
MontrealHNDT > C317057c.170T>CMet > Thr(Skopek et al., 1990)
Toowong, PHLNVG > A317358c.173G>AGly > Arg(Sculley et al., 1991)
NSNormalA > G317960c.179A>GHis > Arg(Yamada et al., 2008)
NSHRHA > G317960c.179A>GHis > Argnew
Case #2LNDG > C319064c.190G>CAla > Pro(Yamada et al., 1992)
NALNDG > C319064c.190G>CAla > Pro(Yamada et al., 2011a)
1/01, Family 18LNDC > A319164c.191C>AAla > Asp(Bertelli et al., 2004; de Gemmis et al., 2010)
GHLNDC > A319164c.191C>AAla > Asp(Marcus et al., 1993a)
LN56, JWHNDC > T319365c.193C>TLeu > Phe(Jinnah et al., 2010; Jinnah et al., 2000; Srivastava et al., 2002)
CTLNDT > C319465c.194T>CLeu > Pro(Jinnah et al., 2000)
NSLNDT > C319465c.194T>CLeu > Pro(Yamada et al., 2004)
LN-JLNDT > C319666c.196T>CCys > Arg(Jinnah et al., 2000)
YGHRHT > C320067c.200T>CVal > Alanew
BOLNDT > C320368c.203T>CLeu > Pro(Jinnah et al., 2006)
DiA, Case 9-5; HA, Case 29-5; NF,BF, Case 5-5;DD;SD;KYHNDT > C320368c.203T>CLeu > Pro(Jinnah et al., 2010)
LN121, BOLNDT > C320368c.203T>CLeu > Pro(Larovere et al., 2007)
LN53, ECLNDT > G320368c.203T>GLeu > Arg(Jinnah et al., 2000)
NSLNDG > A320870c.208G>AGly > Arg(Tohyama et al., 1994)
UtrechtLNDG > A320870c.208G>AGly > Arg(Bouwens-Rombouts et al., 1993)
M, 8/00, Family 19LNDG > T320870c.208G>TGly > Trp(Bertelli et al., 2004; de Gemmis et al., 2010; Gathof et al., 1996)
ALLNDG > C320870c.208G>CGly > Arg(Jinnah et al., 2000)
1510, JFLNDG > A320970c.209G>AGly > Glu(Tarle et al., 1991)
955-2, JPLNDG > A320970c.209G>AGly > Glu(Tarle et al., 1991)
JFS, LN120LNDG > A320970c.209G>AGly > Glu(Jinnah et al., 2006)
NALNDG > A320970c.209G>AGly > Glu(Larovere et al., 2007)
New Haven, DGLNDG > A320970c.209G>AGly > Glu(Davidson et al., 1989b)
NSLNDG > A320970c.209G>AGly > Glu(Tohyama et al., 1994)
NSLNDG > A320970c.209G>AGly > Glu(Yamada et al., 2004)
RTLNDG > A320970c.209G>AGly > Glunew
Yale, KTLNDG > C321171c.211G>CGly > Arg(Fujimori et al., 1989a, b)
106/01, Family 20LNDG > A321271c.212G>AGly > Asp(Bertelli et al., 2004; de Gemmis et al., 2010)
DW, SWLNDG > T321271c.212G>TGly > Val(Jinnah et al., 2000)
NSHNDG > T321271c.212G>TGly > Val(Willers et al., 1999)
Madrid I, Case 16-12HNDG > T321271c.212G>TGly > Val(Bouwens-Rombouts et al., 1993; Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000)
NSHNDG > T321271c.212G>TGly > Val(Yamada et al., 2011a)
Tachikawa, HKHRHA > G321572c.215A>GTyr > Cys(Fujimori et al., 1994)
SeoulHRHA > G321572c.215A>GTyr > Cys(Choi et al., 1993; Kim et al., 1997)
Case II.1, II.4HRHA > G321572c.215A>GTyr > Cys(Sebesta et al., 2008)
NSHRHA > G321572c.215A>GTyr > Cys(Yamada et al., 2011a; Yamada et al., 2004)
Family IILNDT > G322074c.220T>GPhe > Val(Jurecka et al., 2008)
LN139F, OLNDT > G322074c.220T>GPhe > Valnew
LN58, SJLNDT > G322174c.221T>GPhe > Cys(Jinnah et al., 2000)
DWLNDC > A322274c.222C>APhe > Leu(Sege-Peterson et al., 1992)
Family IIILNDC > A322274c.222C>APhe > Leu(Jurecka et al., 2008; Popowska et al., 1998)
Perth, BBLNDC > A322274c.222C>APhe > Leu(Sculley et al., 1991)
Flint, RJK 892, ACLNDC > A322274c.222C>APhe > Leu(Davidson et al., 1988b; Gibbs et al., 1989)
1522, GHLNDC > A322274c.222C>APhe > Leu(Tarle et al., 1991)
NSLNDC > A322274c.222C>APhe > Leu(Yamada et al., 2011a)
TaichungLNDC > G322274c.222C>GPhe > Leu(Lee et al., 1995; Mak et al., 2000)
Swan, DWLNVC > G323278c.232C>GLeu > Val(Sculley et al., 1991)
Case #3LNDT > A323378c.233T>ALeu > Gln(Yamada et al., 1992)
Arlington, MS, WBHNDA > T323980c.239A>TAsp > Val(Davidson et al., 1989b; Jinnah et al., 2010)
NSHRHA > G329398c.293A>GAsp > Gly(Wong et al., 2008)
LN139C, H4755, BLNDA > G329398c.293A>GAsp > Glynew
RumaniaHNDT > G329599c.295T>GPhe > Valnew
Family IVHNDT > G329599c.295T>GPhe > Val(Jurecka et al., 2008)
Munich, IVHRHA > G3310104c.310A>GSer > Arg(Wilson et al., 1986; Wilson et al., 1983)
DBHRHC > T4329110c.329C>TSer > Leu(Wilson et al., 1986)
London, GSHRHC > T4329110c.329C>TSer > Leu(Wilson et al., 1986; Wilson et al., 1983)
Family 1HRHA > C4370124c.370A>CThr > Pro(Yamada et al., 2007)
DWHNDC > G4371124c.371C>GThr > Ser(Jinnah et al., 2000)
MCHRHT > C4374125c.374T>CLeu > Sernew
TPLNDG > T4379127c.379G>TGly > Valnew
375 [4]LNDT > A5389130c.389T>AVal > Asp(Tarle et al., 1991)
Midland, RJK 896, JHLNDT > A5389130c.389T>AVal > Asp(Davidson et al., 1988a; Gibbs et al., 1989)
RJK 1784LNDT > C5392131c.392T>CLeu > Ser(Gibbs et al., 1989)
EGLNDT > G5392131c.392T>GLeu > Trpnew
LN-C, LN30, SMLNDT > G5395132c.395T>GIle > Ser(Jinnah et al., 2000)
RuncornNAT > C5395132c.395T>CIle > Thr(Davidson et al., 1991)
Ann Arbor, KC, TCHRHT > G5396132c.396T>GIle > Met(Fujimori et al., 1988; Wilson et al., 1986)
Zaragoza IHRHG > A5397133c.397G>AVal > Met(Jinnah et al., 2010; Puig et al., 2001; Torres et al., 2000)
NSHRHA > T6404135c.404A>TAsp > Val(Willers et al., 1999)
Yeronga, SBLNVA > G6404135c.404A>GAsp > Gly(Sculley et al., 1992)
PAHRHA > G6404135c.404A>GAsp > Glynew
JGLNDT > A6407136c.407T>AIle > Lys(Jinnah et al., 2000)
Marseille,BC;FC;NC;WC;LCHRHT > C6407136c.407T>CIle > Thr(Dussol et al., 2004; Jinnah et al., 2010)
JerusalemHNDT > C6410137c.410T>CIle > Thr(Zoref-Shani et al., 2003, 2004)
NSLNDA > C6415139c.415A>CThr > Pro(Yamada et al., 2008; Yamada et al., 2011a)
2027124, Family 21LNDG > C6418140c.418G>CGly > Arg(Bertelli et al., 2004; de Gemmis et al., 2010)
Tokyo, YYLNDG > A6419140c.419G>AGly > Asp(Fujimori et al., 1992; Fujimori et al., 1991; Fujimori et al., 1994)
Family 32 (LN111, BM)LNDG > A6419140c.419G>AGly > Asp(O'Neill, 2004)
Potenza, LCNAC > T6439147c.439C>TLeu > Phe(Micheli et al., 2002)
NSHNDT > C6440147c.440T>CLeu > Pro(Yamada et al., 2004)
Family 22HNDT > C6440147c.440T>CLeu > Pro(de Gemmis et al., 2010)
NSHNDT > G6449150c.449T>GVal > Gly(Chiong et al., 2006)
Sardinia, Case 33-27HNDC > T6463155c.463C>TPro > Ser(Cossu et al., 2002; Cossu et al., 2006; Jinnah et al., 2010)
Niigata, DSHRHG > T6472158c.472G>TVal > Phe(Fujimori et al., 1994)
NAHRHG > T6472158c.472G>TVal > Phe(Yamada et al., 2011a)
47-07LNDT > G6473158c.473T>GVal > Gly(Corrigan et al., 2011)
NSHNDA > G6475159c.475A>GLys > Glu(Yamada et al., 2004)
NGHNDA > G6475159c.475A>GLys > Glunew
LN167, RTLNDA > C6476159c.476A>CLys > Thrnew
Family VII (patient 9; 10)LNVG > A6481161c.481G>AAla > Thr(Jurecka et al., 2008; Popowska et al., 1998)
Milwaukee, RJK 949, JMHRHG > T6481161c.481G>TAla > Ser(Davidson et al., 1989b; Gibbs et al., 1989)
Family VIIILNDC > A6482161c.482C>AAla > Glu(Jurecka et al., 2008; Popowska et al., 1998)
LN3, CJWLNDC > A6482161c.482C>AAla > Glu(Jinnah et al., 2000)
09-00LNDA > C7484162c.484A>CSer > Arg(Corrigan et al., 2011)
03-meiLNDG > A7485162c.485G>ASer > Asn(Corrigan et al., 2011)
OBHRHG > C7485162c.485G>CSer > Thrnew
FarnhamLNVC > G7486162c.486C>GSer > Arg(Boyd et al., 1993; Davidson et al., 1991)
NSLNDC > G7486162c.486C>GSer > Arg(Yamada et al., 2011a)
73-01LNDT > C7488163c.488T>CLeu > Ser(Corrigan et al., 2011)
III-2, V-2,V-3HNDG > T7500167c.500G>TArg > Met(Sarafoglou et al., 2010)
Case 19-15HNDG > C7500167c.500G>CArg > Thr(Jinnah et al., 2010)
Brisbane, FCHRHC > T7503168c.503C>TThr > Ile(Gordon, 1990)
Family XIHRHC > T7526176c.526C>TPro > Ser(Jurecka et al., 2008; Popowska et al., 1998)
MarlowLNVC > T7527176c.527C>TPro > Leu(Boyd et al., 1993; Davidson et al., 1991)
RJK 2185LNDG > T7529177c.529G>TAsp > Tyr(Gibbs et al., 1990)
NSLNDA > T7530177c.530A>TAsp > Val(Nguyen et al., 2011)
TALNDA > T7530177c.530A>TAsp > Valnew
LN4, LN14, ADCLNDG > A8539180c.539G>AGly > Glu(Jinnah et al., 2000)
LN139A, G8081, JGLNDG > A8539180c.539G>AGly > Glunew
Family 39 (LN102, ME)LNDT > C8541181c.541T>CPhe > Leu(O'Neill, 2004)
LN216, KDLNDT > C8541181c.541T>CPhe > Leunew
1734, BF, JF, Case 15-9HNDT > C8548183c.548T>CIle > Thr(Jinnah 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 > Gly(Ishida et al., 2008; Yamada et al., 2007)
48-99 [5]HRHG > C8558186c.558G>CLys > Asn(Corrigan et al., 2011)
Case #1HNDT > C8563188c.563T>CVal > Ala(Yamada et al., 1991; Yamada et al., 1992)
LN36, JJNLNDG > T8565189c.565G>TVal > Leu(Jinnah et al., 2000)
LN73, ASLNDG > C8568190c.568G>CGly > Arg(Jinnah et al., 2000)
Family XIILNDG > A8569190c.569G>AGly > Glu(Jurecka et al., 2008; Popowska et al., 1998)
Patient 3LNDG > A8569190c.569G>AGly > Glu(Mak et al., 2000)
29-augHRHG > A8574192c.574G>AAla > Thr(Corrigan et al., 2011)
NSHRHC > T8575192c.575C>TAla > Val(Yamada et al., 2004)
07-janHRHC > T8577193c.577C>TLeu > Phe(Corrigan et al., 2011)
JMHNDT > G8579193c.579T>GLeu > Arg(Marcus et al., 1993a)
Kinston, RJK 2188, ESLNDG > A8580194c.580G>AAsp > Asn(Gibbs et al., 1990; Jinnah et al., 2006; Wilson and Kelley, 1983; Wilson and Kish, 1996)
ECLNDG > T8580194c.580G>TAsp > Tyr(Jinnah et al., 2000; Jinnah et al., 2006)
LN46, FDLNDG > C8580194c.580G>CAsp > His(Jinnah et al., 2000)
Moose Jaw, Cases 44-33, 46-33HNDC > G8582194c.582C>GAsp > Glu(Jinnah et al., 2010; Lightfoot et al., 1994)
Case 21-17HNDA > C8584195c.584A>CTyr > Ser(Jinnah et al., 2010; Larovere et al., 2007; Larovere et al., 2004)
Cases 27-22, 35-22HNDA > C8584195c.584A>CTyr > Ser(Jinnah et al., 2010; Larovere et al., 2007; Larovere et al., 2004)
LN203C, NPLNVA > C8584195c.584A>CTyr > Sernew
Dirranbandi, CC [6]LNVA > G8584195c.584A>GTyr > Cys(Sculley et al., 1992)
NSHRHA > G8584195c.584A>GTyr > Cys(Yamada et al., 2004)
NSHNDA > G8586196c.586A>GAsn > Asp(Willers et al., 1999)
58/01, Family 23LNDA > T8590197c.590A>TGlu > Val(Bertelli et al., 2004; de Gemmis et al., 2010)
LN15, BrasilLNDA > T8590197c.590A>TGlu > Val(Jinnah et al., 2000; O'Neill et al., 1999)
New Brighton, RJK 950, ECLNDT > G8595199c.595T>GPhe > Val(Davidson et al., 1989b; Gibbs et al., 1989)
PB;ABLNDT > G8595199c.595T>GPhe > Valnew
LP, Case 38-30HNDT > G8596199c.596T>GPhe > Cys(Ea et al., 2009; Jinnah et al., 2010)
DG;MGHNDC > T8597199c.597C>GPhe > Leunew
BT, LN39, Case 17-13HNDG > C8599200c.599G>CArg > Thr(Hidalgo-Laos et al., 1997; Jinnah et al., 2010)
RB, Case 14-11HNDG > A8601201c.601G>AAsp > Asn(Jinnah et al., 2010; Sege-Peterson et al., 1992)
GMLNDG > T8601201c.601G>TAsp > Tyr(Sege-Peterson et al., 1992)
DBLNDA > T8602201c.602A>TAsp > Val(Jinnah et al., 2000)
Ashville, PCLNVA > G8602201c.602A>GAsp > Gly(Davidson et al., 1989a)
LN206, JF,Case 26-21 [7]HNDA > G8602201c.602A>GAsp > Gly(Jinnah et al., 2010)
27/01, Family 24LNDG > T8606202c.606G>TLeu > Phe(Bertelli et al., 2004; de Gemmis et al., 2010)
H768LNDC > T9610204c.610C>THis > Tyr(Tvrdik et al., 1998)
RJK 1874LNDC > G9610204c.610C>GHis > Asp(Gibbs et al., 1989)
RJK 2079LNDC > G9610204c.610C>GHis > Asp(Gibbs et al., 1989)
Case1, Family 1LNDC > G9610204c.610C>GHis > Asp(Jinnah et al., 2006)
BMLNDA > G9611204c.611A>GHis > Arg(Jinnah et al., 2000)
779, JDLNDA > G9611204c.611A>GHis > Arg(Tarle et al., 1991)
BWLNDA > G9611204c.611A>GHis > Argnew
LN155, KH LNDA > T9611204c.611A>THis > Leunew
ReadingLNDG > A9617206c.617G>ACys > Tyr(Boyd et al., 1993; Davidson et al., 1991)
RJK 1727LNDG > A9617206c.617G>ACys > Tyr(Gibbs et al., 1989)
LN27, AHLNDG > A9635212c.635G>AGly > Glu(Jinnah 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.