LOVD - Variant listings for HGD

About this overview [Show]

174 entries
entries per page

DB-ID Hide DB-ID column Descending
Ascending

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

Original description Hide Original description column Descending
Ascending

Variant remarks Hide Variant remarks column Descending
Ascending

Predicted Mutation Effect** Hide Predicted Mutation Effect** column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Mutation HOT-SPOT Hide Mutation HOT-SPOT column Descending
Ascending

Allele code Hide Allele code column Descending
Ascending

Type Hide Type column Descending
Ascending

Re-site Hide Re-site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Location Hide Location column Descending
Ascending
AKU_00000 00 c.(?)
  (Reported 40 times)
r.(?) p.(?) unknown unknown - de Bernabe et al. (1998) - AKU_DB_11b unknown - - DNA SEQ unknown
AKU_00001 01 c.8A>C r.(?) p.(Glu3Ala) E3A missense unknown Vilboux et al. (2009) - AKU_VIL_93a substitution - - DNA SEQ exon
AKU_00003 01 c.11T>A r.(?) p.(Leu4*) L4* nonsense - Phornphutkul et al. (2002) - AKU_VIL_29a substitution - - DNA SEQ exon
AKU_00002 01 c.11T>C
  (Reported 2 times)
r.(?) p.(Leu4Ser) L4S missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_VIL_30a substitution - - DNA SEQ exon
AKU_00126 01i c.16-175C>G r.(?) p.(?) ivs1-175C>G polymorphism, Rs17140398 - Vilboux et al. (2009) - AKU_POL_20 substitution/polymorphism - 0,234(G) DNA SEQ intron
AKU_00004 01i c.16-1G>A
  (Reported 16 times)
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_22a substitution (-)RsaI - DNA SEQ intron
AKU_00164 02 c.16-272_c.87+305del
  (Reported 4 times)
r.(?) p.(Tyr6_Gln29del) ex2 deletion deletion - Nemethova et al. (2015) - AKU_DB_152a deletion - - DNA SEQ intron/exon
AKU_00005 02 c.31_32delGGinsATT
  (Reported 3 times)
r.(?) p.(Gly11Ilefs*3) G11fs (F10fs) frameshift - de Bernabe et al. (1998) CCC triplet AKU_DB_17a deletion/insertion - - DNA SEQ exon
AKU_00167 02 c.37G>A r.(?) p.(Glu13Lys) E13K missense Hexamer disruption Usher et al. (2015) - AKU_DB_220a substitution - - DNA SEQ exon
AKU_00168 02 c.52G>A r.(?) p.(Asp18Asn) D18N missense Protomer destabilisation, Hexamer disruption Usher et al. (2015) - AKU_DB_217a substitution (+)HinfI,TfiI;(-)BamHI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI - DNA SEQ exon
AKU_00006 02 c.74T>C
  (Reported 4 times)
r.(?) p.(Leu25Pro) L25P missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_FEL_1a substitution (+)FauI, AciI - DNA SEQ exon
AKU_00150 02i c.87+1G>A
  (Reported 16 times)
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_153a substitution - - DNA SEQ intron
AKU_00107 02i c.87+35A>T r.(?) p.(?) ivs2+35A>T polymorphism, Rs2733825 - de Bernabe et al. (1998) - AKU_POL_1 substitution/polymorphism - 0,12(T) DNA SEQ intron
AKU_00127 02i c.87+118A>G r.(?) p.(?) ivs2+118A>G polymorphism, Rs17140396 - Vilboux et al. (2009) - AKU_POL_21 substitution/polymorphism - 0,076(G) DNA SEQ intron
AKU_00108 02i c.88-218A>T r.(?) p.(?) ivs2-218A>T polymorphism - Granadino et al. (1997) - AKU_POL_2 substitution/polymorphism - - DNA SEQ intron
AKU_00007 03 c.98A>G r.(?) p.(Gln33Arg) Q33R missense Hexamer disruption Zatkova et al. (2012) - AKU_DB_100a substitution (+)BsoBI, AvaI - DNA SEQ exon
AKU_00160 03 c.119A>C
  (Reported 2 times)
r.(?) p.(Tyr40Ser) Y40S missense Protomer destabilisation, Hexamer disruption Nemethova et al. (2015) - AKU_DB_192a substitution - - DNA SEQ exon
AKU_00165 03 c.124delG (not c.115delG) r.(?) p.(Glu42Serfs*69) (not p.(Leu39Ser*72) E42fs frameshift - Li et al. (2014) - AKU_DB_201a deletion (+)BfaI, BmtI, Cac8I, NheI;(-)BlpI - DNA SEQ exon
AKU_00008 03 c.125A>C
  (Reported 17 times)
r.(?) p.(Glu42Ala) E42A missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1998) - AKU_DB_8a substitution (+)HhaI, FspI - DNA SEQ exon
AKU_00009 03 c.130C>T
  (Reported 2 times)
r.(?) p.(Leu44Phe) L44F missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_108c substitution (-)AluI - DNA SEQ exon
AKU_00010 03 c.140C>T r.(?) p.(Ser47Leu) S47L missense Hexamer disruption Zatkova et al. (2000a) CpG AKU_DB_57a substitution (-)MboI, AlwI, Sau3AI, DpnI, DpnII - DNA SEQ exon
AKU_00011 03 c.157C>T r.(?) p.(Arg53Trp) R53W missense Protomer destabilisation, Hexamer disruption Rodriguez et al. (2000) CpG AKU_DB_45a substitution (+)NcoI, StyI - DNA SEQ exon
AKU_00152 03 c.158G>A
  (Reported 7 times)
r.(?) p.(Arg53Gln) R53Q missense Hexamer disruption Nemethova et al. (2015); Usher et al. (2015) CpG AKU_DB_169a substitution (-)BsaJI, BtgI - DNA SEQ exon
AKU_00012 03 c.171G>C r.(?) p.(Lys57Asn) K57N missense Protomer destabilisation Grasko et al. (2009) - AKU_GRA_1a substitution (+)AlwNI - DNA SEQ exon
AKU_00013 03 c.175delA
  (Reported 37 times)
r.(?) p.(Ser59Alafs*52) S59fs (R58fs) frameshift - de Bernabe et al. (1999b) - AKU_ABD_1a deletion - - DNA SEQ exon
AKU_00128 03i c.176+114T>A r.(?) p.(?) ivs3+114T>A polymorphism - Vilboux et al. (2009) - AKU_POL_22 substitution/polymorphism - 0,013(A) DNA SEQ intron
AKU_00109 03i c.177-112C>T r.(?) p.(?) ivs3-112C>T polymorphism - AKU database - AKU_POL_3 substitution/polymorphism - 0,45(T) DNA SEQ intron
AKU_00112 03i c.177-52A>C r.(?) p.(?) ivs3-52A>C polymorphism - AKU database - AKU_POL_6 substitution/polymorphism - 0,01(C) DNA SEQ intron
AKU_00111 03i c.177-50C>T r.(?) p.(?) ivs3-50C>T polymorphism - AKU database - AKU_POL_5 substitution/polymorphism - 0,03(T) DNA SEQ intron
AKU_00110 03i c.177-35T>G r.(?) p.(?) ivs3-35T>G polymorphism - AKU database - AKU_POL_4 substitution/polymorphism - 0,01(G) DNA SEQ intron
AKU_00015 03i c.177-2A>G r.(spl?) p.(Trp60Leufs*16) ivs3-2A>G aberrant splicing (AS)/exon skipping/frameshift? - Phornphutkul et al. (2002) - AKU_PHO_4 substitution - - DNA SEQ intron
AKU_00115 04i al.161-163;(CT)n r.(?) p.(?) HGO-1, D3S4496 polymorphism,GDB:5584234/UniSTS:474553 - Granadino et al. (1997) - AKU_POL_9 dinucleotide repeat - 0,89(al.161);0,11(al.163) DNA SEQ intron
AKU_00114 04i al.175-201;(CA)n r.(?) p.(?) HGO-3, D3S4556 polymorphism - de Bernabe et al. (1998) - AKU_POL_8 dinucleotide repeat - 0,208(al.189);0,2(al.193) DNA SEQ intron
AKU_00016 04 c.178T>G
  (Reported 3 times)
r.(?) p.(Trp60Gly) W60G missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1999a) - AKU_DB_23b substitution (+)FauI, AciI; (-)AluI - DNA SEQ exon
AKU_00017 04 c.179G>A
  (Reported 2 times)
r.(?) p.(Trp60*) W60* nonsense - Zatkova et al. (2012) - AKU_DB_107a substitution (+)NheI - DNA SEQ exon
AKU_00018 04 c.182T>C
  (Reported 2 times)
r.(?) p.(Leu61Pro) L61P missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_VIL_16a substitution (+)HaeIII - DNA SEQ exon
AKU_00019 04 c.185A>G
  (Reported 3 times)
r.(?) p.(Tyr62Cys) Y62C missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1999a) - AKU_DB_20a substitution - - DNA SEQ exon
AKU_00020 04 c.217T>C r.(?) p.(Phe73Leu) F73L missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) CCC triplet AKU_VIL_77a substitution - - DNA SEQ exon
AKU_00113 04 c.240A>T r.(?) p.(His80Gln) H80Q polymorphism, Rs2255543 - de Bernabe et al. (1998) - AKU_POL_7 substitution/polymorphism (+)NlaIII 0,22(A) DNA SEQ exon
AKU_00129 04 c.260A>C r.(?) p.(Glu87Ala) E87A missense/polymorphism?, Rs35702995 Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_POL_23 substitution/polymorphism (+)SfaNI - DNA SEQ exon
AKU_00021 04 c.274C>A r.(?) p.(Pro92Thr) P92T missense Hexamer disruption Phornphutkul et al. (2002) - AKU_VIL_40a substitution (-)BsaBI - DNA SEQ exon
AKU_00116 04i c.282+31A>G r.(?) p.(?) ivs4+31A>G polymorphism - de Bernabe et al. (1999b) - AKU_POL_10 substitution/polymorphism - 0,02(G) DNA SEQ intron
AKU_00130 04i c.283-145C>T r.(?) p.(?) ivs4-145C>T polymorphism, Rs35702995 - Vilboux et al. (2009) - AKU_POL_24 substitution/polymorphism - 0,032(T) DNA SEQ intron
AKU_00117 04i c.283-14insA r.(?) p.(?) ivs4-14insA polymorphism - AKU database - AKU_POL_11 insertion - 0,01(A) DNA SEQ intron
AKU_00118 04i c.283-4T>C r.(?) p.(?) ivs4-4T>C aberrant splicing (AS)/exon skipping, polymorphism? - AKU database - AKU_POL_12 substitution - 0,001(C) DNA SEQ intron
AKU_00022 05 c.289T>C
  (Reported 2 times)
r.(?) p.(Trp97Arg) W97R missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_VIL_49a substitution - - DNA SEQ exon
AKU_00023 05 c.289T>G
  (Reported 3 times)
r.(?) p.(Trp97Gly) W97G missense Protomer destabilisation de Bernabe et al. (1998) - AKU_DB_14a substitution (+)MnlI - DNA SEQ exon
AKU_00025 05i c.342+1G>A
  (Reported 6 times)
r.(spl?) p.(Leu95_Ser114del) ivs5+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Muller et al. (1999) c.342+1G AKU_DB_41a substitution - - DNA SEQ intron
AKU_00024 05i c.342+1G>T
  (Reported 9 times)
r.(spl?) p.(Leu95_Ser114del) ivs5+1G>T aberrant splicing (DS)/exon skipping/in frame deletion? - de Bernabe et al. (1998) c.342+1G AKU_DB_9a substitution - - DNA SEQ intron
AKU_00166 05i c.342+3A>C r.(spl?) p.(Leu95_Ser114del) ivs5+3A>C aberrant splicing (DS)/exon skipping/in frame deletion? - Li et al. (2014) - AKU_DB_201b substitution ? - DNA SEQ exon
AKU_00119 05i c.342+25T>C r.(?) p.(?) ivs5+25T>C polymorphism, Rs2551607 - de Bernabe et al. (1998) - AKU_POL_13 substitution/polymorphism - 0,12(C.) DNA SEQ intron
AKU_00146 06 c.343G>C
  (Reported 3 times)
r.(?) p.(Gly115Arg) G115R missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_124a substitution (+)PleI, HinfI - DNA SEQ exon
AKU_00026 06 c.347T>C
  (Reported 3 times)
r.(?) p.(Leu116Pro) L116P missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_112a substitution (+)FauI, AciI - DNA SEQ exon
AKU_00027 06 c.357dupG r.(?) p.(Cys120Valfs*9) C120fs frameshift - Phornphutkul et al. (2002) - AKU_PHO_8 insertion (+)BslI ? - DNA SEQ exon
AKU_00028 06 c.359G>T
  (Reported 15 times)
r.(?) p.(Cys120Phe) C120F missense Protomer destabilisation Vilboux et al. (2009) - AKU_VIL_13a substitution - - DNA SEQ exon
AKU_00029 06 c.360T>G
  (Reported 16 times)
r.(?) p.(Cys120Trp) C120W missense Protomer destabilisation Goicoechea de Jorge et al. (2002) - AKU_DB_73a substitution - - DNA SEQ exon
AKU_00030 06 c.365C>A r.(?) p.(Ala122Asp) A122D missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1999a) - AKU_DB_25a substitution (-)AluI, BpmI - DNA SEQ exon
AKU_00031 06 c.365C>T
  (Reported 14 times)
r.(?) p.(Ala122Val) A122V missense Hexamer disruption Phornphutkul et al. (2002) - AKU_DB_49b substitution (-)AluI, BpmI - DNA SEQ exon
AKU_00032 06 c.367G>A
  (Reported 4 times)
r.(?) p.(Gly123Arg) G123R missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_VIL_87a substitution (-)BpmI - DNA SEQ exon
AKU_00033 06 c.368G>C
  (Reported 10 times)
r.(?) p.(Gly123Ala) G123A missense Protomer destabilisation, Hexamer disruption Zatkova et al. (2012) - AKU_DB_113a substitution (-)BpmI; (+)PstI - DNA SEQ exon
AKU_00034 06 c.376_377delAA
  (Reported 2 times)
r.(?) p.(Lys126Valfs*2) K126fs frameshift - Vilboux et al. (2009) - AKU_VIL_50a deletion (+)Tth111I; (-)AhdI - DNA SEQ exon
AKU_00035 06 c.407T>A r.(?) p.(Phe136Tyr) F136Y missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_PHO_9 substitution - - DNA SEQ exon
AKU_00036 06 c.410T>C
  (Reported 3 times)
r.(?) p.(Leu137Pro) L137P missense Protomer destabilisation Vilboux et al. (2009) - AKU_VIL_17b substitution - - DNA SEQ exon
AKU_00037 06 c.413_434+35del57
  (Reported 2 times)
r.(?) p.(Gly115Metfs*33) G115fs (?), c.413_434+35del57 deletion/exon skipping/frameshift? - Vilboux et al. (2009) - AKU_VIL_20a deletion - - DNA SEQ exon
AKU_00038 06 c.429G>Y (C,T) r.(?) p.(Glu143Asp) E143D polymorphism?/missense; exact nt change was not indicated and not reconstructible unknown Phornphutkul et al. (2002) - AKU_PHO_10 substitution - - DNA SEQ exon
AKU_00039 06 c.433A>T r.(?) p.(Arg145*) R145* nonsense - Phornphutkul et al. (2002) - AKU_PHO_11 substitution - - DNA SEQ exon
AKU_00120 06i c.434+46C>A r.(?) p.(?) ivs6+46C>A polymorphism, Rs3817627 - de Bernabe et al. (1998) - AKU_POL_14 substitution/polymorphism - 0,31(A) DNA SEQ intron
AKU_00155 07 c.440T>C r.(?) p.(Phe147Ser) F147S missense Protomer destabilisation Nemethova et al. (2015) - AKU_DB_180b substitution - - DNA SEQ exon
AKU_00040 07 c.447T>A r.(?) p.(Asn149Lys) N149K missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_VIL_36a substitution - - DNA SEQ exon
AKU_00041 07 c.455G>C r.(?) p.(Gly152Ala) G152A missense Protomer destabilisation, Hexamer disruption Zatkova et al. (2012) CCC triplet AKU_DB_100b substitution (-)BsmFI; (+)AciI - DNA SEQ exon
AKU_00042 07 c.457dupG
  (Reported 29 times)
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_101a insertion - - DNA SEQ exon
AKU_00043 07 c.458A>G
  (Reported 2 times)
r.(?) p.(Asp153Gly) D153G missense Protomer destabilisation de Bernabe et al. (1998) CCC triplet AKU_DB_13a substitution (-)BsmFI - DNA SEQ exon
AKU_00158 07i c.469+1G>C r.(spl?) p.(Arg145Serfs*22) ivs7+1G>C aberrant splicing (DS)/exon skipping, frameshift? - Yang et al. (2013) - AKU_DB_163b substitution - - DNA SEQ intron
AKU_00044 07i c.469+2T>C
  (Reported 5 times)
r.(spl?) p.(Arg145Serfs*22) ivs7+2T>C aberrant splicing (DS)/exon skipping/frameshift? - Phornphutkul et al. (2002) - AKU_DB_96a substitution - - DNA SEQ intron
AKU_00045 07i c.469+5G>A
  (Reported 5 times)
r.(spl?) p.(Arg145Serfs*22) ivs7+5G>A aberrant splicing (DS)/exon skipping/frameshift? - Porfirio et al. (2000) - AKU_DB_27a substitution - - DNA SEQ intron
AKU_00159 07i c.469+6T>C
  (Reported 4 times)
r.(spl?) p.(Arg145Serfs*22) ivs7+6T>C aberrant splicing (DS)/exon skipping, frameshift? - Nemethova et al. (2015) - AKU_DB_186a substitution - - DNA SEQ intron
AKU_00131 07i c.469+24C>A r.(?) p.(?) ivs7+24C>A polymorphism - Vilboux et al. (2009) - AKU_POL_25 substitution/polymorphism - 0,013(A) DNA SEQ intron
AKU_00046 08 c.470-1_470insA r.(?) p.(Val157Aspfs*22) V157fs frameshift - Zatkova et al. (2012) - AKU_DB_110b insertion - - DNA SEQ exon
AKU_00145 08 c.470-1_494del25 r.(?) p.(Val157Glufs*11) V157fs (?), c.470-1_494del25 deletion/exon skipping/frameshift? - Zatkova et al. (2012) - AKU_DB_123b deletion - - DNA SEQ exon
AKU_00047 08 c.473C>G r.(?) p.(Pro158Arg) P158R missense Protomer destabilisation Phornphutkul et al. (2002) CpG AKU_PHO_13 substitution (-)BslI, AciI - DNA SEQ exon
AKU_00048 08 c.473C>T
  (Reported 3 times)
r.(?) p.(Pro158Leu) P158L missense Protomer destabilisation Vilboux et al. (2009) CpG AKU_VIL_3b substitution (+)PstI, SfcI; (-)BslI, AciI - DNA SEQ exon
AKU_00132 08 c.474G>T r.(?) p.(Pro158Pro) P158P polymorphism, Rs2293734 - Vilboux et al. (2009) CpG AKU_POL_26 substitution/polymorphism (+)EcoNI, DdeI, MnlI; (-)AciI - DNA SEQ exon
AKU_00049 08 c.477G>Y (C,T) r.(?) p.(Gln159His) Q159H missense; exact nt change was not indicated and not reconstructible Protomer destabilisation Phornphutkul et al. (2002) - AKU_PHO_14 substitution - - DNA SEQ exon
AKU_00050 08 c.481G>A
  (Reported 83 times)
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_101b substitution (-)BslI - DNA SEQ exon
AKU_00161 08 c.500C>T r.(?) p.(Thr167Ile) T167I missense Hexamer disruption Nemethova et al. (2015) - AKU_TR_0212b substitution - - DNA SEQ exon
AKU_00051 08 c.502G>A
  (Reported 7 times)
r.(?) p.(Glu168Lys) E168K missense Hexamer disruption Higashino et al. (1998) CpG AKU_HIG_1a substitution - - DNA SEQ exon
AKU_00052 08 c.502G>T r.(?) p.(Glu168*) E168* nonsense - Vilboux et al. (2009) CpG AKU_VIL_36b substitution (+)BfaI - DNA SEQ exon
AKU_00053 08 c.504G>C
  (Reported 4 times)
r.(?) p.(Glu168Asp) E168D missense Protomer destabilisation, Hexamer disruption Phornphutkul et al. (2002) CpG AKU_VIL_45a substitution - - DNA SEQ exon
AKU_00144 08 c.507T>G r.(?) p.(Phe169Leu) F169L missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_122b substitution/polymorphism - - DNA SEQ exon
AKU_00054 08 c.513G>T
  (Reported 2 times)
r.(?) p.(Lys171Asn) K171N missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_DB_212a substitution (-)SfaNI - DNA SEQ exon
AKU_00054 08 c.513G>Y (C,T) r.(?) p.(Lys171Asn) K171N missense; exact nt change was not indicated and not reconstructible Protomer destabilisation Phornphutkul et al. (2002) - AKU_PHO_16 substitution (-)SfaNI - DNA SEQ exon
AKU_00169 08 c.515T>C r.(?) p.(Met172Thr) M172T missense Protomer destabilisation Usher et al. (2015) - AKU_DB_207a substitution (+)HgaI;(-)SfaNI - DNA SEQ exon
AKU_00056 08 c.533A>G r.(?) p.(Glu178Gly) E178G missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_93b substitution (+)AlwI; (-)BglII - DNA SEQ exon
AKU_00055 08 c.534G>Y (C,T) r.(?) p.(Glu178Asp) E178D missense; exact nt change was not indicated and not reconstructible Protomer destabilisation Phornphutkul et al. (2002) - AKU_PHO_17 substitution - - DNA SEQ exon
AKU_00057 08 c.541G>T
  (Reported 2 times)
r.(?) p.(Val181Phe) V181F missense Protomer destabilisation Rodriguez et al. (2000) CpG AKU_DB_44a substitution (-)HgaI - DNA SEQ exon
AKU_00058 08 c.549G>T r.(?) p.(Gln183Arg) Q183R missense Protomer destabilisation Vilboux et al. (2009) - AKU_VIL_64a substitution - - DNA SEQ exon
AKU_00059 08i c.549+1G>A r.(spl?) p.(Val156Glufs*11) ivs8+1G>A aberrant splicing (DS)/exon skipping/frameshift? - Vilboux et al. (2009) - AKU_VIL_35a substitution - - DNA SEQ exon
AKU_00106 08i c.549+31C>T r.(?) p.(?) ivs8+31C>T polymorphism - Vilboux et al. (2009) - AKU_POL_35 substitution/polymorphism - 0,006(T) DNA SEQ intron
AKU_00060 08i c.550-2A>C r.(spl?) p.(Arg184Glyfs*12) ivs8-2A>C aberrant splicing (AS)/exon skipping/frameshift? - Phornphutkul et al. (2002) - AKU_PHO_18 substitution - - DNA SEQ intron
AKU_00149 09 c.557T>A r.(?) p.(Met186Lys) M186K missense Protomer destabilisation, Hexamer disruption Nemethova et al. (2015) - AKU_DB_148b substitution (-)BsmI - DNA SEQ exon
1 - 100
[<-] 1 2 [->]


Save Click here to save this list in a tab-delimited text file.

Coding DNA Reference Sequence: NM_000187.3, the first base of the Met-codon is counted as position 1.

Some specific features:
Exon: (00) stands for any exon, it is used in case of unknown mutation; (i) indicates intron.
DNA: (c.?) or wobble code is used when nucleotide change was not known or not indicated
Variant original description: brief name of the mutation; if original description of the mutation was different, it is indicated after comma
Remarks: description of the variant, AS= acceptor site, DS=donor site
Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context
of the molecular interactions of the wild-type residue using mCSM Pires et al. (2014a) and DUET Pires et al. (2014b). Details are downloadable here: TABLE


Allele_code: i.e. patient with the Patient_ID (AKU_AQR_11) has alleles AKU_AQR_11a and AKU_AQR_11b
Restriction site: mutation abolishes (-) or creates (+) specific restriction site
Frequency: of specific polymorphic alleles (AKUdatabase or Vilboux at al. (2009))
Patient_ID: in cases with ID starting with AKU_DB_ we report also HGD haplotypes that can be found in this link: HGD haplotypes associated with AKU mutations
DBID: AKU_00000 is used for alleles with unknown mutation

References:
Aquaron et al. (2009) (not listed in PubMed): Aquaron R, Rodriguez de Cordoba S, Penalva M, Badens C, Roux H:
Alkaptonuria, Ochronosis and Ochronotic Arthropathy in Mainland France and the Reunion Island. A Report of Clinical and Molecular Findings.
Current Rheumatology Reviews, 2009, 5:111-125.

WHEN REFERRING TO THE DATABASE, PLEASE CITE:
Zatkova et al. (2012): Zatkova A, Sedlackova T, Radvansky J, Polakova H, Nemethova M, Aquaron R, Dursun I, Usher JL, Kadasi L:
Identification of eleven novel homogentisate 1,2 dioxygenase (HGD) variants in alkaptonuria (AKU) patients and establishment of a novel LOVD based HGD mutation database.
JIMD Reports, 2012, Volume 4, 55-65, DOI: 10.1007/8904_2011_68

Legend: [ HGD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
HGD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Original description: Variant_original_description Variant remarks: Variant remarks Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context of the molecular interactions of the wild-type residue using mCSM and DUET. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Mutation HOT-SPOT: mutation_HOT_SPOT Allele code: Allele_code Type: Type of variant at DNA level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Location: Variant location at DNA level.