LOVD - Variant listings for HGD

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+/? AKU_00000 00 c.(?)
    + c.650-56G>A
r.(?) p.(?) unknown unknown - de Bernabe et al. (1998) - AKU_DB_11b unknown - - DNA SEQ unknown AKU_DB_11 AKU de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France/Italy 2 1
+/? AKU_00000 00 c.(?)
    + c.647T>C
r.(?) p.(?) unknown unknown - de Bernabe et al. (1998) - AKU_DB_12b unknown - - DNA SEQ unknown AKU_DB_12 AKU de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Spain 1 1
+/? AKU_00000 00 c.(?)
    + c.458A>G
r.(?) p.(?) unknown unknown - AKU database - AKU_DB_13b unknown - - DNA SEQ unknown AKU_DB_13 AKU de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
+/? AKU_00000 00 c.(?)
    + c.31_32delGGinsATT
r.(?) p.(?) unknown unknown - de Bernabe et al. (1998) - AKU_DB_17b unknown - - DNA SEQ unknown AKU_DB_17 AKU de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France/Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.873C>A
r.(?) p.(?) unknown unknown - AKU database - AKU_DB_21b unknown - - DNA SEQ unknown AKU_DB_21 AKU de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Spain 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - AKU database - AKU_DB_26a unknown - - DNA SEQ unknown AKU_DB_26 AKU AKU database, Slovakia (Slovak Republic):Bratislava ? 1 Spain 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - AKU database - AKU_DB_26b unknown - - DNA SEQ unknown AKU_DB_26 AKU AKU database, Slovakia (Slovak Republic):Bratislava ? 1 Spain 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - AKU database - AKU_DB_32a unknown - - DNA SEQ unknown AKU_DB_32 AKU AKU database, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - AKU database - AKU_DB_32b unknown - - DNA SEQ unknown AKU_DB_32 AKU AKU database, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
+/? AKU_00000 00 c.(?)
    + c.1221G>A
r.(?) p.(?) unknown unknown - AKU database - AKU_DB_42b unknown - - DNA SEQ unknown AKU_DB_42 AKU Ladjouze-Rezig et al. (2006), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Algeria 1 1
+/? AKU_00000 00 c.(?)
    + c.1102A>G
r.(?) p.(?) unknown unknown - AKU database - AKU_DB_82b unknown - - DNA SEQ unknown AKU_DB_82 AKU AKU database, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
+/? AKU_00000 00 c.(?)
    + c.652delG
r.(?) p.(?) unknown unknown - Rodriguez et al. (2000) - AKU_DB_83b unknown - - DNA SEQ unknown AKU_DB_83 AKU Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Algeria 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Mannoni et al. (2004) - AKU_MAN_3a unknown - - DNA SEQ unknown AKU_MAN_3 AKU Mannoni et al. (2004), Slovakia (Slovak Republic):Bratislava ? 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Mannoni et al. (2004) - AKU_MAN_3b unknown - - DNA SEQ unknown AKU_MAN_3 AKU Mannoni et al. (2004), Slovakia (Slovak Republic):Bratislava ? 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Mannoni et al. (2004) - AKU_MAN_4a unknown - - DNA SEQ unknown AKU_MAN_4 AKU Mannoni et al. (2004), Slovakia (Slovak Republic):Bratislava ? 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Mannoni et al. (2004) - AKU_MAN_4b unknown - - DNA SEQ unknown AKU_MAN_4 AKU Mannoni et al. (2004), Slovakia (Slovak Republic):Bratislava ? 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.481G>A
r.(?) p.(?) unknown unknown - Muller et al. (1999) - AKU_MUL_6b unknown - - DNA SEQ unknown AKU_MUL_6 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Czech republic 1 1
+/? AKU_00000 00 c.(?)
    + c.274C>A
r.(?) p.(?) unknown unknown - Vilboux et al. (2009) - AKU_VIL_40b unknown - - DNA SEQ unknown AKU_VIL_40 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/? AKU_00000 00 c.(?)
    + c.185A>G
r.(?) p.(?) unknown unknown - Vilboux et al. (2009) - AKU_VIL_41b unknown - - DNA SEQ unknown AKU_VIL_41 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/? AKU_00000 00 c.(?)
    + c.178T>G
r.(?) p.(?) unknown unknown - Vilboux et al. (2009) - AKU_VIL_52b unknown - - DNA SEQ unknown AKU_VIL_52 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/? AKU_00000 00 c.(?)
    + c.1102A>G
r.(?) p.(?) unknown unknown - Vilboux et al. (2009) - AKU_VIL_69b unknown - - DNA SEQ unknown AKU_VIL_69 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/? AKU_00000 00 c.(?)
    + c.1102A>G
r.(?) p.(?) unknown unknown - Vilboux et al. (2009) - AKU_VIL_91b unknown - - DNA SEQ unknown AKU_VIL_91 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Aquaron et al. 2009 - AKU_AQR_11a unknown - - DNA SEQ unknown AKU_AQR_11 AKU Aquaron et al. (2009), Slovakia (Slovak Republic):Bratislava ? 1 France 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Aquaron et al. 2009 - AKU_AQR_11b unknown - - DNA SEQ unknown AKU_AQR_11 AKU Aquaron et al. (2009), Slovakia (Slovak Republic):Bratislava ? 1 France 1 1
+/? AKU_00000 00 c.(?)
    + c.1102A>G
r.(?) p.(?) unknown unknown - Aquaron et al. 2009 - AKU_AQR_19b unknown - - DNA SEQ unknown AKU_AQR_19 AKU Aquaron et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Switzerland/Belgium 1 1
+/? AKU_00000 00 c.(?)
    + c.899T>G
r.(?) p.(?) unknown unknown - Zatkova et al. (2012) - AKU_DB_131b unknown - - DNA SEQ unknown AKU_DB_131 AKU Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/? AKU_00000 00 c.(?)
    + c.367G>A
r.(?) p.(?) unknown unknown - Zatkova et al. (2012) - AKU_DB_132b unknown - - DNA SEQ unknown AKU_DB_132 AKU Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/? AKU_00000 00 c.(?)
    + c.365C>T
r.(?) p.(?) unknown unknown - Nemethova et al. (2015) - AKU_DB_145b unknown - - DNA SEQ unknown AKU_DB_145 AKU Nemethova et al. (2015), Jordan:Karak Compound heterozygous 1 Jordan 2 1
+/? AKU_00000 00 c.(?)
    + c.87+1G>A
r.(?) p.(?) unknown unknown - Sakthivel et al. (2014) - AKU_DB_157b unknown - - DNA SEQ unknown AKU_DB_157 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 India 1 1
+/? AKU_00000 00 c.(?)
    + c.87+1G>A
r.(?) p.(?) unknown unknown - Sakthivel et al. (2014) - AKU_DB_158b unknown - - DNA SEQ unknown AKU_DB_158 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 India 1 1
+/? AKU_00000 00 c.(?)
    + c.469+2T>C
r.(?) p.(?) unknown unknown - Nemethova et al. (2015) - AKU_DB_170b unknown - - DNA SEQ unknown AKU_DB_170 AKU Nemethova et al. (2015), Italy:Roma Compound heterozygous 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Nemethova et al. (2015) - AKU_DB_172a unknown - - DNA SEQ unknown AKU_DB_172 AKU Nemethova et al. (2015), Italy:Florence Compound heterozygous 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Nemethova et al. (2015) - AKU_DB_172b unknown - - DNA SEQ unknown AKU_DB_172 AKU Nemethova et al. (2015), Italy:Florence Compound heterozygous 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Nemethova et al. (2015) - AKU_DB_177a unknown - - DNA SEQ unknown AKU_DB_177 AKU Nemethova et al. (2015), Italy:Florence Compound heterozygous 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.(?)
r.(?) p.(?) unknown unknown - Nemethova et al. (2015) - AKU_DB_177b unknown - - DNA SEQ unknown AKU_DB_177 AKU Nemethova et al. (2015), Italy:Florence Compound heterozygous 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.752G>A
r.(?) p.(?) unknown unknown - Nemethova et al. (2015) - AKU_DB_189b unknown - - DNA SEQ unknown AKU_DB_189 AKU Nemethova et al. (2015), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Italy 1 1
+/? AKU_00000 00 c.(?)
    + c.808G>A
r.(?) p.(?) unknown unknown - Nemethova et al. (2015) - AKU_DB_196b unknown - - DNA SEQ unknown AKU_DB_196 AKU Nemethova et al. (2015), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/? AKU_00000 00 c.(?)
    + c.664_674dup11
r.(?) p.(?) unknown unknown - Usher et al. (2015) - AKU_DB_219a unknown - - DNA SEQ unknown AKU_DB_219 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/? AKU_00000 00 c.(?)
    + c.125A>C
r.(?) p.(?) unknown unknown - Usher et al. (2015) - AKU_DB_223a unknown - - DNA SEQ unknown AKU_DB_223 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+? AKU_00001 01 c.8A>C
    + c.773A>C, c.914C>T
r.(?) p.(Glu3Ala) E3A missense unknown Vilboux et al. (2009) - AKU_VIL_93a substitution - - DNA SEQ exon AKU_VIL_93 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00003 01 c.11T>A
    + c.1102A>G
r.(?) p.(Leu4*) L4* nonsense - Phornphutkul et al. (2002) - AKU_VIL_29a substitution - - DNA SEQ exon AKU_VIL_29 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+? AKU_00002 01 c.11T>C
    + c.359G>T
r.(?) p.(Leu4Ser) L4S missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_VIL_30a substitution - - DNA SEQ exon AKU_VIL_30 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+? AKU_00002 01 c.11T>C
    + c.359G>T
r.(?) p.(Leu4Ser) L4S missense Protomer destabilisation Phornphutkul et al. (2002) - AKU_VIL_32a substitution - - DNA SEQ exon AKU_VIL_32 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
-?/? 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_POL_20 - Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava - 1 - 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.1188+1G>T
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_DB_22 AKU de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Poland 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.16-1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_43a substitution (-)RsaI - DNA SEQ intron AKU_DB_43 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Algeria 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.16-1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_43b substitution (-)RsaI - DNA SEQ intron AKU_DB_43 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Algeria 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.481G>A
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_53c substitution (-)RsaI - DNA SEQ intron AKU_DB_53 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 7 1
+/+ AKU_00004 01i c.16-1G>A
    + c.1111dupC
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_54a substitution (-)RsaI - DNA SEQ intron AKU_DB_54 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.457dupG
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_71a substitution (-)RsaI - DNA SEQ intron AKU_DB_71 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.481G>A
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_MUL_4b substitution (-)RsaI - DNA SEQ intron AKU_MUL_4 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Czech republic 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.481G>A
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_MUL_5a substitution (-)RsaI - DNA SEQ intron AKU_MUL_5 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Czech republic 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.899T>G
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_SRS_13b substitution (-)RsaI - DNA SEQ intron AKU_SRS_13 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00004 01i c.16-1G>A
    + c.481G>A
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_SRS_3b substitution (-)RsaI - DNA SEQ intron AKU_SRS_3 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.481G>A
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_VIL_57a substitution (-)RsaI - DNA SEQ intron AKU_VIL_57 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.481G>A, c.1017_1019delGAGinsTA
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_VIL_94a substitution (-)RsaI - DNA SEQ intron AKU_VIL_94 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00004 01i c.16-1G>A
    + c.365C>T
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_140b substitution (-)RsaI - DNA SEQ intron AKU_DB_140 AKU Zatkova et al. (2012), Jordan:Karak Compound heterozygous 1 Jordan 2 1
+/+ AKU_00004 01i c.16-1G>A
    + c.16-1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_146a substitution (-)RsaI - DNA SEQ intron AKU_DB_146 AKU Nemethova et al. (2015), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 2 1
+/+ AKU_00004 01i c.16-1G>A
    + c.16-1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_146b substitution (-)RsaI - DNA SEQ intron AKU_DB_146 AKU Nemethova et al. (2015), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 2 1
+/+ AKU_00004 01i c.16-1G>A
    + c.1102A>G
r.(spl?) p.(Tyr6_Gln29del) ivs1-1G>A aberrant splicing (AS)/exon skipping/in frame deletion? - Muller et al. (1999) - AKU_DB_205a substitution (-)RsaI - DNA SEQ intron AKU_DB_205 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+ AKU_00164 02 c.16-272_c.87+305del
    + c.16-272_c.87+305del
r.(?) p.(Tyr6_Gln29del) ex2 deletion deletion - Nemethova et al. (2015) - AKU_DB_152a deletion - - DNA SEQ intron/exon AKU_DB_152 AKU Habbal et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 Lebanon 1 1
+/+ AKU_00164 02 c.16-272_c.87+305del
    + c.16-272_c.87+305del
r.(?) p.(Tyr6_Gln29del) ex2 deletion deletion - Habbal et al. (2014) - AKU_DB_152b deletion - - DNA SEQ intron/exon AKU_DB_152 AKU Habbal et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 Lebanon 1 1
+/? AKU_00164 02 c.16-272_c.87+305del
    + c.16-272_c.87+305del
r.(?) p.(Tyr6_Gln29del) ex2 deletion deletion - Habbal et al. (2014) - AKU_DB_160a deletion - - DNA SEQ intron/exon AKU_DB_160 AKU Nemethova et al. (2015), Slovakia (Slovak Republic):Bratislava Homozygot 1 Israel 1 1
+/? AKU_00164 02 c.16-272_c.87+305del
    + c.16-272_c.87+305del
r.(?) p.(Tyr6_Gln29del) ex2 deletion deletion - Habbal et al. (2014) - AKU_DB_160b deletion - - DNA SEQ intron/exon AKU_DB_160 AKU Nemethova et al. (2015), Slovakia (Slovak Republic):Bratislava Homozygot 1 Israel 1 1
+/+ AKU_00005 02 c.31_32delGGinsATT
    + c.(?)
r.(?) p.(Gly11Ilefs*3) G11fs (F10fs) frameshift - de Bernabe et al. (1998) CCC triplet AKU_DB_17a deletion/insertion - - DNA SEQ exon AKU_DB_17 AKU de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France/Italy 1 1
+/+ AKU_00005 02 c.31_32delGGinsATT
    + c.31_32delGGinsATT
r.(?) p.(Gly11Ilefs*3) G11fs (F10fs) frameshift - de Bernabe et al. (1998) CCC triplet AKU_DB_143a deletion/insertion - - DNA SEQ exon AKU_DB_143 AKU Nemethova et al. (2015), Slovakia (Slovak Republic):Bratislava Homozygot 1 Italy 1 1
+/+ AKU_00005 02 c.31_32delGGinsATT
    + c.31_32delGGinsATT
r.(?) p.(Gly11Ilefs*3) G11fs (F10fs) frameshift - de Bernabe et al. (1998) CCC triplet AKU_DB_143b deletion/insertion - - DNA SEQ exon AKU_DB_143 AKU Nemethova et al. (2015), Slovakia (Slovak Republic):Bratislava Homozygot 1 Italy 1 1
+/+? AKU_00167 02 c.37G>A
    + c.733G>T
r.(?) p.(Glu13Lys) E13K missense Hexamer disruption Usher et al. (2015) - AKU_DB_220a substitution - - DNA SEQ exon AKU_DB_220 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+? AKU_00168 02 c.52G>A
    + c.175delA
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_DB_217 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+? AKU_00006 02 c.74T>C
    + c.74T>C
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_FEL_1 AKU Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+? AKU_00006 02 c.74T>C
    + c.74T>C
r.(?) p.(Leu25Pro) L25P missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_FEL_1b substitution (+)FauI, AciI - DNA SEQ exon AKU_FEL_1 AKU Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+? AKU_00006 02 c.74T>C
    + c.74T>C
r.(?) p.(Leu25Pro) L25P missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_GEH_1a substitution (+)FauI, AciI - DNA SEQ exon AKU_GEH_1 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+? AKU_00006 02 c.74T>C
    + c.74T>C
r.(?) p.(Leu25Pro) L25P missense Protomer destabilisation, Hexamer disruption Felbor et al. (1999) CCC triplet AKU_GEH_1b substitution (+)FauI, AciI - DNA SEQ exon AKU_GEH_1 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Homozygot 1 Germany 1 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
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_DB_153 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 4 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_153b substitution - - DNA SEQ intron AKU_DB_153 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 4 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_154a substitution - - DNA SEQ intron AKU_DB_154 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 2 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_154b substitution - - DNA SEQ intron AKU_DB_154 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 2 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_155a substitution - - DNA SEQ intron AKU_DB_155 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 2 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_155b substitution - - DNA SEQ intron AKU_DB_155 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 2 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_156a substitution - - DNA SEQ intron AKU_DB_156 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 2 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_156b substitution - - DNA SEQ intron AKU_DB_156 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 2 1
+/+ AKU_00150 02i c.87+1G>A
    + c.(?)
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_157a substitution - - DNA SEQ intron AKU_DB_157 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 India 1 1
+/+ AKU_00150 02i c.87+1G>A
    + c.(?)
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_158a substitution - - DNA SEQ intron AKU_DB_158 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 India 1 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_159a substitution - - DNA SEQ intron AKU_DB_159 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 1 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_159b substitution - - DNA SEQ intron AKU_DB_159 AKU Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava Homozygot 1 India 1 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_184a substitution - - DNA SEQ intron AKU_DB_184 AKU Nemethova et al. (2015), India:Vellore Homozygot 1 India 5 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_184b substitution - - DNA SEQ intron AKU_DB_184 AKU Nemethova et al. (2015), India:Vellore Homozygot 1 India 5 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_185a substitution - - DNA SEQ intron AKU_DB_185 AKU Nemethova et al. (2015), India:Vellore Homozygot 1 India 5 1
+/+ AKU_00150 02i c.87+1G>A
    + c.87+1G>A
r.(spl?) p.(Tyr6_Gln29del) ivs2+1G>A aberrant splicing (DS)/exon skipping/in frame deletion? - Sakthivel et al. (2014) - AKU_DB_185b substitution - - DNA SEQ intron AKU_DB_185 AKU Nemethova et al. (2015), India:Vellore Homozygot 1 India 5 1
-?/? 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_POL_1 - de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava - 1 - 1 1
-?/? 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_POL_21 - Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava - 1 - 1 1
-?/? 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_POL_2 - Granadino et al. (1997), Slovakia (Slovak Republic):Bratislava - 1 - 1 1
+/+ AKU_00014 03 c.(?) r.(?) p.(Ser59*) S59* nonsense - Phornphutkul et al. (2002) - AKU_PHO_3 unknown - - DNA SEQ exon AKU_PHO_3 AKU Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava ? 1 USA 1 1
+/+? AKU_00007 03 c.98A>G
    + c.455G>C
r.(?) p.(Gln33Arg) Q33R missense Hexamer disruption Zatkova et al. (2012) - AKU_DB_100a substitution (+)BsoBI, AvaI - DNA SEQ exon AKU_DB_100 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 South Korea 1 1
+/+ AKU_00160 03 c.119A>C
    + c.119A>C
r.(?) p.(Tyr40Ser) Y40S missense Protomer destabilisation, Hexamer disruption Nemethova et al. (2015) - AKU_DB_192a substitution - - DNA SEQ exon AKU_DB_192 AKU Nemethova et al. (2015), Italy:Roma Homozygot 1 Italy 1 1
+/+ AKU_00160 03 c.119A>C
    + c.119A>C
r.(?) p.(Tyr40Ser) Y40S missense Protomer destabilisation, Hexamer disruption Nemethova et al. (2015) - AKU_DB_192b substitution - - DNA SEQ exon AKU_DB_192 AKU Nemethova et al. (2015), Italy:Roma Homozygot 1 Italy 1 1
+/+ AKU_00165 03 c.124delG (not c.115delG)
    + c.342+3A>C
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_DB_201 AKU Li et al. (2014), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 China 1 1
+/+ AKU_00008 03 c.125A>C
    + c.125A>C
r.(?) p.(Glu42Ala) E42A missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1998) - AKU_DB_8a substitution (+)HhaI, FspI - DNA SEQ exon AKU_DB_8 AKU de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava Homozygot 1 United Kingdom 1 1
+/+ AKU_00008 03 c.125A>C
    + c.125A>C
r.(?) p.(Glu42Ala) E42A missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1998) - AKU_DB_8b substitution (+)HhaI, FspI - DNA SEQ exon AKU_DB_8 AKU de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava Homozygot 1 United Kingdom 1 1
+/+ AKU_00008 03 c.125A>C
    + c.125A>C
r.(?) p.(Glu42Ala) E42A missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1998) - AKU_VIL_22a substitution (+)HhaI, FspI - DNA SEQ exon AKU_VIL_22 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Homozygot 1 USA 1 1
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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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Geographic origin: Geographic origin of patient Patient/Affected_per_Family: Number of patients per family Families Patients: test