LOVD - Variant listings for HGD

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+/+ AKU_00050 08 c.481G>A
    + c.457dupG
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_101b substitution (-)BslI - DNA SEQ exon AKU_DB_101 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.899T>G
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_102a substitution (-)BslI - DNA SEQ exon AKU_DB_102 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_104a substitution (-)BslI - DNA SEQ exon AKU_DB_104 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 4 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_104b substitution (-)BslI - DNA SEQ exon AKU_DB_104 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 4 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_104c substitution (-)BslI - DNA SEQ exon AKU_DB_104 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 4 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_104d substitution (-)BslI - DNA SEQ exon AKU_DB_104 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 4 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_105a substitution (-)BslI - DNA SEQ exon AKU_DB_105 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_105b substitution (-)BslI - DNA SEQ exon AKU_DB_105 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_106a substitution (-)BslI - DNA SEQ exon AKU_DB_106 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_106b substitution (-)BslI - DNA SEQ exon AKU_DB_106 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.470-1_470insA
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_110a substitution (-)BslI - DNA SEQ exon AKU_DB_110 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France/Serbia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.342+1G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_41b substitution (-)BslI - DNA SEQ exon AKU_DB_41 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.157C>T
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_45b substitution (-)BslI - DNA SEQ exon AKU_DB_45 AKU Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.16-1G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_53d substitution (-)BslI - DNA SEQ exon AKU_DB_53 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 7 1
+/+ AKU_00050 08 c.481G>A
    + c.140C>T
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_57b substitution (-)BslI - DNA SEQ exon AKU_DB_57 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.457dupG
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_58b substitution (-)BslI - DNA SEQ exon AKU_DB_58 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.808G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_59a substitution (-)BslI - DNA SEQ exon AKU_DB_59 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.457dupG
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_61b substitution (-)BslI - DNA SEQ exon AKU_DB_61 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_62a substitution (-)BslI - DNA SEQ exon AKU_DB_62 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_62b substitution (-)BslI - DNA SEQ exon AKU_DB_62 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_63a substitution (-)BslI - DNA SEQ exon AKU_DB_63 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 2 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_63b substitution (-)BslI - DNA SEQ exon AKU_DB_63 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 2 1
+/+ AKU_00050 08 c.481G>A
    + c.808G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_67a substitution (-)BslI - DNA SEQ exon AKU_DB_67 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_81a substitution (-)BslI - DNA SEQ exon AKU_DB_81 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Poland 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_81b substitution (-)BslI - DNA SEQ exon AKU_DB_81 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Poland 1 1
+/+ AKU_00050 08 c.481G>A
    + c.533A>G
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_93a substitution (-)BslI - DNA SEQ exon AKU_DB_93 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1102A>G
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_94a substitution (-)BslI - DNA SEQ exon AKU_DB_94 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.342+1G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_MUL_1b substitution (-)BslI - DNA SEQ exon AKU_MUL_1 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Czech republic 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1102A>G
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_MUL_3b substitution (-)BslI - DNA SEQ exon AKU_MUL_3 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany 1 1
+/+ AKU_00050 08 c.481G>A
    + c.16-1G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_MUL_4a substitution (-)BslI - DNA SEQ exon AKU_MUL_4 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Czech republic 1 1
+/+ AKU_00050 08 c.481G>A
    + c.16-1G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_MUL_5b substitution (-)BslI - DNA SEQ exon AKU_MUL_5 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Czech republic 1 1
+/+ AKU_00050 08 c.481G>A
    + c.(?)
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_MUL_6a substitution (-)BslI - DNA SEQ exon AKU_MUL_6 AKU Muller et al. (1999), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Czech republic 1 1
+/+ AKU_00050 08 c.481G>A
    + c.457dupG
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_14a substitution (-)BslI - DNA SEQ exon AKU_SRS_14 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_15a substitution (-)BslI - DNA SEQ exon AKU_SRS_15 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_15b substitution (-)BslI - DNA SEQ exon AKU_SRS_15 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1111dupC
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_17a substitution (-)BslI - DNA SEQ exon AKU_SRS_17 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.175delA
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_19a substitution (-)BslI - DNA SEQ exon AKU_SRS_19 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.899T>G
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_2a substitution (-)BslI - DNA SEQ exon AKU_SRS_2 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_20a substitution (-)BslI - DNA SEQ exon AKU_SRS_20 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_20b substitution (-)BslI - DNA SEQ exon AKU_SRS_20 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_21a substitution (-)BslI - DNA SEQ exon AKU_SRS_21 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_21b substitution (-)BslI - DNA SEQ exon AKU_SRS_21 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.16-1G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_3a substitution (-)BslI - DNA SEQ exon AKU_SRS_3 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_8a substitution (-)BslI - DNA SEQ exon AKU_SRS_8 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_8b substitution (-)BslI - DNA SEQ exon AKU_SRS_8 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1111dupC
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_SRS_9a substitution (-)BslI - DNA SEQ exon AKU_SRS_9 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TOT_1a substitution (-)BslI - DNA SEQ exon AKU_TOT_1 AKU Toth et al. (2010), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia/Hungary 3 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TOT_1b substitution (-)BslI - DNA SEQ exon AKU_TOT_1 AKU Toth et al. (2010), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia/Hungary 3 1
+/+ AKU_00050 08 c.481G>A
    + c.1102A>G
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_12a substitution (-)BslI - DNA SEQ exon AKU_VIL_12 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.175delA
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_2b substitution (-)BslI - DNA SEQ exon AKU_VIL_2 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.559C>G
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_23a substitution (-)BslI - DNA SEQ exon AKU_VIL_23 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.457dupG
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_38b substitution (-)BslI - DNA SEQ exon AKU_VIL_38 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_43a substitution (-)BslI - DNA SEQ exon AKU_VIL_43 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Homozygot 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_43b substitution (-)BslI - DNA SEQ exon AKU_VIL_43 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Homozygot 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.962G>A (C?)
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_53a substitution (-)BslI - DNA SEQ exon AKU_VIL_53 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.16-1G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_57b substitution (-)BslI - DNA SEQ exon AKU_VIL_57 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.688C>T
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_79a substitution (-)BslI - DNA SEQ exon AKU_VIL_79 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.16-1G>A, c.1017_1019delGAGinsTA
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_94b substitution (-)BslI - DNA SEQ exon AKU_VIL_94 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_ZAT_1a substitution (-)BslI - DNA SEQ exon AKU_ZAT_1 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_ZAT_1b substitution (-)BslI - DNA SEQ exon AKU_ZAT_1 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.808G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_115a substitution (-)BslI - DNA SEQ exon AKU_DB_115 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_127a substitution (-)BslI - DNA SEQ exon AKU_DB_127 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_127b substitution (-)BslI - DNA SEQ exon AKU_DB_127 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_128a substitution (-)BslI - DNA SEQ exon AKU_DB_128 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_128a substitution (-)BslI - DNA SEQ exon AKU_DB_128 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_135a substitution (-)BslI - DNA SEQ exon AKU_DB_135 AKU Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_135b substitution (-)BslI - DNA SEQ exon AKU_DB_135 AKU Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool Homozygot 1 United Kingdom 1 1
+/+ AKU_00050 08 c.481G>A
    + c.674G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_136a substitution (-)BslI - DNA SEQ exon AKU_DB_136 AKU Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+ AKU_00050 08 c.481G>A
    + c.175delA
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_137b substitution (-)BslI - DNA SEQ exon AKU_DB_137 AKU Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1111dupC
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_142b substitution (-)BslI - DNA SEQ exon AKU_DB_142 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00050 08 c.481G>A
    + c.1111dupC
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_149a substitution (-)BslI - DNA SEQ exon AKU_DB_149 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.808G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_150a substitution (-)BslI - DNA SEQ exon AKU_DB_150 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1201G>C
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_165a substitution (-)BslI - DNA SEQ exon AKU_DB_165 AKU Nemethova et al. (2016), Italy:Roma Compound heterozygous 1 Italy 1 1
+/+ AKU_00050 08 c.481G>A
    + c.440T>C
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_180a substitution (-)BslI - DNA SEQ exon AKU_DB_180 AKU Nemethova et al. (2016), France:Marseilles Compound heterozygous 1 France 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1102A>G
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_188a substitution (-)BslI - DNA SEQ exon AKU_DB_188 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Germany 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_190a substitution (-)BslI - DNA SEQ exon AKU_DB_190 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Homozygot 1 Italy 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_190b substitution (-)BslI - DNA SEQ exon AKU_DB_190 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Homozygot 1 Italy 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_161a substitution (-)BslI - DNA SEQ exon AKU_DB_161 AKU Nemethova et al. (2016), Lithuania:Vilnius Homozygot 1 Lithuania 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_161b substitution (-)BslI - DNA SEQ exon AKU_DB_161 AKU Nemethova et al. (2016), Lithuania:Vilnius Homozygot 1 Lithuania 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_162a substitution (-)BslI - DNA SEQ exon AKU_DB_162 AKU Nemethova et al. (2016), Lithuania:Vilnius Homozygot 1 Lithuania 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_162b substitution (-)BslI - DNA SEQ exon AKU_DB_162 AKU Nemethova et al. (2016), Lithuania:Vilnius Homozygot 1 Lithuania 1 1
+/+ AKU_00050 08 c.481G>A
    + c.500C>T
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR_0212a substitution (-)BslI - DNA SEQ exon AKU_TR_0212 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00050 08 c.481G>A
    + c.125A>C
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_221b substitution (-)BslI - DNA SEQ exon AKU_DB_221 AKU Usher et al. (2015), United Kingdom (Great Britain):Liverpool Compound heterozygous 1 United Kingdom 1 1
+/+ AKU_00050 08 c.481G>A
    + c.454G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0257a substitution (-)BslI - DNA SEQ exon AKU_TR2_0257 AKU submitted, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Austria 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1115_1117delGAC
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0127a substitution (-)BslI - DNA SEQ exon AKU_TR2_0127 AKU submitted, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Poland 1 1
+/+ AKU_00050 08 c.481G>A
    + c.449C>T
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0105a substitution (-)BslI - DNA SEQ exon AKU_TR2_0105 AKU submitted, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Sweeden 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1037T>C
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0311b substitution (-)BslI - DNA SEQ exon AKU_TR2_0311 AKU submitted, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
+/+ AKU_00050 08 c.481G>A
    + c.1037T>C
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0330a substitution (-)BslI - DNA SEQ exon AKU_TR2_0330 AKU submitted, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
+/+ AKU_00050 08 c.481G>A
    + c.680T>C
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_235a substitution (-)BslI - DNA SEQ exon AKU_DB_235 AKU submitted, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Italy 1 1
+/+ AKU_00050 08 c.481G>A
    + c.440T>C
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_TR2_0318a substitution (-)BslI - DNA SEQ exon AKU_TR2_0318 AKU submitted, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_236a substitution (-)BslI - DNA SEQ exon AKU_DB_236 AKU submitted, Slovakia (Slovak Republic):Bratislava Homozygot 1 Italy 2 1
+/+ AKU_00050 08 c.481G>A
    + c.481G>A
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_236b substitution (-)BslI - DNA SEQ exon AKU_DB_236 AKU submitted, Slovakia (Slovak Republic):Bratislava Homozygot 1 Italy 2 1
+/+ AKU_00050 08 c.481G>A
    + c.457dupG
r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_241a substitution (-)BslI - DNA SEQ exon AKU_DB_241 AKU submitted, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
1 - 93

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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. DOI:10.2174/157339709788298419
Cho end Kim (2018) (not listed in PubMed): Cho, SY and Kim, JH:
Identification of HGD mutations in an alkaptonuria patient:using the internet to seek rare disease. J Genet Med, 2018, 15:17-19.
https://doi.org/10.5734/JGM.2018.15.1.17

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