Supplementary Table 2.
Allelic associations of all HGD mutations found so far in Slovakia (A) and of novel mutations identified in the present study (B). All haplotypes are compared to those described so far. Differences in the haplotypes are indicated by color. The AKU allele code serves for identification of each allele in the HGD mutation database (http://hgddatabase.cvtisr.sk/). An empty box indicates that polymorphism has not been analyzed. Two different alleles in one box show that it was not possible to establish it unambiguously. The position of the mutation within the haplotype is marked by a thick black line. The short name, with the original name in brackets, is indicated for the mutations where the numbering has changed due to nomenclature recommendations. The DNA numbering system is based on cDNA (NM_000187.3), with +1 corresponding to the A of the ATG
| Exon/intron | Mutation | Short name (original name) | Nucleotide change | IVS2+35 | IVS2-218 | IVS3-112 | ex4 (c.240) | IVS4+31 | HGO-3 | HGO-1 | IVS5+25 | IVS6+46 | IVS11+18 | HGO-2 | Origin | Allele code in AKU database | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (A) | |||||||||||||||||
| 01i | Ivs1-1G>A | INV1-1G>A | c.16-1G>A | A | A | T | T | A | 201 | 161 | T | C | A | 181 | Algeria | AKU_DB_43a,b | Zatkova et al. (2000a) |
| A | A | T | T | A | 201 | 161 | T | C | A | 181 | Poland | AKU_DB_22a | Beltrán-Valero de Bernabé et al. (1999) | ||||
| A | A | T | T | A | 201 | 161 | T | C | A | 181 | Slovakia | AKU_DB_53c | Zatkova et al. (2000a) | ||||
| A | A | T | T | A | 201 | 161 | T | C | A | 181 | Slovakia | AKU_DB_54a | Zatkova et al. (2000a) | ||||
| A | A | T/C | T | A | 201/189 | 161 | T | C | A | 181/187 | Slovakia | AKU_DB_71a | Zatkova et al. (2000a) | ||||
| 03 | p.Ser47Leu | S47L | c.140C>T | A | T | T | A | A | 197 | 161 | T | C | A | 197 | Slovakia | AKU_DB_57a | Zatkova et al. (2000a) |
| 03 | p.Ser59AlafsX52 | S59fs (R58fs) | c.175delA | A | A | T | T | A | 193 | 161 | T | C | A | 181 | India | AKU_DB_49a | Zatkova et al. (2000a) |
| A | A | T | T | A | 197 | 161 | T | C | A | 181 | Finland | AKU_DB_40a,b | Beltrán-Valero de Bernabé et al. (1999) | ||||
| A | A | T | T | A | 197 | 161 | T | C | A | 181 | Slovakia | AKU_DB_66a | Zatkova et al. (2000a) | ||||
| T | T | A | 197 | 161 | T | C | A | 181 | Turkey | AKU_DB_89a,b | Uyguner et al. (2003) | ||||||
| T | T | A | 197 | 161 | T | C | A | 181 | Turkey | AKU_DB_92a,b | Uyguner et al. (2003) | ||||||
| T | T | A | 197 | 161 | T | C | A | 181/189 | Turkey | AKU_DB_90a | Uyguner et al. (2003) | ||||||
| T/C | T | A | 197/195 | 161/163 | T/C | C/A | A | 181/187 | Turkey | AKU_DB_90b | Uyguner et al. (2003) | ||||||
| 05i | IVS5+1G>A | INV5+1G>A | c.342+1G>A | A | T | T | A | A | 193 | 161 | T | C | A | 187/191 | Slovakia | AKU_DB_41a | Zatkova et al. (2000a) |
| A | A | C | T | A | 189 | 161 | T | C | G | 183 | Slovakia | AKU_DB_51a,b | Zatkova et al. (2000a) | ||||
| 07 | p.Asp153GlyfsX26 | A153fs (G152fs) | c.457dupG | T | A | C | T | A | 191 | 161 | T | C | A | 187 | France | AKU_DB_39a,b | Zatkova et al. (2000a) |
| C | T | A | 191 | 161 | T | C/A | A | 187 | France | AKU_DB_97a | Present report | ||||||
| T | A | C | T | A | 191 | 161 | T | C | A | 187 | Italy | AKU_DB_28a,b | Porfirio et al. (2000) | ||||
| A | A | C | T | A | 189 | 161 | T | C | A | 187 | Slovakia | AKU_DB_50a | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 189 | 161 | T | C | A | 187 | Slovakia | AKU_DB_51c | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 189 | 161 | T | C | A | 187 | Slovakia | AKU_DB_55a,b | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 189 | 161 | T | C | A | 187 | Slovakia | AKU_DB_58a | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 189 | 161 | T | C | A | 187 | Slovakia | AKU_DB_60a,b | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 189 | 161 | T | C | A | 187 | Slovakia | AKU_DB_61a | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 189 | 161 | T | C | A | 187 | Slovakia | AKU_DB_70a,b | Zatkova et al. (2000a) | ||||
| A | A | C/T | T | A | 189/201 | 161 | T | C | A | 187/181 | Slovakia | AKU_DB_71b | Zatkova et al. (2000a) | ||||
| C | T/A | A | 193 | 161 | T | C | A | 187 | Slovakia | AKU_DB_101a | Present report | ||||||
| C/T | T | A/G | 199 | 161 | T | C | A | 187 | Slovakia | AKU_DB_103a | Present report | ||||||
| 08 | p.Gly161Arg | G161R | c.481G>A | T | A | A | 193/191 | 161/163 | T | C/A | A | 191/187 | Serbia | AKU_DB_110a | Present report | ||
| A | T | A | A | 193 | 161 | T | C | A | 191 | Poland | AKU_DB_81a,b | Present report | |||||
| A | T | T | A/T | A | 193 | 161 | T | C | A | 191/173 | USA | AKU_DB_45b | Zatkova et al. (2000a) | ||||
| T | A/T | A | 193 | 161 | T | C | A | 191 | Slovakia | AKU_DB_101b | Present report | ||||||
| A | T | T | A | A | 193 | 161 | T | C | A | 191 | Slovakia | AKU_DB_58b | Zatkova et al. (2000a) | ||||
| T | A | A | 193 | 161 | T | C | A | 191 | Slovakia | AKU_DB_104a,b,c,d | Present report | ||||||
| A | T | T | A | A | 193 | 161 | T | C | A | 191 | Slovakia | AKU_DB_62a,b | Zatkova et al. (2000a) | ||||
| T | A | A | 193 | 161 | T | C | A | 191 | Slovakia | AKU_DB_106a,b | Present report | ||||||
| A | T | T | A | A | 193 | 161 | T | C | A | 191/187 | Slovakia | AKU_DB_41b | Zatkova et al. (2000a) | ||||
| A | T | T | A | A | 193 | 161 | T | C | A | 191 | Slovakia | AKU_DB_63a,b | Zatkova et al. (2000a) | ||||
| T/C | A/T | A | 193/189 | 161/163 | T/C | C/A | A | 191 | Slovakia | AKU_DB_93a | Present report | ||||||
| T | A | A | 193 | 161 | T | C | A | 191 | Slovakia | AKU_DB_94a | Present report | ||||||
| T | A | A | T | C | A | Slovakia | AKU_DB_127a,b | Present report | |||||||||
| C | T | A | T | C | A | Slovakia | AKU_DB_115a | Present report | |||||||||
| C | T | A | 197 | 161 | T | C | A | 191 | Slovakia | AKU_DB_105a,b | present report | ||||||
| C | T | A | 197/189 | 161 | T | C | A | 191 | Slovakia | AKU_DB_102a | Present report | ||||||
| A | A | C | T | A | 197 | 161 | T | C | A | 191 | Slovakia | AKU_DB_53d | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 197 | 161 | T | C | A | 191 | Slovakia | AKU_DB_57b | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 197 | 161 | T | C | A | 191 | Slovakia | AKU_DB_59a | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 197 | 161 | T | C | A | 191 | Slovakia | AKU_DB_61b | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 197 | 161 | T | C | A | 191 | Slovakia | AKU_DB_67a | Zatkova et al. (2000a) | ||||
| C | T | A | T | C | A | Slovakia | AKU_DB_128a,b | Present report | |||||||||
| 08 | p.Glu178Gly | E178G | c.533A>G | T/C | T/A | A | 189/193 | 163/161 | T/C | C/A | A | 185/191 | Slovakia | AKU_DB_93b | Present report | ||
| 10 | p.Pro230Ser | P230S | c.688C>T | A | A | C | T | A | 189 | 163 | C | A | A | 185 | Slovakia | AKU_DB_64a,b | Zatkova et al., (2000a) |
| C | T | A | 189/199 | 163/161 | C | A/C | A | 185/183 | Slovakia | AKU_DB_95a | Present report | ||||||
| A | A | C | T | A | 189 | 163 | C | A | A | 185 | Spain | AKU_DB_1a,b | Beltrán-Valero de Bernabé et al. (1998) | ||||
| A | A | T | A | A | 191 | 163 | C | A | A | 185 | Spain | AKU_DB_2a | Beltrán-Valero de Bernabé et al. (1998) | ||||
| T | A | C | T | A | 191 | 163 | C | A | A | 185 | Turkey | AKU_DB_3a,b | Beltrán-Valero de Bernabé et al. (1998) | ||||
| 11 | p.Gly270Arg | G270R | c.808G>A | A | T | A | A | 191 | 163 | C | A | A | 189 | Rep Dom | AKU_DB_77a,b | Goicoechea de Jorge et al. (2002) | |
| T/C | T | A | 195/193 | 161 | T | C | A | 183/189 | France/Armenia | AKU_DB_109a | Present report | ||||||
| A | A | T | T | A | 195 | 161 | T | C | A | 181 | Slovakia | AKU_DB_52a | Zatkova et al. (2000a) | ||||
| A | A | T | T | A | 195 | 161 | T | C | A | 181 | Slovakia | AKU_DB_53a | Zatkova et al. (2000a) | ||||
| A | A | T | T | A | 195 | 161 | T | C | A | 181 | Slovakia | AKU_DB_59b | Zatkova et al. (2000a) | ||||
| A | A | T | T | A | 195 | 161 | T | C | A | 181 | Slovakia | AKU_DB_61c | Zatkova et al. (2000a) | ||||
| A | A | T | T | A | 195 | 161 | T | C | A | 181 | Slovakia | AKU_DB_66b | Zatkova et al. (2000a) | ||||
| A | A | T | T | A | 195 | 161 | T | C | A | 181 | Slovakia | AKU_DB_67b | Zatkova et al. (2000a) | ||||
| T | T | A | T | C | A | Slovakia | AKU_DB_115b | Present report | |||||||||
| T | A | C | T | A | 195 | 161 | T | C | A | 187 | Italy | AKU_DB_29a,b | Porfirio et al., (2000) | ||||
| T | T | A | 201 | 161 | T | C | A | 187 | Turkey | AKU_DB_91a,b | Uyguner et al. (2003) | ||||||
| A/T | T | T | C | A | United Kingdom | AKU_DB_125a | Present report | ||||||||||
| 12 | p.Val300Gly | V300G | c.899T>G | A | A | C | T | A | 189 | 163 | C | A | A | 187 | France | AKU_DB_5a | Beltrán-Valero de Bernabé et al. (1998) |
| A | A | C | T | A | 189 | 163 | C | A | A | 187 | Germany | AKU_DB_6a,b | Beltrán-Valero de Bernabé et al. (1998) | ||||
| A | C | T | A | 189 | 163 | C | A | A | 187 | Portugal | AKU_DB_84a,b | AKU database | |||||
| A | A | C | T | A | 189 | 163 | C | A | A | 187 | Spain | AKU_DB_2b | Beltrán-Valero de Bernabé et al. (1998) | ||||
| C | T | A | 189/197 | 163 | C | A | A | 187 | Slovakia | AKU_DB_102b | present report | ||||||
| T | A | C | T | A | 191 | 161 | T | A | A | 187 | Slovakia | AKU_DB_50b | Zatkova et al. (2000a) | ||||
| 13 | p.Met368Val | M368V | c.1102A>G | A | A | T | T | A | 195 | 161 | T | C | A | 183 | Finland | AKU_DB_36a,b | Beltrán-Valero de Bernabé et al. (1999) |
| A | A | T | T | A | 195 | 161 | T | C | A | 183 | Finland | AKU_DB_38a,b | Beltrán-Valero de Bernabé et al. (1999) | ||||
| A | A | T/C | T | A | 195 | 161 | T | C/A | A | 183/181 | France | AKU_DB_33c | AKU database | ||||
| T/C | T | A | 195/189 | 161/163 | T/C | C/A | A | 183/189 | France | AKU_DB_96b | present report | ||||||
| A | A | T | T | A | 195 | 161 | T | C | A | 183 | Germany | AKU_DB_7a,b | Beltrán-Valero de Bernabé et al. (1998) | ||||
| T | T | A | 195/193 | 161 | T | C | A | 183/189 | France/Armenia | AKU_DB_109b | Present report | ||||||
| A | A | T | T | A | 195 | 161 | T | C | A | 181 | Portugal | AKU_DB_47a,b | AKU database | ||||
| A | T | T | A | 195 | 161 | T | C | A | 181 | Portugal | AKU_DB_85a,b | AKU database | |||||
| T | T | A | 195 | 161 | T | C | A | 181 | Slovakia | AKU_DB_94b | Present report | ||||||
| T | A | T | T | A | 195 | 161 | T | C | A | 181 | France | AKU_DB_5b | Beltrán-Valero de Bernabé et al. (1998) | ||||
| A | A/T | T | T/A | A | 195 | 161 | T | C | A | 181 | The Netherlands | AKU_DB_25b | Beltrán-Valero de Bernabé et al. (1999) | ||||
| A/T | A | T/C | T | A | 195 | 161 | T | C/A | A | 181/179 | USA | AKU_DB_23a | Beltrán-Valero de Bernabé et al. (1999) | ||||
| A | A | T | T | A | 195 | 161 | T | C | A | 179 | Spain | AKU_DB_24a,b | Beltrán-Valero de Bernabé et al. (1999) | ||||
| A | A | T | T | A | 199 | 161 | T | C | A | 181 | Spain | AKU_DB_18a | Beltrán-Valero de Bernabé et al. (1999) | ||||
| A | T | T | A | 193 | 161 | T | A | A | 181/179 | France | AKU_DB_82a | AKU database | |||||
| C | T | A | 199/189 | 161/163 | T | C/A | A | 183/185 | Slovakia | AKU_DB_95b | Present report | ||||||
| 13 | p.His371ProfsX4 | H371fs (P370fs) | c.1111dupC | T/C | T | G/A | 199 | 161 | T | C | A | 179 | Slovakia | AKU_DB_103b | Present report | ||
| A | A | T | T | G | 199 | 161 | T | C | A | 179 | Slovakia | AKU_DB_52b | Zatkova et al. (2000a) | ||||
| A | A | T | T | G | 199 | 161 | T | C | A | 179 | Slovakia | AKU_DB_54b | Zatkova et al. (2000a) | ||||
| A | A | T | T | G | 199 | 161 | T | C | A | 179 | Slovakia | AKU_DB_69a,b | Zatkova et al. (2000a) | ||||
| A | A | C | T | A | 189 | 161 | T | C | A | 179 | Slovakia | AKU_DB_53b | Zatkova et al. (2000a) | ||||
| (B) | |||||||||||||||||
| 03 | p.Glu33Arg | Q33R | c.98G>A | C | T | A | 191 | 161 | T | C | A | 181 | Korea | AKU_DB_100a | Present report | ||
| 03 | p.Leu44Phe | L44F | c.130C>T | C | T | A | T | A | A | Algeria | AKU_DB_108c | Present report | |||||
| 04 | p.Trp60X | W60X | c.179G>A | T | A | A | 191 | 161 | T | C | A | 189 | Italy | AKU_DB_107a,b | Present report | ||
| 06 | p.Gly115Arg | G115R | c.343G>C | A | T/A | A | T | C | A/G | United Kingdom | AKU_DB_124a | Present report | |||||
| United Kingdom | AKU_DB_126a | Present report | |||||||||||||||
| 06 | p.Leu116Pro | L116P | c.347T>C | T | T | G | 191 | 161 | T | A | A | 183 | France (Indian origin) | AKU_DB_112a,b | Present report | ||
| 06 | p.Cys120Phe | C120F | c.359G>T | A | T | A | T/C | A | A | United Kingdom | AKU_DB_120a | Present report | |||||
| 06 | p.Ala122Val | A122V | c.365C>T | T | T | A | 197 | 161 | T | C | A | 191 | Canada (Indian origin) | AKU_DB_99a,b | Present report | ||
| A | A | T | T | A | 193 | 161 | T | C | A | 185 | India | AKU_DB_49b | AKU database | ||||
| 06 | p.Gly123Ala | G123A | c.368G>C | T | A | A | T | C | A | Algeria | AKU_DB_113a,b | Present report | |||||
| T | A | A | T | C | A | Algeria | AKU_DB_117a,b | Present report | |||||||||
| T | A | A | T | C | A | Algeria | AKU_DB_118a,b | Present report | |||||||||
| 07 | p.Gly152Ala | G152A | c.455G>C | C | T | A | 191 | 161 | T | A | A | 179 | Korea | AKU_DB_100b | Present report | ||
| 07i | IVS7+2T>C | INV7+2T>C | c.469+2T>C | T/C | T | A | 189/195 | 163/161 | C/T | C/A | A | 189/183 | France | AKU_DB_96a | Present report | ||
| A | T | A/G | C/T | C/A | A | United Kingdom | AKU_DB_122a | Present report | |||||||||
| 08 | p.Val157GlufsX11 | V157fs | c.470-1_494del25 | A/T | T | A | T | C | A | United Kingdom | AKU_DB_123b | Present report | |||||
| 08 | p.Val157AspfsX22 | V157fs | c.470-1_470insA | C | T/A | A | 191/193 | 163/161 | C | A/C | A | 187/191 | France | AKU_DB_110b | Present report | ||
| 08 | p.Pro158Leu | P158L | c.473C>T | C | T | A | T | A | A | Macedonia | AKU_DB_116a | Present report | |||||
| 08 | p.Phe169Leu | F169L | c.507T>G | A | T | A/G | T/C | C/A | A | United Kingdom | AKU_DB_122b | Present report | |||||
| 09 | p.Arg197Gly | R197G | c.589A>G | A | T | A | T/C | A | A | United Kingdom | AKU_DB_120b | Present report | |||||
| 10 | p.Ala218ProfsX11 | A218fs (G217fs) | c.652delG | A | T | T | A | 191 | 161 | C | A | A | 179 | Algeria | AKU_DB_83a | AKU database | |
| C | T | A | 191 | 161 | T | C/A | A | 181 | Algeria | AKU_DB_97b | Present report | ||||||
| 10 | p.Asn219Ser | N219S | c.656A>G | C | T | A | 191 | 161 | T | A | A | 187 | Turkey | AKU_DB_98a,b | Present report | ||
| 11 | p.Pro274Leu | P274L | c.821C>T | T | T | A | C | A | A | Macedonia | AKU_DB_116b | Present report | |||||
| 11 | p.Lys276Asn | K276N | c.828G>C | A | T | A | T | A | A | United Kingdom | AKU_DB_121a | Present report | |||||
| 11 | p.Ser287X | S287X | c.860C>A | T | A | A | 195 | 163 | C | A | A | 201 | Algeria | AKU_DB_108a,b | Present report | ||
| 13 | p.Gly360Ala | G360A | c.1079G>C | C | T | A | 193 | T | C | A | 197 | France | AKU_DB_111a,b | Present report | |||
| 13 | p.Gly361Arg | G361R | c.1081G>A | A | T | A | T | A | A | United Kingdom | AKU_DB_121b | Present report | |||||
| United Kingdom | AKU_DB_126b | Present report | |||||||||||||||
| 13 | p.Asp374His | D374H | c.1120G>C | A/T | T | T | C | A | United Kingdom | AKU_DB_125b | Present report | ||||||
| 14 | p.Lys431HisfsX11 | K431fs | c.1282_1292 delGAGCCACTCAA | A | T/A | A | T | C | A/G | United Kingdom | AKU_DB_121a | Present report | |||||