List of mutations found in HJV and their occurrence on different alleles
Nucleotide change . | Exon . | Residue . | Family origin . | Alleles, no. . | Homozygotes, no. . | Restriction enzyme . |
|---|---|---|---|---|---|---|
| 220delG | 3 | V74fsX113 | English | 1 | 0 | NA |
| 253T > C | 3 | S85P | Italian | 2 | 1 | BsrBI |
| 295G > A | 3 | G99R | Albanian | 1 | 0 | SacII |
| 302T > C | 3 | L101P | Albanian | 1 | 0 | MnII |
| 391-403del | 3 | R131fsX245 | Italian | 2 | 0 | NA |
| 445delG | 3 | D149fsX245 | Italian | 6 | 3 | MaeIII |
| 503C > A | 3 | A168D | Australian/English | 2 | 1 | HinfI |
| 509T > C | 3 | F170S | Italian | 4 | 2 | MnlI |
| 516C > G | 3 | D172E | Italian | 1 | 0 | NA |
| 573G > T | 3 | W191C | Italian | 2 | 1 | HaeIII |
| 615C > G | 3 | S205R | Italian | 1 | 0 | AluI |
| 49G > T | 4a | G250V | Italian | 1 | 0 | NA |
| 806-807insA | 4a | N269fsX311 | English | 1 | 0 | NA |
| 863C > T | 4a | R288W | French | 2 | 1 | NA |
| 954-955insG | 4a | G319fsX341 | Italian | 1 | 0 | NA |
| 959G > T | 4b | G320V | Canadian/Italian | 36 | 18 | BanI |
| 1153C > T | 4b | R385X | Italian | 4 | 2 | AvaI |
Nucleotide change . | Exon . | Residue . | Family origin . | Alleles, no. . | Homozygotes, no. . | Restriction enzyme . |
|---|---|---|---|---|---|---|
| 220delG | 3 | V74fsX113 | English | 1 | 0 | NA |
| 253T > C | 3 | S85P | Italian | 2 | 1 | BsrBI |
| 295G > A | 3 | G99R | Albanian | 1 | 0 | SacII |
| 302T > C | 3 | L101P | Albanian | 1 | 0 | MnII |
| 391-403del | 3 | R131fsX245 | Italian | 2 | 0 | NA |
| 445delG | 3 | D149fsX245 | Italian | 6 | 3 | MaeIII |
| 503C > A | 3 | A168D | Australian/English | 2 | 1 | HinfI |
| 509T > C | 3 | F170S | Italian | 4 | 2 | MnlI |
| 516C > G | 3 | D172E | Italian | 1 | 0 | NA |
| 573G > T | 3 | W191C | Italian | 2 | 1 | HaeIII |
| 615C > G | 3 | S205R | Italian | 1 | 0 | AluI |
| 49G > T | 4a | G250V | Italian | 1 | 0 | NA |
| 806-807insA | 4a | N269fsX311 | English | 1 | 0 | NA |
| 863C > T | 4a | R288W | French | 2 | 1 | NA |
| 954-955insG | 4a | G319fsX341 | Italian | 1 | 0 | NA |
| 959G > T | 4b | G320V | Canadian/Italian | 36 | 18 | BanI |
| 1153C > T | 4b | R385X | Italian | 4 | 2 | AvaI |
NA indicates not applicable.