FV mutations and polymorphic frequencies detected in this study
| Location . | nt . | Base change . | Amino acid change . | Restriction site3-150 . | Allele frequency . | Reference . |
|---|---|---|---|---|---|---|
| Promoter | −426 | g → a | NA | BstN I+ | 0.86/0.14 | This study |
| Exon 3 | 409 | G → C | D79H | − | 0.95/0.05 | 45 |
| Exon 7 | 1102 | A → T | K310Term; FV Amersfoort | − | ND | This study |
| Exon 7 | 1130-1139 | 8 bp deletion | frameshift; FV Seoul1 | Mbo II + | ND | This study |
| Exon 12 | 1927 | T → C | C585R; FV Nijkerk | BslI− | 1.00/0.00 | This study |
| Exon 12 | 2016 | C → A | T614 | Mnl I+ | 0.95/0.05 | 41,45 |
| Exon 13 | 2491 | C → T | Q773Term; FV Casablanca | Hph I+ | ND | This study |
| Exon 13 | 2540 | A → C | N789T | − | 0.93/0.07 | 41, 45,64 |
| Exon 13 | 4185 | C → T | T1337 | − | 0.61/0.39 | This study |
| Exon 13 | 4279 | C → T | L1369F | BstY I+ | 0.99/0.01 | 41 |
| Exon 13 | 4291-4294 | 1 bp deletion | frameshift; FV Utrecht | − | ND | This study |
| Exon 13 | 4300 | C → T | P1376S | DdeI− | 0.99/0.01 | 41 |
| Exon 15 | 5112 | A → G | G1646 | − | 0.99/0.01 | 41,45 |
| Exon 15 | 5279 | A → G | Y1702C; FV Seoul2 | Cac8 I− | ND | 25, this study |
| Exon 24 | 6533 | T → C | M2120T | Tai I− | 0.99/0.01 | This study |
| Exon 25 | 6755 | A → G | D2194G | − | 0.93/0.07 | 45, 62, 65 |
| Intron 5 | −262 | t → c | NA | − | ND | This study |
| Intron 5 | −195 | g → a | NA | − | ND | This study |
| Intron 5 | (−160)-(−157) | insertion t | NA | − | ND | This study |
| Intron 8 | −387 | g → a | NA | − | ND | This study |
| Intron 8 | −374 | g → t | NA | − | ND | This study |
| Intron 8 | −121 | t → c | NA | − | ND | This study |
| Intron 13 | −323 | t → c | NA | − | ND | This study |
| Intron 14 | −88 | c → t | NA | − | ND | This study |
| Intron 15 | +73 | g → a | NA | − | ND | This study |
| Intron 15 | +365 | a → t | NA | − | ND | This study |
| Intron 15 | −325 | t → g | NA | − | ND | This study |
| Intron 15 | −134 | t → c | NA | − | ND | This study |
| Intron 17 | −178 | a → g | NA | − | ND | This study |
| Intron 18 | −50 | g → a | NA | − | ND | This study |
| Intron 19 | +349 | c → g | NA | − | ND | This study |
| Intron 21 | −44 | t → c | NA | − | ND | This study |
| Intron 24 | +130 | a → c | NA | − | ND | This study |
| Intron 24 | −147 | g → a | NA | − | ND | This study |
| Intron 24 | −65 | a → c | NA | − | ND | This study |
| Location . | nt . | Base change . | Amino acid change . | Restriction site3-150 . | Allele frequency . | Reference . |
|---|---|---|---|---|---|---|
| Promoter | −426 | g → a | NA | BstN I+ | 0.86/0.14 | This study |
| Exon 3 | 409 | G → C | D79H | − | 0.95/0.05 | 45 |
| Exon 7 | 1102 | A → T | K310Term; FV Amersfoort | − | ND | This study |
| Exon 7 | 1130-1139 | 8 bp deletion | frameshift; FV Seoul1 | Mbo II + | ND | This study |
| Exon 12 | 1927 | T → C | C585R; FV Nijkerk | BslI− | 1.00/0.00 | This study |
| Exon 12 | 2016 | C → A | T614 | Mnl I+ | 0.95/0.05 | 41,45 |
| Exon 13 | 2491 | C → T | Q773Term; FV Casablanca | Hph I+ | ND | This study |
| Exon 13 | 2540 | A → C | N789T | − | 0.93/0.07 | 41, 45,64 |
| Exon 13 | 4185 | C → T | T1337 | − | 0.61/0.39 | This study |
| Exon 13 | 4279 | C → T | L1369F | BstY I+ | 0.99/0.01 | 41 |
| Exon 13 | 4291-4294 | 1 bp deletion | frameshift; FV Utrecht | − | ND | This study |
| Exon 13 | 4300 | C → T | P1376S | DdeI− | 0.99/0.01 | 41 |
| Exon 15 | 5112 | A → G | G1646 | − | 0.99/0.01 | 41,45 |
| Exon 15 | 5279 | A → G | Y1702C; FV Seoul2 | Cac8 I− | ND | 25, this study |
| Exon 24 | 6533 | T → C | M2120T | Tai I− | 0.99/0.01 | This study |
| Exon 25 | 6755 | A → G | D2194G | − | 0.93/0.07 | 45, 62, 65 |
| Intron 5 | −262 | t → c | NA | − | ND | This study |
| Intron 5 | −195 | g → a | NA | − | ND | This study |
| Intron 5 | (−160)-(−157) | insertion t | NA | − | ND | This study |
| Intron 8 | −387 | g → a | NA | − | ND | This study |
| Intron 8 | −374 | g → t | NA | − | ND | This study |
| Intron 8 | −121 | t → c | NA | − | ND | This study |
| Intron 13 | −323 | t → c | NA | − | ND | This study |
| Intron 14 | −88 | c → t | NA | − | ND | This study |
| Intron 15 | +73 | g → a | NA | − | ND | This study |
| Intron 15 | +365 | a → t | NA | − | ND | This study |
| Intron 15 | −325 | t → g | NA | − | ND | This study |
| Intron 15 | −134 | t → c | NA | − | ND | This study |
| Intron 17 | −178 | a → g | NA | − | ND | This study |
| Intron 18 | −50 | g → a | NA | − | ND | This study |
| Intron 19 | +349 | c → g | NA | − | ND | This study |
| Intron 21 | −44 | t → c | NA | − | ND | This study |
| Intron 24 | +130 | a → c | NA | − | ND | This study |
| Intron 24 | −147 | g → a | NA | − | ND | This study |
| Intron 24 | −65 | a → c | NA | − | ND | This study |
NA indicates not applicable; ND, not determined.
Applicable restriction enzymes used for confirmation of mutations or polymorphisms and establishing allelic frequencies (n = 100). Presence (+) or absence (−) of a recognition site at this nucleotide position in the wild-type sequence is indicated.