Mutations in the Factor V gene associated with FV deficiency
| Nucleotide change . | Exon . | Effect . | Name . | Reference . |
|---|---|---|---|---|
| I. Nonfunctional mRNA | ||||
| Nonsense mutants | ||||
| 1. A1102T | 7 | K310Term | FV Amersfoort | This study |
| 2. C1690T | 10 | R506Term | 22, 23 | |
| 3. C2308T | 13 | R712Term | 21 | |
| 4. C2491T | 13 | Q773Term | FV Casablanca | This study |
| 5. C3571T | 13 | R1133Term | 28 | |
| Frameshift mutants | ||||
| 1. 8 bp deletion nts 1130-1139 −(TG)AAGAGG(TG) | 7 | Frameshift | FV Seoul1 | This study |
| 2. 2 bp deletion nts 2833-2834 −AC | 13 | Frameshift | 30 | |
| 3. 1 bp deletion nts 2857-2859 −C | 13 | Frameshift | 26 | |
| 4. 2 bp insertion nt 3706 +TC | 13 | Frameshift | 19 | |
| 5. 4 bp deletion nts 4014-4017 −TCAG | 13 | Frameshift | 20 | |
| 6. 1 bp deletion nts 4291-4294 −C | 13 | Frameshift | FV Utrecht | This study |
| 7. 4 bp insertion nt 4793 +ATTG | 13 | Frameshift | FV Stanford | 24, 27 |
| II. RNA processing | ||||
| Consensus changes | ||||
| 1. G5509A | 16 | Splicing | 18 | |
| III. Coding region substitutions | ||||
| Missense mutants | ||||
| 1. C836T | 6 | A221V | FV New Brunswick | 17 |
| 2. T1927C | 12 | C585R | FV Nijkerk | This study |
| 3. A5279G | 15 | Y1702C | FV Seoul2 | 25, this study |
| 4. G6395A | 23 | R2074H | 29 |
| Nucleotide change . | Exon . | Effect . | Name . | Reference . |
|---|---|---|---|---|
| I. Nonfunctional mRNA | ||||
| Nonsense mutants | ||||
| 1. A1102T | 7 | K310Term | FV Amersfoort | This study |
| 2. C1690T | 10 | R506Term | 22, 23 | |
| 3. C2308T | 13 | R712Term | 21 | |
| 4. C2491T | 13 | Q773Term | FV Casablanca | This study |
| 5. C3571T | 13 | R1133Term | 28 | |
| Frameshift mutants | ||||
| 1. 8 bp deletion nts 1130-1139 −(TG)AAGAGG(TG) | 7 | Frameshift | FV Seoul1 | This study |
| 2. 2 bp deletion nts 2833-2834 −AC | 13 | Frameshift | 30 | |
| 3. 1 bp deletion nts 2857-2859 −C | 13 | Frameshift | 26 | |
| 4. 2 bp insertion nt 3706 +TC | 13 | Frameshift | 19 | |
| 5. 4 bp deletion nts 4014-4017 −TCAG | 13 | Frameshift | 20 | |
| 6. 1 bp deletion nts 4291-4294 −C | 13 | Frameshift | FV Utrecht | This study |
| 7. 4 bp insertion nt 4793 +ATTG | 13 | Frameshift | FV Stanford | 24, 27 |
| II. RNA processing | ||||
| Consensus changes | ||||
| 1. G5509A | 16 | Splicing | 18 | |
| III. Coding region substitutions | ||||
| Missense mutants | ||||
| 1. C836T | 6 | A221V | FV New Brunswick | 17 |
| 2. T1927C | 12 | C585R | FV Nijkerk | This study |
| 3. A5279G | 15 | Y1702C | FV Seoul2 | 25, this study |
| 4. G6395A | 23 | R2074H | 29 |