Selected examples of point mutations in the factor V gene, resulting in no effect, partial factor V (FV) deficiency, or total FV deficiency
| Mutation in the DNA . | Amino acid change . | Consequence . |
|---|---|---|
| 7111G > A (exon 1) | Gly → Asp | FV deficiency |
| 36602C > T (exon 6) | Ala → Val | Partial FV deficiency |
| 38166G > T (exon 7) | Lys → Stop | FV deficiency |
| 40708C > G (intron 7) | Splice defect | FV deficiency |
| 43580G > A (exon 10) | Arg → Lys | Conserved substitution |
| 43642C > T (exon 10) | Arg → Stop | FV deficiency |
| 49020T > C (exon 12) | Cys → Arg | FV deficiency |
| 50340G > A (exon 13) | Gly → Glu | FV deficiency |
| 50582C > T (exon 13) | Arg → Stop | FV deficiency |
| 50765C > T (exon 13) | Gln → Stop | FV deficiency |
| 50937A > G (exon 13) | Lys → Arg | Conserved substitution |
| 51452C > T (exon 13) | Arg → Stop | FV deficiency |
| 56883G > A (exon 14) | Glu → Lys | FV deficiency |
| 62649A > G (exon 15) | Tyr → Cys | FV deficiency |
| 63672C > G (exon 16) | Leu → Val | Conserved substitution |
| 63846G > A (exon 16) | Ala → Thr | FV deficiency |
| 65414G > A (exon 17) | Trp → Stop | FV deficiency |
| 75001C > T (exon 23) | Arg → Cys | FV deficiency |
| 75002G > A (exon 23) | Arg → His | FV deficiency |
| 77925T > C (exon 24) | Met → Thr | Conserved substitution |
| Mutation in the DNA . | Amino acid change . | Consequence . |
|---|---|---|
| 7111G > A (exon 1) | Gly → Asp | FV deficiency |
| 36602C > T (exon 6) | Ala → Val | Partial FV deficiency |
| 38166G > T (exon 7) | Lys → Stop | FV deficiency |
| 40708C > G (intron 7) | Splice defect | FV deficiency |
| 43580G > A (exon 10) | Arg → Lys | Conserved substitution |
| 43642C > T (exon 10) | Arg → Stop | FV deficiency |
| 49020T > C (exon 12) | Cys → Arg | FV deficiency |
| 50340G > A (exon 13) | Gly → Glu | FV deficiency |
| 50582C > T (exon 13) | Arg → Stop | FV deficiency |
| 50765C > T (exon 13) | Gln → Stop | FV deficiency |
| 50937A > G (exon 13) | Lys → Arg | Conserved substitution |
| 51452C > T (exon 13) | Arg → Stop | FV deficiency |
| 56883G > A (exon 14) | Glu → Lys | FV deficiency |
| 62649A > G (exon 15) | Tyr → Cys | FV deficiency |
| 63672C > G (exon 16) | Leu → Val | Conserved substitution |
| 63846G > A (exon 16) | Ala → Thr | FV deficiency |
| 65414G > A (exon 17) | Trp → Stop | FV deficiency |
| 75001C > T (exon 23) | Arg → Cys | FV deficiency |
| 75002G > A (exon 23) | Arg → His | FV deficiency |
| 77925T > C (exon 24) | Met → Thr | Conserved substitution |