Human F5 variants and clinical presentation
| Human mutation . | Human amino acid variant . | Orthologous zebrafish amino acid . | Protein context human/fish conservation . | FV antigen, % . | FV activity, % . | Allelic status . | Symptoms . | Reference . |
|---|---|---|---|---|---|---|---|---|
| 5279A>G | p.Y1702C | Y1571 | CRAWAYYSAVN | 1 | <1 | Homozygous | Bleeding tendency | 54 |
| CRTWTYYSAVN | ||||||||
| **:*:****** | ||||||||
| 79109C>T | p.R2187C | R2067 | QSIALRLELFG | NA | 10 | Compound heterozygosity with G97D | No bleeding history | Unpublished† |
| KSVTMRIELLG | ||||||||
| :*:::*:**:* | ||||||||
| 32688G>A | p.G97D | G91 | SKLSEGASYLD | NA | 10 | Compound heterozygosity with R2187C | No bleeding history | Unpublished† |
| GKQSEGSKYFD | ||||||||
| * ***: *:* | ||||||||
| 21193C>A | p.S83R | S77 | ADKPLSIHPQG | 23 | 4 | Homozygous | Unknown | Unpublished† |
| ADHPCSLHPHG | ||||||||
| **:* *:**:* | ||||||||
| 6394C>T | p.R2074C | R1940 | EPFRARLNAQC | 1-2.3 | 4 | Homozygous | Easy bruising | 57 |
| HPWYARLNKQG | ||||||||
| *: **** ** |
| Human mutation . | Human amino acid variant . | Orthologous zebrafish amino acid . | Protein context human/fish conservation . | FV antigen, % . | FV activity, % . | Allelic status . | Symptoms . | Reference . |
|---|---|---|---|---|---|---|---|---|
| 5279A>G | p.Y1702C | Y1571 | CRAWAYYSAVN | 1 | <1 | Homozygous | Bleeding tendency | 54 |
| CRTWTYYSAVN | ||||||||
| **:*:****** | ||||||||
| 79109C>T | p.R2187C | R2067 | QSIALRLELFG | NA | 10 | Compound heterozygosity with G97D | No bleeding history | Unpublished† |
| KSVTMRIELLG | ||||||||
| :*:::*:**:* | ||||||||
| 32688G>A | p.G97D | G91 | SKLSEGASYLD | NA | 10 | Compound heterozygosity with R2187C | No bleeding history | Unpublished† |
| GKQSEGSKYFD | ||||||||
| * ***: *:* | ||||||||
| 21193C>A | p.S83R | S77 | ADKPLSIHPQG | 23 | 4 | Homozygous | Unknown | Unpublished† |
| ADHPCSLHPHG | ||||||||
| **:* *:**:* | ||||||||
| 6394C>T | p.R2074C | R1940 | EPFRARLNAQC | 1-2.3 | 4 | Homozygous | Easy bruising | 57 |
| HPWYARLNKQG | ||||||||
| *: **** ** |
Data are using F5-deficient patient plasma samples and activity refers to human F5 activity. Residue numbering begins subsequent to propeptide sequence (propeptide is 28 aa humans, 25 aa fish). Bold indicates the letter of the variant.
*, single fully conserved residue; :, conservation between groups of strongly similar properties; NA, not available.
R.A. and S.D., unpublished data.