Table 1.
Phenotypes, copy number variants and numbers of characterized mutations for the genes encoding members of the coagulation pathway
| Gene symbol | MIM # | Protein level |
CNV |
HGMD® Public |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Incr. | Defic. | Gain | Loss | Misnon | Reg | Indel | Del | Splicing | Total | ||
| F10 | 227600 | Estro | Yes | CL | 77 | 0 | 8 | 3 | 5 | 93 | |
| F11 | 264900 | Yes | Yes | 102 | 1 | 11 | 1 | 12 | 127 | ||
| F13A1 | 134570 | Yes | Yes | 48 | 0 | 23 | 1 | 10 | 83 | ||
| F13B | 134580 | Yes | Yes | CL | 2 | 0 | 3 | 0 | 0 | 5 | |
| F2 | 176930 | Yes | Yes | 41 | 4 | 5 | 1 | 3 | 54 | ||
| F3 | 134390 | Yes | Mice | 0 | 1 | 1 | 0 | 0 | 2 | ||
| F5 | 612309 | Yes | Yes | CL | 38 | 0 | 21 | 1 | 6 | 67 | |
| F7 | 227500 | Yes | Yes | CG | CL | 115 | 11 | 19 | 2 | 22 | 172 |
| F8 | 306700 | Yes | Yes | CG | PL-1A | 896 | 2 | 307 | 138 | 90 | 1,451 |
| F9 | 300746 | Yes | Yes | PG-2 | 634 | 24 | 178 | 59 | 93 | 1,001 | |
| FGA | 134820 | Yes | Yes | 37 | 3 | 25 | 4 | 5 | 75 | ||
| FGB | 134830 | Yes | Yes | 33 | 2 | 5 | 1 | 5 | 44 | ||
| FGG | 134850 | Yes | Yes | 55 | 1 | 4 | 1 | 5 | 66 | ||
| VWF | 193400 | Yes | Yes | 230 | 5 | 39 | 14 | 23 | 313 | ||
| Total | 2,308 | 54 | 649 | 226 | 279 | 3,553 | |||||
Gene symbol listed according to HUGO Gene Nomenclature Committee (http://www.genenames.org/index.html)
MIM# accession number in the On-Line Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim)
Protein level incr indicates a published report associating increased protein levels with hemostatic disease (see On-Line Resource 3, Supplementary Table 2 for details and citations); estro indicates elevated protein levels ascertained in women taking oral contraceptives; defic indicates that a human deficiency state has been identified, as described in the corresponding OMIM report; mice indicates phenotype described in murine transgenic or knockout models, not in human; CNV copy number variation gain or loss (CG complete gain, CL complete loss, PG partial gain, PL partial loss); PG-2 indicates that two exons are involved; PL-1A indicates that one exon is involved and that this change gives rise to alternatively spliced transcripts (A); HGMD® Public indicates number of mutation entries listed in the public version of the Human Gene Mutation Database (http://www.hgmd.org): misnon missense and nonsense mutations combined; reg regulatory mutations; indel insertions, deletions and indels combined; del gross deletions; splicing mutations that impact splice sites; total total mutation number for each gene collated in HGMD® as of August 2010