General Structure Information
| PDB ID | 2xrc |
| HGNC Gene Label(s) | CFI |
| Structure Name | human complement factor i |
| Resolution | 2.69Å |
| Reference | AUTH P.ROVERSI,S.JOHNSON,J.J.CAESAR,F.MCLEAN,K.J.LEATH,AUTH 2 S.A.TSIFTSOGLOU,B.P.MORGAN,C.L.HARRIS,R.B.SIM,S.M.LEATITL STRUCTURAL BASIS FOR COMPLEMENT FACTOR I CONTROL AND ITSTITL 2 DISEASE-ASSOCIATED SEQUENCE POLYMORPHISMS.REF PROC.NATL.ACAD.SCI.USA V. 108 12839 2011REFN ISSN 0027-8424PMID 21768352DOI 10.1073/PNAS.1102167108 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 461 |
| Number Of SNVs | 137 |
| Number Of Permutations | 36046 |
| Optimal Distance Threshold | 30.0 |
| K Statistic | 0.421 |
| p-value | 0.127 |
ClinVar
| Number Of Residues | 461 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1278 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.1 |
| p-value | 0.87 |
COSMIC
| Number Of Residues | 461 |
| Number Of SNVs | 3 |
| Number Of Permutations | 201 |
| Optimal Distance Threshold | 30.0 |
| K Statistic | 0.667 |
| p-value | 0.581 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 137 |
| Number Of ClinVar SNVs | 5 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.079 |
| p-value | 0.978 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 137 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 34.0 |
| K Statistic | 0.495 |
| p-value | 0.472 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
COSMIC PathProx Analysis
