General Structure Information
| PDB ID | 3a4u |
| HGNC Gene Label(s) | MCFD2 |
| Structure Name | crystal structure of mcfd2 in complex with carbohydrate recognition domain of ergic-53 |
| Resolution | 1.84Å |
| Reference | AUTH M.NISHIO,Y.KAMIYA,T.MIZUSHIMA,S.WAKATSUKI,H.SASAKAWA,AUTH 2 K.YAMAMOTO,S.UCHIYAMA,M.NODA,A.R.MCKAY,K.FUKUI,H.P.HAURI,AUTH 3 K.KATOTITL STRUCTURAL BASIS FOR THE COOPERATIVE INTERPLAY BETWEEN THETITL 2 TWO CAUSATIVE GENE PRODUCTS OF COMBINED FACTOR V AND FACTORTITL 3 VIII DEFICIENCY.REF PROC.NATL.ACAD.SCI.USA V. 107 4034 2010REFN ISSN 0027-8424PMID 20142513DOI 10.1073/PNAS.0908526107 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 65 |
| Number Of SNVs | 18 |
| Number Of Permutations | 1177 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.137 |
| p-value | 0.73 |
ClinVar
| Number Of Residues | 65 |
| Number Of SNVs | 3 |
| Number Of Permutations | 75 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.667 |
| p-value | 0.445 |
Ripley’s K Analysis Plots
ExACClinVar
Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 18 |
| Number Of ClinVar SNVs | 3 |
| Optimal Distance Threshold | 11.0 |
| K Statistic | 0.405 |
| p-value | 0.428 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis
