General Structure Information
| PDB ID | 1h8b |
| HGNC Gene Label(s) | ACTN2 |
| Structure Name | ef-hands 3,4 from alpha-actinin / z-repeat 7 from titin |
| Resolution | -1.0Å |
| Reference | AUTH R.A.ATKINSON,C.JOSEPH,G.KELLY,F.W.MUSKETT,AUTH 2 T.A.FRENKIEL,D.NIETLISPACH,A.PASTORETITL CA2+-INDEPENDENT BINDING OF AN EF-HAND DOMAIN TO ATITL 2 NOVEL MOTIF IN THE ALPHA-ACTININ-TITIN COMPLEXREF NAT.STRUCT.BIOL. V. 8 853 2001REFN ISSN 1072-8368PMID 11573089DOI 10.1038/NSB1001-853 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 73 |
| Number Of SNVs | 27 |
| Number Of Permutations | 2064 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.114 |
| p-value | 0.587 |
COSMIC
| Number Of Residues | 73 |
| Number Of SNVs | 6 |
| Number Of Permutations | 289 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.267 |
| p-value | 0.347 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 27 |
| Number Of COSMIC SNVs | 8 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | -0.078 |
| p-value | 0.822 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
