General Structure Information
| PDB ID | 3o10 |
| HGNC Gene Label(s) | SACS |
| Structure Name | crystal structure of the hepn domain from human sacsin |
| Resolution | 1.9Å |
| Reference | AUTH G.KOZLOV,A.Y.DENISOV,M.GIRARD,M.J.DICAIRE,J.HAMLIN,AUTH 2 P.S.MCPHERSON,B.BRAIS,K.GEHRINGTITL STRUCTURAL BASIS OF DEFECTS IN THE SACSIN HEPN DOMAINTITL 2 RESPONSIBLE FOR AUTOSOMAL RECESSIVE SPASTIC ATAXIA OFTITL 3 CHARLEVOIX-SAGUENAY (ARSACS).REF J.BIOL.CHEM. V. 286 20407 2011REFN ISSN 0021-9258PMID 21507954DOI 10.1074/JBC.M111.232884 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 135 |
| Number Of SNVs | 25 |
| Number Of Permutations | 3371 |
| Optimal Distance Threshold | 16.0 |
| K Statistic | 0.327 |
| p-value | 0.747 |