1PL6.A | SORD

General Structure Information

PDB ID 1pl6
HGNC Gene Label(s) SORD
Structure Name human sdh/nadh/inhibitor complex
Resolution 2.0Å
Reference AUTH T.A.PAULY,J.L.EKSTROM,D.A.BEEBE,B.CHRUNYK,D.CUNNINGHAM,AUTH 2 M.GRIFFOR,A.KAMATH,S.E.LEE,R.MADURA,D.MCGUIRE,T.SUBASHI,AUTH 3 D.WASILKO,P.WATTS,B.L.MYLARI,P.J.OATES,P.D.ADAMS,V.L.RATHTITL X-RAY CRYSTALLOGRAPHIC AND KINETIC STUDIES OF HUMAN SORBITOLTITL 2 DEHYDROGENASE.REF STRUCTURE V. 11 1071 2003REFN ISSN 0969-2126PMID 12962626DOI 10.1016/S0969-2126(03)00167-9

Variant Set Distributions

ExAC Variants

Number Of Residues 348
Number Of SNVs 59
Number Of Permutations 45910
Optimal Distance Threshold 7.0
K Statistic 0.036
p-value 0.052
COSMIC

Number Of Residues 348
Number Of SNVs 5
Number Of Permutations 1128
Optimal Distance Threshold 18.0
K Statistic 0.1
p-value 0.754

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 59
Number Of COSMIC SNVs 4
Optimal Distance Threshold 19.0
K Statistic -0.15
p-value 0.92

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants