1L8L.B | PSPH

General Structure Information

PDB ID 1l8l
HGNC Gene Label(s) PSPH
Structure Name molecular basis for the local confomational rearrangement of human phosphoserine phosphatase
Resolution 2.51Å
Reference AUTH H.Y.KIM,Y.S.HEO,J.H.KIM,M.H.PARK,J.MOON,E.KIM,AUTH 2 D.KWON,J.YOON,D.SHIN,E.J.JEONG,S.Y.PARK,T.G.LEE,AUTH 3 Y.H.JEON,S.RO,J.M.CHO,K.Y.HWANGTITL MOLECULAR BASIS FOR THE LOCAL CONFORMATIONALTITL 2 REARRANGEMENT OF HUMAN PHOSPHOSERINE PHOSPHATASE.REF J.BIOL.CHEM. V. 277 46651 2002REFN ISSN 0021-9258PMID 12213811DOI 10.1074/JBC.M204866200

Variant Set Distributions

ExAC Variants

Number Of Residues 222
Number Of SNVs 57
Number Of Permutations 9267
Optimal Distance Threshold 6.0
K Statistic 0.014
p-value 0.246
ClinVar

Number Of Residues 222
Number Of SNVs 3
Number Of Permutations 150
Optimal Distance Threshold 6.0
K Statistic 0.333
p-value 0.125
COSMIC

Number Of Residues 222
Number Of SNVs 10
Number Of Permutations 5010
Optimal Distance Threshold 17.0
K Statistic 0.4
p-value 0.478

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 57
Number Of ClinVar SNVs 3
Optimal Distance Threshold 6.0
K Statistic 0.32
p-value 0.078
Cosmic vs. ExAC

Number Of ExAC SNVs 57
Number Of COSMIC SNVs 8
Optimal Distance Threshold 11.0
K Statistic -0.093
p-value 0.743

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants