3RBN.B | MLH1

General Structure Information

PDB ID 3rbn
HGNC Gene Label(s) MLH1
Structure Name crystal structure of mutl protein homolog 1 isoform 1 [homo sapiens]
Resolution 2.16Å
Reference AUTH L.DOMBROVSKY,A.DONG,A.WERNIMONT,P.LOPPNAU,C.BOUNTRA,AUTH 2 J.WEIGELT,C.H.ARROWSMITH,A.M.EDWARDS,J.MIN,H.WUTITL CRYSTAL STRUCTURE OF MUTL PROTEIN HOMOLOG 1 ISOFORM 1 [HOMOTITL 2 SAPIENS]REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 234
Number Of SNVs 67
Number Of Permutations 38489
Optimal Distance Threshold 11.0
K Statistic 0.078
p-value 0.213
ClinVar

Number Of Residues 234
Number Of SNVs 21
Number Of Permutations 11690
Optimal Distance Threshold 17.0
K Statistic 0.443
p-value 0.005
COSMIC

Number Of Residues 234
Number Of SNVs 4
Number Of Permutations 1
Optimal Distance Threshold 18.0
K Statistic 0.167
p-value 1.0

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 67
Number Of ClinVar SNVs 19
Optimal Distance Threshold 18.0
K Statistic 0.205
p-value 0.008
Cosmic vs. ExAC

Number Of ExAC SNVs 67
Number Of COSMIC SNVs 3
Optimal Distance Threshold 18.0
K Statistic -0.275
p-value 0.743

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants