3ORH.C | GAMT

General Structure Information

PDB ID 3orh
HGNC Gene Label(s) GAMT
Structure Name human guanidinoacetate n-methyltransferase with sah
Resolution 1.86Å
Reference AUTH H.WU,A.DONG,H.ZENG,P.LOPPNAU,M.SUNDSTROM,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,A.BOCHKAREV,A.N.PLOTNIKOVTITL THE CRYSTAL STRUCTURE OF HUMAN GUANIDINOACETATETITL 2 N-METHYLTRANSFERASE WITH SAHREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues 230
Number Of SNVs 68
Number Of Permutations 4740
Optimal Distance Threshold 6.0
K Statistic 0.023
p-value 0.402
ClinVar

Number Of Residues 230
Number Of SNVs 8
Number Of Permutations 553
Optimal Distance Threshold 8.0
K Statistic 0.0
p-value 0.581
COSMIC

Number Of Residues 230
Number Of SNVs 4
Number Of Permutations 292
Optimal Distance Threshold 11.0
K Statistic 0.333
p-value 0.231

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 68
Number Of ClinVar SNVs 8
Optimal Distance Threshold 8.0
K Statistic -0.046
p-value 0.435
Cosmic vs. ExAC

Number Of ExAC SNVs 68
Number Of COSMIC SNVs 4
Optimal Distance Threshold 11.0
K Statistic 0.225
p-value 0.706

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants