3M1N.A | SHH

General Structure Information

PDB ID 3m1n
HGNC Gene Label(s) SHH
Structure Name crystal structure of human sonic hedgehog n-terminal domain
Resolution 1.85Å
Reference AUTH R.B.PEPINSKY,P.RAYHORN,E.S.DAY,A.DERGAY,AUTH 2 K.P.WILLIAMS,A.GALDES,F.R.TAYLOR,AUTH 3 P.A.BORIACK-SJODIN,E.A.GARBERTITL MAPPING SONIC HEDGEHOG-RECEPTOR INTERACTIONS BYTITL 2 STERIC INTERFERENCE.REF J.BIOL.CHEM. V. 275 10995 2000REFN ISSN 0021-9258PMID 10753901DOI 10.1074/JBC.275.15.10995

Variant Set Distributions

ExAC Variants

Number Of Residues 164
Number Of SNVs 19
Number Of Permutations 3931
Optimal Distance Threshold 12.0
K Statistic 0.117
p-value 0.742
ClinVar

Number Of Residues 164
Number Of SNVs 7
Number Of Permutations 1242
Optimal Distance Threshold 19.0
K Statistic 0.238
p-value 0.695
COSMIC

Number Of Residues 164
Number Of SNVs 6
Number Of Permutations 2963
Optimal Distance Threshold 9.0
K Statistic 0.133
p-value 0.869

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 19
Number Of ClinVar SNVs 7
Optimal Distance Threshold 9.0
K Statistic 0.079
p-value 0.791
Cosmic vs. ExAC

Number Of ExAC SNVs 19
Number Of COSMIC SNVs 6
Optimal Distance Threshold 9.0
K Statistic 0.069
p-value 0.802

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants