2X2U.A | RET

General Structure Information

PDB ID 2x2u
HGNC Gene Label(s) RET
Structure Name first two cadherin-like domains from human ret
Resolution 2.0Å
Reference AUTH S.KJAER,S.HANRAHAN,N.TOTTY,N.Q.MCDONALDTITL MAMMAL-RESTRICTED ELEMENTS PREDISPOSE HUMAN RET TOTITL 2 FOLDING IMPAIRMENT BY HSCR MUTATIONS.REF NAT.STRUCT.MOL.BIOL. V. 17 726 2010REFN ISSN 1545-9993PMID 20473317DOI 10.1038/NSMB.1808

Variant Set Distributions

ExAC Variants

Number Of Residues 232
Number Of SNVs 51
Number Of Permutations 5204
Optimal Distance Threshold 13.0
K Statistic 0.124
p-value 0.21
ClinVar

Number Of Residues 232
Number Of SNVs 4
Number Of Permutations 296
Optimal Distance Threshold 12.0
K Statistic 0.0
p-value 1.0
COSMIC

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 51
Number Of ClinVar SNVs 4
Optimal Distance Threshold 12.0
K Statistic -0.106
p-value 0.914
Cosmic vs. ExAC

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants