2R83.B | SYT1

General Structure Information

PDB ID 2r83
HGNC Gene Label(s) SYT1
Structure Name crystal structure analysis of human synaptotagmin 1 c2a-c2b
Resolution 2.7Å
Reference AUTH K.L.FUSON,M.MONTES,J.J.ROBERT,R.B.SUTTONTITL STRUCTURE OF HUMAN SYNAPTOTAGMIN 1 C2AB IN THETITL 2 ABSENCE OF CA2+ REVEALS A NOVEL DOMAIN ASSOCIATION.REF BIOCHEMISTRY V. 46 13041 2007REFN ISSN 0006-2960PMID 17956130DOI 10.1021/BI701651K

Variant Set Distributions

ExAC Variants

Number Of Residues 279
Number Of SNVs 24
Number Of Permutations 3047
Optimal Distance Threshold 18.0
K Statistic 0.326
p-value 0.347
COSMIC

Number Of Residues 279
Number Of SNVs 8
Number Of Permutations 1916
Optimal Distance Threshold 25.0
K Statistic 0.357
p-value 0.674

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs 24
Number Of COSMIC SNVs 8
Optimal Distance Threshold 28.0
K Statistic -0.227
p-value 0.225

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants