1HYN.S | SLC4A1

General Structure Information

PDB ID 1hyn
HGNC Gene Label(s) SLC4A1
Structure Name crystal structure of the cytoplasmic domain of human erythrocyte band-3 protein
Resolution 2.6Å
Reference AUTH D.ZHANG,A.KIYATKIN,J.T.BOLIN,P.S.LOWTITL CRYSTALLOGRAPHIC STRUCTURE AND FUNCTIONALTITL 2 INTERPRETATION OF THE CYTOPLASMIC DOMAIN OFTITL 3 ERYTHROCYTE MEMBRANE BAND 3.REF BLOOD V. 96 2925 2000REFN ISSN 0006-4971PMID 11049968

Variant Set Distributions

ExAC Variants

Number Of Residues 293
Number Of SNVs 77
Number Of Permutations 31049
Optimal Distance Threshold 13.0
K Statistic 0.137
p-value 0.127
ClinVar

Number Of Residues 293
Number Of SNVs 4
Number Of Permutations 599
Optimal Distance Threshold 18.0
K Statistic 0.0
p-value 0.306
COSMIC

Number Of Residues 293
Number Of SNVs 9
Number Of Permutations 600
Optimal Distance Threshold 4.0
K Statistic 0.028
p-value 0.009

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 77
Number Of ClinVar SNVs 4
Optimal Distance Threshold 17.0
K Statistic -0.257
p-value 0.103
Cosmic vs. ExAC

Number Of ExAC SNVs 77
Number Of COSMIC SNVs 7
Optimal Distance Threshold 9.0
K Statistic 0.141
p-value 0.076

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants