1XYE.D | HBB

General Structure Information

PDB ID 1xye
HGNC Gene Label(s) HBB
Structure Name t-to-thigh transitions in human hemoglobin: alpha y42a deoxy low salt
Resolution 2.13Å
Reference AUTH J.S.KAVANAUGH,P.H.ROGERS,A.ARNONE,H.L.HUI,AUTH 2 A.WIERZBA,A.DEYOUNG,L.D.KWIATKOWSKI,R.W.NOBLE,AUTH 3 L.J.JUSZCZAK,E.S.PETERSON,J.M.FRIEDMANTITL INTERSUBUNIT INTERACTIONS ASSOCIATED WITHTITL 2 TYR42ALPHA STABILIZE THE QUATERNARY-T TETRAMER BUTTITL 3 ARE NOT MAJOR QUATERNARY CONSTRAINTS INTITL 4 DEOXYHEMOGLOBINREF BIOCHEMISTRY V. 44 3806 2005REFN ISSN 0006-2960PMID 15751957DOI 10.1021/BI0484670

Variant Set Distributions

ExAC Variants

Number Of Residues 146
Number Of SNVs 43
Number Of Permutations 3629
Optimal Distance Threshold 7.0
K Statistic 0.061
p-value 0.344
ClinVar

Number Of Residues 146
Number Of SNVs 132
Number Of Permutations 5629
Optimal Distance Threshold 9.0
K Statistic 0.087
p-value 0.153
COSMIC

Number Of Residues 146
Number Of SNVs 3
Number Of Permutations 77
Optimal Distance Threshold 14.0
K Statistic 0.667
p-value 0.267

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs 43
Number Of ClinVar SNVs 102
Optimal Distance Threshold 6.0
K Statistic -0.007
p-value 0.709
Cosmic vs. ExAC

Number Of ExAC SNVs 43
Number Of COSMIC SNVs 3
Optimal Distance Threshold 19.0
K Statistic 0.456
p-value 0.421

Pathogenic Proximity Analysis

ClinVar PathProx Analysis
COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

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2WTK|STRADA,CAB39,STK11