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UniProtKB - P68871 (HBB_HUMAN)

Entry version 199 (25 May 2022)
Sequence version 2 (23 Jan 2007)
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Protein

Hemoglobin subunit beta

Gene

HBB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in oxygen transport from the lung to the various peripheral tissues.

1 Publication

LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.

Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.

Miscellaneous

One molecule of 2,3-bisphosphoglycerate can bind to two beta chains per hemoglobin tetramer.

Caution

The modification form of Leu-142 is subject of controversy and could be the artifactual result of sample handling.1 Publication
It is unclear if hemoglobin Beckman (Hb Beckman) is defined by p.Ala136Glu or p.Ala136Asp. Hb Beckman has been originally identified by reverse phase-HPLC and tandem mass spectrometry, and has been reported as variant p.Ala136Glu (Ref. 140). Subsequently, variant p.Ala136Asp has been reported based on HBB gene complete sequencing results (PubMed:19453576). Variant p.Ala136Asp has also been detected by mass spectrometry (PubMed:26209877). Although the name Hb Beckman is currently used for variant p.Ala136Asp, it cannot be ruled out that Hb Beckman is indeed variant p.Ala136Glu (PubMed:19453576).1 Publication3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei22,3-bisphosphoglycerate; via amino nitrogen1
Binding sitei32,3-bisphosphoglycerate1
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei8 – 9(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei26 – 27(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei30 – 31(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei36 – 37(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei38 – 39(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei46 – 47(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei53 – 54(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei57 – 58(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi64Iron (heme b distal ligand)1
Sitei72 – 73(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei75 – 76(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Binding sitei832,3-bisphosphoglycerate1
Sitei85 – 86(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei93 – 94(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Metal bindingi93Iron (heme b proximal ligand)1
Sitei105 – 106(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei111 – 112(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei120 – 121(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei123 – 124(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei129 – 130(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Sitei141 – 142(Microbial infection) Cleavage; by N.americanus apr-21 Publication2
Binding sitei1442,3-bisphosphoglycerate1
Sitei145 – 146(Microbial infection) Cleavage; by N.americanus apr-21 Publication2

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHypotensive agent, Vasoactive
Biological processOxygen transport, Transport
LigandHeme, Iron, Metal-binding, Pyruvate

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P68871

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1237044, Erythrocytes take up carbon dioxide and release oxygen
R-HSA-1247673, Erythrocytes take up oxygen and release carbon dioxide
R-HSA-2168880, Scavenging of heme from plasma
R-HSA-6798695, Neutrophil degranulation
R-HSA-9613829, Chaperone Mediated Autophagy
R-HSA-9615710, Late endosomal microautophagy
R-HSA-9707564, Cytoprotection by HMOX1
R-HSA-9707616, Heme signaling
R-HSA-983231, Factors involved in megakaryocyte development and platelet production

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P68871

SIGNOR Signaling Network Open Resource

More...SIGNORi		P68871

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.107.1.2, the pore-forming globin (globin) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hemoglobin subunit beta
Alternative name(s):
Beta-globin
Hemoglobin beta chain
Cleaved into the following 2 chains:
LVV-hemorphin-7
Spinorphin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HBB
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4827, HBB

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		141900, gene+phenotype

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P68871

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000244734

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Heinz body anemias (HEIBAN)4 Publications
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionForm of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
Related information in OMIM
Beta-thalassemia (B-THAL)6 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00290727E → K in B-THAL; Hb E; confers resistance to severe malaria. 4 PublicationsCorresponds to variant dbSNP:rs33950507EnsemblClinVar.1
Natural variantiVAR_010145115L → P in B-THAL; Durham-N.C./Brescia. 3 PublicationsCorresponds to variant dbSNP:rs36015961EnsemblClinVar.1
Natural variantiVAR_003037116A → D in B-THAL; Hradec Kralove; unstable. 1 PublicationCorresponds to variant dbSNP:rs35485099EnsemblClinVar.1
Natural variantiVAR_003056127V → G in B-THAL; Dhonburi/Neapolis; unstable. 1 PublicationCorresponds to variant dbSNP:rs33925391EnsemblClinVar.1
Sickle cell anemia (SKCA)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionCharacterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0028637E → V in SKCA; Hb S; at heterozygosity confers resistance to malaria. 3 PublicationsCorresponds to variant dbSNP:rs334EnsemblClinVar.1
Beta-thalassemia, dominant, inclusion body type (B-THALIB)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy.
Related information in OMIM

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease variant, Hereditary hemolytic anemia

Organism-specific databases

DisGeNET

More...DisGeNETi		3043

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		HBB

MalaCards human disease database

More...MalaCardsi		HBB
MIMi140700, phenotype
141900, gene+phenotype
603902, phenotype
603903, phenotype
611162, phenotype
613985, phenotype

Open Targets

More...OpenTargetsi		ENSG00000244734

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		231222, Beta-thalassemia intermedia
231214, Beta-thalassemia major
231237, Delta-beta-thalassemia
231226, Dominant beta-thalassemia
2132, Hemoglobin C disease
231242, Hemoglobin C-beta-thalassemia syndrome
90039, Hemoglobin D disease
2133, Hemoglobin E disease
231249, Hemoglobin E-beta-thalassemia syndrome
330032, Hemoglobin Lepore-beta-thalassemia syndrome
330041, Hemoglobin M disease
46532, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
251380, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
232, Sickle cell anemia
251359, Sickle cell-beta-thalassemia disease syndrome
251365, Sickle cell-hemoglobin C disease syndrome
251370, Sickle cell-hemoglobin D disease syndrome
251375, Sickle cell-hemoglobin E disease syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29202

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P68871, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4331

Drug and drug target database

More...DrugBanki		DB08262, 2,6-dicarboxynaphthalene
DB07427, 2-[(2-methoxy-5-methylphenoxy)methyl]pyridine
DB08077, 2-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID
DB07428, 4-[(5-methoxy-2-methylphenoxy)methyl]pyridine
DB02126, 4-Carboxycinnamic Acid
DB09130, Copper
DB08486, Efaproxiral
DB09147, Ferric pyrophosphate
DB13995, Ferric pyrophosphate citrate
DB00893, Iron Dextran
DB09112, Nitrous acid
DB09140, Oxygen
DB06154, Pentaerythritol tetranitrate
DB07645, Sebacic acid
DB09517, Sodium ferric gluconate complex
DB08632, Trimesic acid
DB01593, Zinc
DB14487, Zinc acetate
DB14533, Zinc chloride
DB14548, Zinc sulfate, unspecified form

DrugCentral

More...DrugCentrali		P68871

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HBB

Domain mapping of disease mutations (DMDM)

More...DMDMi		56749856

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000529762 – 147Hemoglobin subunit betaAdd BLAST146
<p>This subsection of the 'PTM / Processing' section describes the position and length of an active peptide in the mature protein.<p><a href='/help/peptide' target='_top'>More...</a></p>PeptideiPRO_000029664133 – 42LVV-hemorphin-710
PeptideiPRO_000042422633 – 39Spinorphin7

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylvalineBy similarity1
Modified residuei2N-pyruvate 2-iminyl-valine; in Hb A1b1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi2N-linked (Glc) (glycation) valine; in Hb A1c1 Publication1
Glycosylationi9N-linked (Glc) (glycation) lysine1 Publication1
Modified residuei10PhosphoserineCombined sources1
Modified residuei13PhosphothreonineCombined sources1
Glycosylationi18N-linked (Glc) (glycation) lysine1 Publication1
Modified residuei45PhosphoserineCombined sources1
Modified residuei51PhosphothreonineCombined sources1
Modified residuei60N6-acetyllysine1 Publication1
Glycosylationi67N-linked (Glc) (glycation) lysine1 Publication1
Modified residuei83N6-acetyllysine1 Publication1
Modified residuei88PhosphothreonineCombined sources1
Modified residuei94S-nitrosocysteine2 Publications1
Glycosylationi121N-linked (Glc) (glycation) lysine1 Publication1
Modified residuei145N6-acetyllysine; alternate1 Publication1
Glycosylationi145N-linked (Glc) (glycation) lysine; alternate1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glucose reacts non-enzymatically with the N-terminus of the beta chain to form a stable ketoamine linkage. This takes place slowly and continuously throughout the 120-day life span of the red blood cell. The rate of glycation is increased in patients with diabetes mellitus.
S-nitrosylated; a nitric oxide group is first bound to Fe2+ and then transferred to Cys-94 to allow capture of O2.3 Publications
Acetylated on Lys-60, Lys-83 and Lys-145 upon aspirin exposure.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei60Not glycated1 Publication1
Sitei83Not glycated1 Publication1
Sitei96Not glycated1 Publication1

Keywords - PTMi

Acetylation, Glycation, Glycoprotein, Phosphoprotein, S-nitrosylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P68871

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P68871

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P68871

MaxQB - The MaxQuant DataBase

More...MaxQBi		P68871

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P68871

PeptideAtlas

More...PeptideAtlasi		P68871

PRoteomics IDEntifications database

More...PRIDEi		P68871

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		57543

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P68871

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00654755
P68871

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...SWISS-2DPAGEi		P68871

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P68871

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P68871

GlyConnect protein glycosylation platform

More...GlyConnecti		2875, 1 O-Linked glycan (3 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P68871, 4 sites, 2 O-linked glycans (4 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P68871

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P68871

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Red blood cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000244734, Expressed in blood and 249 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P68871, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P68871, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000244734, Tissue enriched (bone)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA). Heterotetramer of two zeta chains and two beta chains in hemoglobin Portland-2, detected in fetuses and neonates with homozygous alpha-thalassemia.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109293, 201 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2158, Hemoglobin HbA complex
CPX-2929, Hemoglobin Portland-2 complex
CPX-2936, Hemoglobin HbH complex

Database of interacting proteins

More...DIPi		DIP-35526N

Protein interaction database and analysis system

More...IntActi		P68871, 50 interactors

Molecular INTeraction database

More...MINTi		P68871

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000333994

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P68871, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1147
Legend: HelixTurnBeta strandPDB Structure known for this area
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3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P68871

Biological Magnetic Resonance Data Bank

More...BMRBi		P68871

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P68871

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P68871

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the globin family.PROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3378, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000163476

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_003827_10_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P68871

Identification of Orthologs from Complete Genome Data

More...OMAi		TPDAVMN

Database of Orthologous Groups

More...OrthoDBi		1479834at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P68871

TreeFam database of animal gene trees

More...TreeFami		TF333268

Family and domain databases

Conserved Domains Database

More...CDDi		cd08925, Hb-beta-like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.490.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000971, Globin
IPR009050, Globin-like_sf
IPR012292, Globin/Proto
IPR002337, Hemoglobin_b

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00042, Globin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00814, BETAHAEM

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46458, SSF46458, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01033, GLOBIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

P68871-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVHLTPEEKS AVTALWGKVN VDEVGGEALG RLLVVYPWTQ RFFESFGDLS 
        60         70         80         90        100
TPDAVMGNPK VKAHGKKVLG AFSDGLAHLD NLKGTFATLS ELHCDKLHVD 
       110        120        130        140 
PENFRLLGNV LVCVLAHHFG KEFTPPVQAA YQKVVAGVAN ALAHKYH
Length:147
Mass (Da):15,998
Last modified:January 23, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA31F6D621C6556A1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y7R2A0A2R8Y7R2_HUMAN
Hemoglobin subunit beta
HBB
111Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W6P5F8W6P5_HUMAN
Hemoglobin subunit beta
HBB
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YWK4A0A0J9YWK4_HUMAN
Hemoglobin subunit beta
HBB
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti26Missing in ACD39349 (Ref. 15) Curated1
Sequence conflicti42F → L in AAR96398 (Ref. 13) Curated1

<p>This subsection of the 'Sequence' section reports information derived from mass spectrometry experiments done on the entire protein or on biologically active derived peptide(s).<p><a href='/help/mass_spectrometry' target='_top'>More...</a></p>Mass spectrometryi

Molecular mass is 1310 Da. Determined by FAB. 1 Publication

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variations in HBB are involved in resistance to malaria [MIMi:611162]. Hemoglobin S (Hb S), which at homozygosity is responsible for sickle cell anemia, is not associated with any clinical abnormality when heterozygous. At heterozygosity, Hb S confers an increase in protection from life-threatening malaria. Additional variants conferring resistance against severe malaria are hemoglobin C (Hb C) and hemoglobin E (Hb E).3 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0028562V → A in Raleigh; O(2) affinity down. Corresponds to variant dbSNP:rs33949930EnsemblClinVar.1
Natural variantiVAR_0028573H → L in Graz. 1 PublicationCorresponds to variant dbSNP:rs33983205EnsemblClinVar.1
Natural variantiVAR_0028583H → Q in Okayama; O(2) affinity up. Corresponds to variant dbSNP:rs713040EnsemblClinVar.1
Natural variantiVAR_0028593H → R in Deer Lodge; O(2) affinity up. Corresponds to variant dbSNP:rs33983205EnsemblClinVar.1
Natural variantiVAR_0028603H → Y in Fukuoka. Corresponds to variant dbSNP:rs35906307EnsemblClinVar.1
Natural variantiVAR_0028616P → R in Warwickshire. Corresponds to variant dbSNP:rs34769005EnsemblClinVar.1
Natural variantiVAR_0028627E → A in G-Makassar. Corresponds to variant dbSNP:rs334EnsemblClinVar.1
Natural variantiVAR_0028647E → K in Hb C; confers resistance to severe malaria. 2 PublicationsCorresponds to variant dbSNP:rs33930165EnsemblClinVar.1
Natural variantiVAR_0028657E → Q in Machida. Corresponds to variant dbSNP:rs33930165EnsemblClinVar.1
Natural variantiVAR_0028637E → V in SKCA; Hb S; at heterozygosity confers resistance to malaria. 3 PublicationsCorresponds to variant dbSNP:rs334EnsemblClinVar.1
Natural variantiVAR_0028668E → G in G-San Jose; mildly unstable. Corresponds to variant dbSNP:rs34387455EnsemblClinVar.1
Natural variantiVAR_0028678E → K in G-Siriraj. Corresponds to variant dbSNP:rs34948328EnsemblClinVar.1
Natural variantiVAR_0028689K → E in N-Timone. 1 PublicationCorresponds to variant dbSNP:rs33926764EnsemblClinVar.1
Natural variantiVAR_0028699K → Q in J-Luhe. Corresponds to variant dbSNP:rs33926764EnsemblClinVar.1
Natural variantiVAR_0028709K → T in Rio Grande. 1 PublicationCorresponds to variant dbSNP:rs33932981EnsemblClinVar.1
Natural variantiVAR_00287110S → C in Porto Alegre; O(2) affinity up. Corresponds to variant dbSNP:rs33918131EnsemblClinVar.1
Natural variantiVAR_00287211A → D in Ankara. 1 PublicationCorresponds to variant dbSNP:rs33947457EnsemblClinVar.1
Natural variantiVAR_02539311A → V in Iraq-Halabja. 1 PublicationCorresponds to variant dbSNP:rs33947457EnsemblClinVar.1
Natural variantiVAR_00287312V → D in Windsor; O(2) affinity up; unstable. 1 PublicationCorresponds to variant dbSNP:rs35140348EnsemblClinVar.1
Natural variantiVAR_00287412V → I in Hamilton. Corresponds to variant dbSNP:rs33974228EnsemblClinVar.1
Natural variantiVAR_00287514A → D in J-Lens. Corresponds to variant dbSNP:rs35203747EnsemblClinVar.1
Natural variantiVAR_00287615L → P in Saki; unstable. Corresponds to variant dbSNP:rs33935445EnsemblClinVar.1
Natural variantiVAR_00287715L → R in Soegn; unstable. Corresponds to variant dbSNP:rs33935445EnsemblClinVar.1
Natural variantiVAR_00287816W → G in Randwick; unstable. 1 PublicationCorresponds to variant dbSNP:rs33946157EnsemblClinVar.1
Natural variantiVAR_00287916W → R in Belfast; O(2) affinity up; unstable. Corresponds to variant dbSNP:rs33946157EnsemblClinVar.1
Natural variantiVAR_00288017G → D in J-Baltimore/J-Trinidad/J-Ireland/J-Georgia/N-New Haven. Corresponds to variant dbSNP:rs33962676EnsemblClinVar.1
Natural variantiVAR_00288117G → R in D-Bushman. Corresponds to variant dbSNP:rs63751285EnsemblClinVar.1
Natural variantiVAR_00288218K → E in Nagasaki. Corresponds to variant dbSNP:rs33986703Ensembl.1
Natural variantiVAR_00288318K → N in J-Amiens. Corresponds to variant dbSNP:rs36006214EnsemblClinVar.1
Natural variantiVAR_00288418K → Q in Nikosia. Corresponds to variant dbSNP:rs33986703Ensembl.1
Natural variantiVAR_00288519V → M in Baden; slightly unstable. Corresponds to variant dbSNP:rs35802118EnsemblClinVar.1
Natural variantiVAR_00288620N → D in Alamo. Corresponds to variant dbSNP:rs34866629EnsemblClinVar.1
Natural variantiVAR_00288720N → K in D-Ouleh RABAH. Corresponds to variant dbSNP:rs63750840EnsemblClinVar.1
Natural variantiVAR_00288820N → S in Malay. Corresponds to variant dbSNP:rs33972047EnsemblClinVar.1
Natural variantiVAR_00288921V → M in Olympia; O(2) affinity up. Corresponds to variant dbSNP:rs35890959EnsemblClinVar.1
Natural variantiVAR_00289022D → G in Connecticut; O(2) affinity down. Corresponds to variant dbSNP:rs33977536EnsemblClinVar.1
Natural variantiVAR_00289222D → H in Karlskoga. 1 PublicationCorresponds to variant dbSNP:rs33950093EnsemblClinVar.1
Natural variantiVAR_00289122D → N in Cocody. Corresponds to variant dbSNP:rs33950093EnsemblClinVar.1
Natural variantiVAR_00289322D → Y in Yusa. Corresponds to variant dbSNP:rs33950093EnsemblClinVar.1
Natural variantiVAR_00289423E → A in G-Coushatta/G-Saskatoon/G-Taegu/Hsin Chu. Corresponds to variant dbSNP:rs33936254EnsemblClinVar.1
Natural variantiVAR_00289523E → G in G-Taipei. Corresponds to variant dbSNP:rs33936254EnsemblClinVar.1
Natural variantiVAR_00289623E → K in E-Saskatoon. Corresponds to variant dbSNP:rs33959855EnsemblClinVar.1
Natural variantiVAR_00289723E → Q in D-Iran. Corresponds to variant dbSNP:rs33959855EnsemblClinVar.1
Natural variantiVAR_00289823E → V in D-Granada. Corresponds to variant dbSNP:rs33936254EnsemblClinVar.1
Natural variantiVAR_00289924V → D in Strasbourg; O(2) affinity up. Corresponds to variant dbSNP:rs33945546EnsemblClinVar.1
Natural variantiVAR_00290024V → F in Palmerston North; O(2) affinity up; unstable. 1 PublicationCorresponds to variant dbSNP:rs33929459EnsemblClinVar.1
Natural variantiVAR_00290124V → G in Miyashiro; O(2) affinity up; unstable. 1 PublicationCorresponds to variant dbSNP:rs33945546EnsemblClinVar.1
Natural variantiVAR_06916924Missing in Freiburg. 1 PublicationCorresponds to variant dbSNP:rs34160180Ensembl.1
Natural variantiVAR_00290225G → D in Moscva; O(2) affinity down; unstable. Corresponds to variant dbSNP:rs33968721EnsemblClinVar.1
Natural variantiVAR_00290325G → R in Riverdale-Bronx; O(2) affinity up; unstable. Corresponds to variant dbSNP:rs33972975EnsemblClinVar.1
Natural variantiVAR_00290425G → V in Savannah; unstable. Corresponds to variant dbSNP:rs33968721EnsemblClinVar.1
Natural variantiVAR_00290526G → D in J-Auckland; unstable; O(2) affinity down. 1 PublicationCorresponds to variant dbSNP:rs35474880EnsemblClinVar.1
Natural variantiVAR_00290626G → R in G-Taiwan Ami. Corresponds to variant dbSNP:rs34404985EnsemblClinVar.1
Natural variantiVAR_00290727E → K in B-THAL; Hb E; confers resistance to severe malaria. 4 PublicationsCorresponds to variant dbSNP:rs33950507EnsemblClinVar.1
Natural variantiVAR_00290827E → V in Henri Mondor; slightly unstable. Corresponds to variant dbSNP:rs33915112EnsemblClinVar.1
Natural variantiVAR_00290928A → D in Volga/Drenthe; unstable. Corresponds to variant dbSNP:rs33954632EnsemblClinVar.1
Natural variantiVAR_00291028A → S in Knossos. 1 PublicationCorresponds to variant dbSNP:rs35424040EnsemblClinVar.1
Natural variantiVAR_00291128A → V in Grange-blanche; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33954632EnsemblClinVar.1
Natural variantiVAR_00291229L → P in Genova/Hyogo; unstable. Corresponds to variant dbSNP:rs33916412EnsemblClinVar.1
Natural variantiVAR_03523629L → Q in St Louis. 1 PublicationCorresponds to variant dbSNP:rs33916412EnsemblClinVar.1
Natural variantiVAR_00291330G → D in Lufkin; unstable. Corresponds to variant dbSNP:rs35685286EnsemblClinVar.1
Natural variantiVAR_00291431R → S in Tacoma; unstable. Corresponds to variant dbSNP:rs1135071EnsemblClinVar.1
Natural variantiVAR_00291532L → P in Yokohama; unstable. 1 PublicationCorresponds to variant dbSNP:rs33920173EnsemblClinVar.1
Natural variantiVAR_00291633L → R in Castilla; unstable. Corresponds to variant dbSNP:rs33948578EnsemblClinVar.1
Natural variantiVAR_00291733L → V in Muscat; slightly unstable. 1 PublicationCorresponds to variant dbSNP:rs34314652Ensembl.1
Natural variantiVAR_02539435V → D in Santander; unstable. 1 PublicationCorresponds to variant dbSNP:rs1135101EnsemblClinVar.1
Natural variantiVAR_00291835V → F in Pitie-Salpetriere; O(2) affinity up. Corresponds to variant dbSNP:rs1141387EnsemblClinVar.1
Natural variantiVAR_02539535V → L in Nantes; increased oxygen affinity. 1 PublicationCorresponds to variant dbSNP:rs1141387EnsemblClinVar.1
Natural variantiVAR_00291936Y → F in Philly; O(2) affinity up; unstable. Corresponds to variant dbSNP:rs35857380EnsemblClinVar.1
Natural variantiVAR_00292037P → R in Sunnybrook. Corresponds to variant dbSNP:rs33993004EnsemblClinVar.1
Natural variantiVAR_00292137P → S in North Chicago; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33948615EnsemblClinVar.1
Natural variantiVAR_00292237P → T in Linkoping/Finlandia; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33948615EnsemblClinVar.1
Natural variantiVAR_00292338W → G in Howick. 1 PublicationCorresponds to variant dbSNP:rs33994623EnsemblClinVar.1
Natural variantiVAR_00292538W → R in Rothschild; O(2) affinity down. 1 PublicationCorresponds to variant dbSNP:rs33994623EnsemblClinVar.1
Natural variantiVAR_00292438W → S in Hirose; O(2) affinity up. Corresponds to variant dbSNP:rs33991059EnsemblClinVar.1
Natural variantiVAR_00292639T → N in Hinwil; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs34703513EnsemblClinVar.1
Natural variantiVAR_00292740Q → E in Vaasa; unstable. Corresponds to variant dbSNP:rs11549407EnsemblClinVar.1
Natural variantiVAR_00292840Q → K in Alabama. 1 PublicationCorresponds to variant dbSNP:rs11549407EnsemblClinVar.1
Natural variantiVAR_00292940Q → R in Tianshui. Corresponds to variant dbSNP:rs35973315EnsemblClinVar.1
Natural variantiVAR_00293042F → Y in Mequon. Corresponds to variant dbSNP:rs33926796EnsemblClinVar.1
Natural variantiVAR_03523742Missing in Bruxelles. 1 Publication1
Natural variantiVAR_00293143F → L in Louisville; unstable. 1 PublicationCorresponds to variant dbSNP:rs33924146EnsemblClinVar.1
Natural variantiVAR_03523943F → S in Hammersmith. 1 PublicationCorresponds to variant dbSNP:rs34378160EnsemblClinVar.1
Natural variantiVAR_03523843Missing in Bruxelles. 1 Publication1
Natural variantiVAR_00293244E → Q in Hoshida/Chaya. Corresponds to variant dbSNP:rs33922842EnsemblClinVar.1
Natural variantiVAR_00293345S → C in Mississippi. Corresponds to variant dbSNP:rs34868397EnsemblClinVar.1
Natural variantiVAR_00293446F → S in Cheverly; unstable. Corresponds to variant dbSNP:rs33978338EnsemblClinVar.1
Natural variantiVAR_00293547G → E in K-Ibadan. Corresponds to variant dbSNP:rs35303218EnsemblClinVar.1
Natural variantiVAR_00293648D → A in Avicenna. Corresponds to variant dbSNP:rs33980484EnsemblClinVar.1
Natural variantiVAR_00293748D → G in Gavello. Corresponds to variant dbSNP:rs33980484EnsemblClinVar.1
Natural variantiVAR_00293848D → Y in Maputo. 1 PublicationCorresponds to variant dbSNP:rs33932070EnsemblClinVar.1
Natural variantiVAR_00293949L → P in Bab-Saadoum; slightly unstable. Corresponds to variant dbSNP:rs33952850EnsemblClinVar.1
Natural variantiVAR_00294050S → F in Las Palmas; slightly unstable. 2 PublicationsCorresponds to variant dbSNP:rs33960931EnsemblClinVar.1
Natural variantiVAR_00294151T → K in Edmonton. 1
Natural variantiVAR_00294252P → R in Willamette; O(2) affinity up; unstable. Corresponds to variant dbSNP:rs33969727EnsemblClinVar.1
Natural variantiVAR_00294353D → A in Ocho Rios. Corresponds to variant dbSNP:rs33919924EnsemblClinVar.1
Natural variantiVAR_00294453D → H in Summer Hill. Corresponds to variant dbSNP:rs33961886EnsemblClinVar.1
Natural variantiVAR_00294555V → D in Jacksonville; O(2) affinity up; unstable. 1 PublicationCorresponds to variant dbSNP:rs34037627EnsemblClinVar.1
Natural variantiVAR_00294656M → K in Matera; unstable. 1 PublicationCorresponds to variant dbSNP:rs35094013EnsemblClinVar.1
Natural variantiVAR_00294757G → R in Hamadan. Corresponds to variant dbSNP:rs33935983EnsemblClinVar.1
Natural variantiVAR_00294858N → K in G-ferrara; unstable. Corresponds to variant dbSNP:rs35278874EnsemblClinVar.1
Natural variantiVAR_00294959P → R in Dhofar/Yukuhashi. Corresponds to variant dbSNP:rs33991472EnsemblClinVar.1
Natural variantiVAR_00295060K → E in I-High Wycombe. Corresponds to variant dbSNP:rs33969400EnsemblClinVar.1
Natural variantiVAR_00295161V → A in Collingwood; unstable. Corresponds to variant dbSNP:rs33931779EnsemblClinVar.1
Natural variantiVAR_00295262K → E in N-Seatlle. Corresponds to variant dbSNP:rs33995148EnsemblClinVar.1
Natural variantiVAR_00295362K → M in Bologna; O(2) affinity down. Corresponds to variant dbSNP:rs34974709EnsemblClinVar.1
Natural variantiVAR_00295462K → N in Hikari. Corresponds to variant dbSNP:rs34446260EnsemblClinVar.1
Natural variantiVAR_00295563A → D in J-Europa. 1 PublicationCorresponds to variant dbSNP:rs34151786EnsemblClinVar.1
Natural variantiVAR_00295663A → P in Duarte; unstable. Corresponds to variant dbSNP:rs34933455EnsemblClinVar.1
Natural variantiVAR_00295764H → Y in M-Saskatoon; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33922873EnsemblClinVar.1
Natural variantiVAR_00295866K → M in J-Antakya. 1 PublicationCorresponds to variant dbSNP:rs33932548EnsemblClinVar.1
Natural variantiVAR_00295966K → N in J-Sicilia. 1 PublicationCorresponds to variant dbSNP:rs35747961EnsemblClinVar.1
Natural variantiVAR_00296066K → Q in J-Cairo. 1 PublicationCorresponds to variant dbSNP:rs35353749EnsemblClinVar.1
Natural variantiVAR_07952867K → I in Vigo; O(2) affinity down. 1 Publication1
Natural variantiVAR_00296167K → T in Chico; O(2) affinity down. Corresponds to variant dbSNP:rs35939489EnsemblClinVar.1
Natural variantiVAR_00296268V → A in Sydney; unstable. Corresponds to variant dbSNP:rs33918343EnsemblClinVar.1
Natural variantiVAR_03524068V → D in Bristol. 1 Publication1
Natural variantiVAR_04006068V → G in non-spherocytic haemolytic anemia; Manukau. 1 PublicationCorresponds to variant dbSNP:rs33918343EnsemblClinVar.1
Natural variantiVAR_00296368V → M in Alesha; unstable. 1 PublicationCorresponds to variant dbSNP:rs36008922EnsemblClinVar.1
Natural variantiVAR_00296469L → H in Brisbane; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33972593EnsemblClinVar.1
Natural variantiVAR_00296569L → P in Mizuho; unstable. 1 PublicationCorresponds to variant dbSNP:rs33972593EnsemblClinVar.1
Natural variantiVAR_00296670G → D in Rambam. 1 PublicationCorresponds to variant dbSNP:rs34718174EnsemblClinVar.1
Natural variantiVAR_00296770G → R in Kenitra. Corresponds to variant dbSNP:rs33947415EnsemblClinVar.1
Natural variantiVAR_00296870G → S in City of Hope. 1 PublicationCorresponds to variant dbSNP:rs33947415EnsemblClinVar.1
Natural variantiVAR_00296971A → D in Seattle; O(2) affinity down; unstable. Corresponds to variant dbSNP:rs33946401EnsemblClinVar.1
Natural variantiVAR_00297072F → S in Christchurch; unstable. Corresponds to variant dbSNP:rs34362537EnsemblClinVar.1
Natural variantiVAR_00297174D → G in Tilburg; O(2) affinity down. Corresponds to variant dbSNP:rs33967755EnsemblClinVar.1
Natural variantiVAR_00297274D → V in Mobile; O(2) affinity down. Corresponds to variant dbSNP:rs33967755EnsemblClinVar.1
Natural variantiVAR_00297374D → Y in Vancouver; O(2) affinity down. Corresponds to variant dbSNP:rs33945705EnsemblClinVar.1
Natural variantiVAR_00297475G → R in Aalborg; unstable. Corresponds to variant dbSNP:rs33916541EnsemblClinVar.1
Natural variantiVAR_00297575G → V in Bushwick; unstable. Corresponds to variant dbSNP:rs33976006EnsemblClinVar.1
Natural variantiVAR_00297676L → P in Atlanta; unstable. 1 PublicationCorresponds to variant dbSNP:rs33950542EnsemblClinVar.1
Natural variantiVAR_00297776L → R in Pasadena; O(2) affinity up; unstable. Corresponds to variant dbSNP:rs33950542EnsemblClinVar.1
Natural variantiVAR_00297877A → D in J-Chicago. Corresponds to variant dbSNP:rs33985847EnsemblClinVar.1
Natural variantiVAR_00297978H → D in J-Iran. Corresponds to variant dbSNP:rs33991294EnsemblClinVar.1
Natural variantiVAR_00298078H → R in Costa Rica. 1 PublicationCorresponds to variant dbSNP:rs33952543EnsemblClinVar.1
Natural variantiVAR_00298178H → Y in Fukuyama. Corresponds to variant dbSNP:rs33991294EnsemblClinVar.1
Natural variantiVAR_00298279L → R in Quin-hai. 1 PublicationCorresponds to variant dbSNP:rs34870172EnsemblClinVar.1
Natural variantiVAR_00298380D → Y in Tampa. Corresponds to variant dbSNP:rs33990858EnsemblClinVar.1
Natural variantiVAR_00298481N → K in G-Szuhu/Gifu. Corresponds to variant dbSNP:rs35890380EnsemblClinVar.1
Natural variantiVAR_01266382L → H in La Roche-sur-Yon; unstable and O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33936967EnsemblClinVar.1
Natural variantiVAR_00298582L → R in Baylor; unstable. Corresponds to variant dbSNP:rs33936967EnsemblClinVar.1
Natural variantiVAR_04927382L → V. Corresponds to variant dbSNP:rs11549406Ensembl.1
Natural variantiVAR_00298683K → M in Helsinki; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33987903EnsemblClinVar.1
Natural variantiVAR_01266483K → N in Providence. Corresponds to variant dbSNP:rs33991993EnsemblClinVar.1
Natural variantiVAR_02539684G → D in Pyrgos. 1 PublicationCorresponds to variant dbSNP:rs1803195EnsemblClinVar.1
Natural variantiVAR_00298784G → R in Muskegon. Corresponds to variant dbSNP:rs33930385EnsemblClinVar.1
Natural variantiVAR_00298885T → I in Kofu. 1 PublicationCorresponds to variant dbSNP:rs35914488EnsemblClinVar.1
Natural variantiVAR_00298987A → D in Olomouc; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs35819837EnsemblClinVar.1
Natural variantiVAR_00299088T → I in Quebec-Chori. Corresponds to variant dbSNP:rs33993568EnsemblClinVar.1
Natural variantiVAR_00299188T → K in D-Ibadan. Corresponds to variant dbSNP:rs33993568EnsemblClinVar.1
Natural variantiVAR_00299288T → P in Valletta. Corresponds to variant dbSNP:rs35553496EnsemblClinVar.1
Natural variantiVAR_00299389L → P in Santa Ana; unstable. Corresponds to variant dbSNP:rs33940204EnsemblClinVar.1
Natural variantiVAR_00299489L → R in Boras; unstable. Corresponds to variant dbSNP:rs33940204EnsemblClinVar.1
Natural variantiVAR_00299590S → N in Creteil; O(2) affinity up. Corresponds to variant dbSNP:rs33917628EnsemblClinVar.1
Natural variantiVAR_00299690S → R in Vanderbilt; O(2) affinity up. Corresponds to variant dbSNP:rs35351128EnsemblClinVar.1
Natural variantiVAR_00299791E → D in Pierre-Benite; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs35002698EnsemblClinVar.1
Natural variantiVAR_00299891E → K in Agenogi; O(2) affinity down. Corresponds to variant dbSNP:rs33913712EnsemblClinVar.1
Natural variantiVAR_00299992L → P in Sabine; unstable. Corresponds to variant dbSNP:rs33917785EnsemblClinVar.1
Natural variantiVAR_00300092L → R in Caribbean; O(2) affinity down; unstable. 1 PublicationCorresponds to variant dbSNP:rs33917785EnsemblClinVar.1
Natural variantiVAR_00300193H → D in J-Altgelds Gardens; unstable. 1 PublicationCorresponds to variant dbSNP:rs33924775EnsemblClinVar.1
Natural variantiVAR_00300293H → N in Isehara; unstable. 1 PublicationCorresponds to variant dbSNP:rs33924775EnsemblClinVar.1
Natural variantiVAR_00300393H → P in Newcastle and Duino; associated with S-104 in Duino; unstable. 1 PublicationCorresponds to variant dbSNP:rs33974325EnsemblClinVar.1
Natural variantiVAR_00300493H → Q in Istambul; unstable. 1 PublicationCorresponds to variant dbSNP:rs34083951EnsemblClinVar.1
Natural variantiVAR_00300594C → R in Okazaki; O(2) affinity up; unstable. Corresponds to variant dbSNP:rs33972927EnsemblClinVar.1
Natural variantiVAR_00300695D → G in Chandigarh. Corresponds to variant dbSNP:rs34579351EnsemblClinVar.1
Natural variantiVAR_00300795D → H in Barcelona; O(2) affinity up. Corresponds to variant dbSNP:rs33959340EnsemblClinVar.1
Natural variantiVAR_00300895D → N in Bunbury; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33959340EnsemblClinVar.1
Natural variantiVAR_00300996K → M in J-Cordoba. Corresponds to variant dbSNP:rs35204496EnsemblClinVar.1
Natural variantiVAR_00301096K → N in Detroit. Corresponds to variant dbSNP:rs36038739EnsemblClinVar.1
Natural variantiVAR_00301197L → P in Debrousse; unstable; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs36081208EnsemblClinVar.1
Natural variantiVAR_00301297L → V in Regina; O(2) affinity up. Corresponds to variant dbSNP:rs34665886EnsemblClinVar.1
Natural variantiVAR_00301398H → L in Wood; O(2) affinity up. Corresponds to variant dbSNP:rs33951978EnsemblClinVar.1
Natural variantiVAR_00301498H → P in Nagoya; O(2) affinity up; unstable. 1 PublicationCorresponds to variant dbSNP:rs33951978EnsemblClinVar.1
Natural variantiVAR_00301598H → Q in Malmoe; O(2) affinity up. Corresponds to variant dbSNP:rs34515413EnsemblClinVar.1
Natural variantiVAR_00301698H → Y in Moriguchi. Corresponds to variant dbSNP:rs33950993EnsemblClinVar.1
Natural variantiVAR_00301799V → G in Nottingham; unstable. Corresponds to variant dbSNP:rs33985510EnsemblClinVar.1
Natural variantiVAR_003018100D → E in Coimbra; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs34013622EnsemblClinVar.1
Natural variantiVAR_003019101P → L in Brigham; O(2) affinity up. Corresponds to variant dbSNP:rs33965000EnsemblClinVar.1
Natural variantiVAR_003020101P → R in New Mexico. Corresponds to variant dbSNP:rs33965000EnsemblClinVar.1
Natural variantiVAR_003021102E → D in Potomac; O(2) affinity up. Corresponds to variant dbSNP:rs35209591EnsemblClinVar.1
Natural variantiVAR_003022102E → G in Alberta; O(2) affinity up. Corresponds to variant dbSNP:rs33937393EnsemblClinVar.1
Natural variantiVAR_003023102E → K in British Columbia; O(2) affinity up. Corresponds to variant dbSNP:rs33966487EnsemblClinVar.1
Natural variantiVAR_003024102E → Q in Rush; unstable. 1 PublicationCorresponds to variant dbSNP:rs33966487EnsemblClinVar.1
Natural variantiVAR_003025103N → S in Beth Israel; O(2) affinity down; unstable. Corresponds to variant dbSNP:rs33948057EnsemblClinVar.1
Natural variantiVAR_003026103N → Y in St Mande; O(2) affinity down. 1 PublicationCorresponds to variant dbSNP:rs33927739EnsemblClinVar.1
Natural variantiVAR_003027104F → L in Heathrow; O(2) affinity up. Corresponds to variant dbSNP:rs35067717EnsemblClinVar.1
Natural variantiVAR_003028105R → S in Camperdown and Duino; associated with P-92 in Duino; unstable. 2 PublicationsCorresponds to variant dbSNP:rs33914944EnsemblClinVar.1
Natural variantiVAR_003029105R → T in Sherwood Forest. Corresponds to variant dbSNP:rs33911434EnsemblClinVar.1
Natural variantiVAR_003030108G → R in Burke; O(2) affinity down; unstable. 1 PublicationCorresponds to variant dbSNP:rs35017910EnsemblClinVar.1
Natural variantiVAR_003031109N → K in Presbyterian; O(2) affinity down; unstable. 1 PublicationCorresponds to variant dbSNP:rs34933751EnsemblClinVar.1
Natural variantiVAR_003032110V → M in San Diego; O(2) affinity up. Corresponds to variant dbSNP:rs33969677EnsemblClinVar.1
Natural variantiVAR_003033111L → P in Showa-Yakushiji. Corresponds to variant dbSNP:rs35256489EnsemblClinVar.1
Natural variantiVAR_003034112V → A in Stanmore; O(2) affinity down; unstable. 1 PublicationCorresponds to variant dbSNP:rs35871407EnsemblClinVar.1
Natural variantiVAR_025397113C → F in Canterbury. 1 PublicationCorresponds to variant dbSNP:rs33932908EnsemblClinVar.1
Natural variantiVAR_003035113C → R in Indianapolis. 2 PublicationsCorresponds to variant dbSNP:rs35849199EnsemblClinVar.1
Natural variantiVAR_003036113C → Y in Yahata. 1 PublicationCorresponds to variant dbSNP:rs33932908EnsemblClinVar.1
Natural variantiVAR_010144115L → M in Zengcheng. 1 PublicationCorresponds to variant dbSNP:rs33917394EnsemblClinVar.1
Natural variantiVAR_010145115L → P in B-THAL; Durham-N.C./Brescia. 3 PublicationsCorresponds to variant dbSNP:rs36015961EnsemblClinVar.1
Natural variantiVAR_003037116A → D in B-THAL; Hradec Kralove; unstable. 1 PublicationCorresponds to variant dbSNP:rs35485099EnsemblClinVar.1
Natural variantiVAR_003038116A → P in Madrid; unstable. Corresponds to variant dbSNP:rs34945623EnsemblClinVar.1
Natural variantiVAR_025398117H → L in Vexin; increased oxygen affinity. 1 PublicationCorresponds to variant dbSNP:rs33978082Ensembl.1
Natural variantiVAR_003039117H → Q in Hafnia. Corresponds to variant dbSNP:rs35209776EnsemblClinVar.1
Natural variantiVAR_003040118H → P in Saitama; unstable. 1 PublicationCorresponds to variant dbSNP:rs33935673EnsemblClinVar.1
Natural variantiVAR_003041118H → R in P-Galveston. Corresponds to variant dbSNP:rs33935673EnsemblClinVar.1
Natural variantiVAR_025399118H → Y in Tsukumi. 1 PublicationCorresponds to variant dbSNP:rs33935527Ensembl.1
Natural variantiVAR_003042120G → A in Iowa. Corresponds to variant dbSNP:rs33947020EnsemblClinVar.1
Natural variantiVAR_003043121K → E in Hijiyama. Corresponds to variant dbSNP:rs33924134EnsemblClinVar.1
Natural variantiVAR_003044121K → I in Jianghua. 1 PublicationCorresponds to variant dbSNP:rs34303736EnsemblClinVar.1
Natural variantiVAR_003045121K → Q in Takamatsu. Corresponds to variant dbSNP:rs33924134EnsemblClinVar.1
Natural variantiVAR_003046122E → A in D-Neath. 1 PublicationCorresponds to variant dbSNP:rs33987957EnsemblClinVar.1
Natural variantiVAR_003047122E → G in St Francis. Corresponds to variant dbSNP:rs33987957EnsemblClinVar.1
Natural variantiVAR_003049122E → K in O-Arab. Corresponds to variant dbSNP:rs33946267EnsemblClinVar.1
Natural variantiVAR_003048122E → Q in D-Los Angeles/D-Punjab/D-Portugal/D-Chicago/D-Oak Ridge. Corresponds to variant dbSNP:rs33946267EnsemblClinVar.1
Natural variantiVAR_003050122E → V in D-Camperdown/Beograd. Corresponds to variant dbSNP:rs33987957EnsemblClinVar.1
Natural variantiVAR_003051124T → I in Villejuif; asymptomatic variant. 1 PublicationCorresponds to variant dbSNP:rs33935383EnsemblClinVar.1
Natural variantiVAR_003053125P → Q in Ty Gard; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33983276EnsemblClinVar.1
Natural variantiVAR_003052125P → R in Khartoum; unstable. Corresponds to variant dbSNP:rs33983276EnsemblClinVar.1
Natural variantiVAR_003054125P → S in Tunis. Corresponds to variant dbSNP:rs35461710EnsemblClinVar.1
Natural variantiVAR_003055127V → A in Beirut. Corresponds to variant dbSNP:rs33925391EnsemblClinVar.1
Natural variantiVAR_003057127V → E in Hofu; unstable. Corresponds to variant dbSNP:rs33925391EnsemblClinVar.1
Natural variantiVAR_003056127V → G in B-THAL; Dhonburi/Neapolis; unstable. 1 PublicationCorresponds to variant dbSNP:rs33925391EnsemblClinVar.1
Natural variantiVAR_003058128Q → E in Complutense. 1 PublicationCorresponds to variant dbSNP:rs33971634EnsemblClinVar.1
Natural variantiVAR_003059128Q → K in Brest; unstable. 1 PublicationCorresponds to variant dbSNP:rs33971634EnsemblClinVar.1
Natural variantiVAR_003060129A → D in J-Guantanamo; unstable. Corresponds to variant dbSNP:rs33957286EnsemblClinVar.1
Natural variantiVAR_003061130A → P in Crete; O(2) affinity up; unstable. Corresponds to variant dbSNP:rs35939430EnsemblClinVar.1
Natural variantiVAR_003062130A → V in La Desirade; O(2) affinity down; unstable. 1 PublicationCorresponds to variant dbSNP:rs111645889EnsemblClinVar.1
Natural variantiVAR_003063131Y → D in Wien; unstable. Corresponds to variant dbSNP:rs35834416EnsemblClinVar.1
Natural variantiVAR_003064131Y → S in Nevers. Corresponds to variant dbSNP:rs33937535EnsemblClinVar.1
Natural variantiVAR_003065132Q → E in Camden/Tokuchi/Motown. Corresponds to variant dbSNP:rs33910209EnsemblClinVar.1
Natural variantiVAR_003066132Q → K in Shelby/Leslie/Deaconess; unstable. 1 PublicationCorresponds to variant dbSNP:rs33910209EnsemblClinVar.1
Natural variantiVAR_003067132Q → P in Shangai; unstable. Corresponds to variant dbSNP:rs33950778EnsemblClinVar.1
Natural variantiVAR_003068132Q → R in Sarrebourg; unstable. Corresponds to variant dbSNP:rs33950778EnsemblClinVar.1
Natural variantiVAR_003069133K → N in Yamagata; O(2) affinity down. Corresponds to variant dbSNP:rs33946775EnsemblClinVar.1
Natural variantiVAR_003070133K → Q in K-Woolwich. Corresponds to variant dbSNP:rs33953406EnsemblClinVar.1
Natural variantiVAR_003071134V → L in Extredemura. Corresponds to variant dbSNP:rs34095019EnsemblClinVar.1
Natural variantiVAR_003072135V → E in North Shore-Caracas; unstable. 1 PublicationCorresponds to variant dbSNP:rs33966761EnsemblClinVar.1
Natural variantiVAR_003073136A → D in Beckman; originally reported as E-136; O(2) affinity down; unstable. 3 PublicationsCorresponds to variant dbSNP:rs35669628EnsemblClinVar.1
Natural variantiVAR_003074136A → P in Altdorf; O(2) affinity up; unstable. Corresponds to variant dbSNP:rs35492035EnsemblClinVar.1
Natural variantiVAR_003075137G → D in Hope; O(2) affinity down; unstable. Corresponds to variant dbSNP:rs33949486EnsemblClinVar.1
Natural variantiVAR_003076139A → P in Brockton; unstable. Corresponds to variant dbSNP:rs33919821EnsemblClinVar.1
Natural variantiVAR_003077140N → D in Geelong; unstable. 1 PublicationCorresponds to variant dbSNP:rs33910475EnsemblClinVar.1
Natural variantiVAR_003078140N → K in Hinsdale; O(2) affinity down. 1 PublicationCorresponds to variant dbSNP:rs34240441EnsemblClinVar.1
Natural variantiVAR_025335140N → S in S-Wake; associated with V-6. 1 Publication1
Natural variantiVAR_003079140N → Y in Aurora; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33910475EnsemblClinVar.1
Natural variantiVAR_003080141A → D in Himeji; unstable; O(2) affinity down. 1 PublicationCorresponds to variant dbSNP:rs33927093EnsemblClinVar.1
Natural variantiVAR_003081141A → T in St Jacques; O(2) affinity up. Corresponds to variant dbSNP:rs34980264EnsemblClinVar.1
Natural variantiVAR_003082141A → V in Puttelange; polycythemia; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33927093EnsemblClinVar.1
Natural variantiVAR_003083142L → R in Olmsted; unstable. Corresponds to variant dbSNP:rs35854892EnsemblClinVar.1
Natural variantiVAR_003084143A → D in Ohio; O(2) affinity up. Corresponds to variant dbSNP:rs33921821EnsemblClinVar.1
Natural variantiVAR_003085144H → D in Rancho Mirage. Corresponds to variant dbSNP:rs33929415EnsemblClinVar.1
Natural variantiVAR_003087144H → P in Syracuse; O(2) affinity up. Corresponds to variant dbSNP:rs33918338EnsemblClinVar.1
Natural variantiVAR_003086144H → Q in Little Rock; O(2) affinity up. Corresponds to variant dbSNP:rs36020563Ensembl.1
Natural variantiVAR_003088144H → R in Abruzzo; O(2) affinity up. Corresponds to variant dbSNP:rs33918338EnsemblClinVar.1
Natural variantiVAR_003089145K → E in Mito; O(2) affinity up. Corresponds to variant dbSNP:rs33964352EnsemblClinVar.1
Natural variantiVAR_003090146Y → C in Rainier; O(2) affinity up. Corresponds to variant dbSNP:rs35117167EnsemblClinVar.1
Natural variantiVAR_003091146Y → H in Bethesda; O(2) affinity up. Corresponds to variant dbSNP:rs33949869EnsemblClinVar.1
Natural variantiVAR_003092147H → D in Hiroshima; O(2) affinity up. Corresponds to variant dbSNP:rs33961444EnsemblClinVar.1
Natural variantiVAR_003093147H → L in Cowtown; O(2) affinity up. Corresponds to variant dbSNP:rs33954264EnsemblClinVar.1
Natural variantiVAR_003094147H → P in York; O(2) affinity up. Corresponds to variant dbSNP:rs33954264EnsemblClinVar.1
Natural variantiVAR_003095147H → Q in Kodaira; O(2) affinity up. 1 PublicationCorresponds to variant dbSNP:rs33985739EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M25079 mRNA Translation: AAA35597.1
V00499 Genomic DNA Translation: CAA23758.1
DQ126270 Genomic DNA Translation: AAZ39745.1
DQ126271 Genomic DNA Translation: AAZ39746.1
DQ126272 Genomic DNA Translation: AAZ39747.1
DQ126273 Genomic DNA Translation: AAZ39748.1
DQ126274 Genomic DNA Translation: AAZ39749.1
DQ126275 Genomic DNA Translation: AAZ39750.1
DQ126276 Genomic DNA Translation: AAZ39751.1
DQ126277 Genomic DNA Translation: AAZ39752.1
DQ126278 Genomic DNA Translation: AAZ39753.1
DQ126279 Genomic DNA Translation: AAZ39754.1
DQ126280 Genomic DNA Translation: AAZ39755.1
DQ126281 Genomic DNA Translation: AAZ39756.1
DQ126282 Genomic DNA Translation: AAZ39757.1
DQ126283 Genomic DNA Translation: AAZ39758.1
DQ126284 Genomic DNA Translation: AAZ39759.1
DQ126285 Genomic DNA Translation: AAZ39760.1
DQ126286 Genomic DNA Translation: AAZ39761.1
DQ126287 Genomic DNA Translation: AAZ39762.1
DQ126288 Genomic DNA Translation: AAZ39763.1
DQ126289 Genomic DNA Translation: AAZ39764.1
DQ126290 Genomic DNA Translation: AAZ39765.1
DQ126291 Genomic DNA Translation: AAZ39766.1
DQ126292 Genomic DNA Translation: AAZ39767.1
DQ126293 Genomic DNA Translation: AAZ39768.1
DQ126294 Genomic DNA Translation: AAZ39769.1
DQ126295 Genomic DNA Translation: AAZ39770.1
DQ126296 Genomic DNA Translation: AAZ39771.1
DQ126297 Genomic DNA Translation: AAZ39772.1
DQ126298 Genomic DNA Translation: AAZ39773.1
DQ126299 Genomic DNA Translation: AAZ39774.1
DQ126300 Genomic DNA Translation: AAZ39775.1
DQ126301 Genomic DNA Translation: AAZ39776.1
DQ126302 Genomic DNA Translation: AAZ39777.1
DQ126303 Genomic DNA Translation: AAZ39778.1
DQ126304 Genomic DNA Translation: AAZ39779.1
DQ126305 Genomic DNA Translation: AAZ39780.1
DQ126306 Genomic DNA Translation: AAZ39781.1
DQ126307 Genomic DNA Translation: AAZ39782.1
DQ126308 Genomic DNA Translation: AAZ39783.1
DQ126309 Genomic DNA Translation: AAZ39784.1
DQ126310 Genomic DNA Translation: AAZ39785.1
DQ126311 Genomic DNA Translation: AAZ39786.1
DQ126312 Genomic DNA Translation: AAZ39787.1
DQ126313 Genomic DNA Translation: AAZ39788.1
DQ126314 Genomic DNA Translation: AAZ39789.1
DQ126315 Genomic DNA Translation: AAZ39790.1
DQ126316 Genomic DNA Translation: AAZ39791.1
DQ126317 Genomic DNA Translation: AAZ39792.1
DQ126318 Genomic DNA Translation: AAZ39793.1
DQ126319 Genomic DNA Translation: AAZ39794.1
DQ126320 Genomic DNA Translation: AAZ39795.1
DQ126321 Genomic DNA Translation: AAZ39796.1
DQ126322 Genomic DNA Translation: AAZ39797.1
DQ126323 Genomic DNA Translation: AAZ39798.1
DQ126324 Genomic DNA Translation: AAZ39799.1
DQ126325 Genomic DNA Translation: AAZ39800.1
AF007546 Genomic DNA Translation: AAB62944.1
AF083883 Genomic DNA Translation: AAL68978.1
AF117710 mRNA Translation: AAD19696.1
AF181989 mRNA Translation: AAF00489.1
AF349114 mRNA Translation: AAK29639.1
AF527577 Genomic DNA Translation: AAM92001.1
AY136510 mRNA Translation: AAN11320.1
AY163866 Genomic DNA Translation: AAN84548.1
AY260740 Genomic DNA Translation: AAP21062.1
AY509193 mRNA Translation: AAR96398.1
EF450778 Genomic DNA Translation: ABO36678.1
EU694432 mRNA Translation: ACD39349.1
AK311825 mRNA Translation: BAG34767.1
CR536530 mRNA Translation: CAG38767.1
CR541913 mRNA Translation: CAG46711.1
CH471064 Genomic DNA Translation: EAW68806.1
BC007075 mRNA Translation: AAH07075.1
U01317 Genomic DNA Translation: AAA16334.1
V00497 mRNA Translation: CAA23756.1
V00500 mRNA Translation: CAA23759.1 Sequence problems.
L26462 Genomic DNA Translation: AAA21100.1
L26463 Genomic DNA Translation: AAA21101.1
L26464 Genomic DNA Translation: AAA21102.1
L26465 Genomic DNA Translation: AAA21103.1
L26466 Genomic DNA Translation: AAA21104.1
L26467 Genomic DNA Translation: AAA21105.1
L26468 Genomic DNA Translation: AAA21106.1
L26469 Genomic DNA Translation: AAA21107.1
L26470 Genomic DNA Translation: AAA21108.1
L26471 Genomic DNA Translation: AAA21109.1
L26472 Genomic DNA Translation: AAA21110.1
L26473 Genomic DNA Translation: AAA21111.1
L26474 Genomic DNA Translation: AAA21112.1
L26475 Genomic DNA Translation: AAA21113.1
L26476 Genomic DNA Translation: AAA21114.1
L26477 Genomic DNA Translation: AAA21115.1
L26478 Genomic DNA Translation: AAA21116.1
L48213 Genomic DNA Translation: AAA88063.1
L48214 Genomic DNA Translation: AAA88061.1
L48215 Genomic DNA Translation: AAA88059.1
L48216 Genomic DNA Translation: AAA88065.1
L48217 Genomic DNA Translation: AAA88067.1
M36640 Genomic DNA Translation: AAA52634.1
M11428 mRNA Translation: AAA52633.1
M25113 mRNA Translation: AAA35966.1
L48932 Genomic DNA Translation: AAA88054.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7753.1

Protein sequence database of the Protein Information Resource

More...PIRi		A53136, HBHU

NCBI Reference Sequences

More...RefSeqi		NP_000509.1, NM_000518.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000335295.4; ENSP00000333994.3; ENSG00000244734.4
ENST00000647020.1; ENSP00000494175.1; ENSG00000244734.4

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3043

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3043

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000335295.4; ENSP00000333994.3; NM_000518.5; NP_000509.1

UCSC genome browser

More...UCSCi		uc001mae.2, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

HbVar

Human hemoglobin variants and thalassemias

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Hemoglobin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M25079 mRNA Translation: AAA35597.1
V00499 Genomic DNA Translation: CAA23758.1
DQ126270 Genomic DNA Translation: AAZ39745.1
DQ126271 Genomic DNA Translation: AAZ39746.1
DQ126272 Genomic DNA Translation: AAZ39747.1
DQ126273 Genomic DNA Translation: AAZ39748.1
DQ126274 Genomic DNA Translation: AAZ39749.1
DQ126275 Genomic DNA Translation: AAZ39750.1
DQ126276 Genomic DNA Translation: AAZ39751.1
DQ126277 Genomic DNA Translation: AAZ39752.1
DQ126278 Genomic DNA Translation: AAZ39753.1
DQ126279 Genomic DNA Translation: AAZ39754.1
DQ126280 Genomic DNA Translation: AAZ39755.1
DQ126281 Genomic DNA Translation: AAZ39756.1
DQ126282 Genomic DNA Translation: AAZ39757.1
DQ126283 Genomic DNA Translation: AAZ39758.1
DQ126284 Genomic DNA Translation: AAZ39759.1
DQ126285 Genomic DNA Translation: AAZ39760.1
DQ126286 Genomic DNA Translation: AAZ39761.1
DQ126287 Genomic DNA Translation: AAZ39762.1
DQ126288 Genomic DNA Translation: AAZ39763.1
DQ126289 Genomic DNA Translation: AAZ39764.1
DQ126290 Genomic DNA Translation: AAZ39765.1
DQ126291 Genomic DNA Translation: AAZ39766.1
DQ126292 Genomic DNA Translation: AAZ39767.1
DQ126293 Genomic DNA Translation: AAZ39768.1
DQ126294 Genomic DNA Translation: AAZ39769.1
DQ126295 Genomic DNA Translation: AAZ39770.1
DQ126296 Genomic DNA Translation: AAZ39771.1
DQ126297 Genomic DNA Translation: AAZ39772.1
DQ126298 Genomic DNA Translation: AAZ39773.1
DQ126299 Genomic DNA Translation: AAZ39774.1
DQ126300 Genomic DNA Translation: AAZ39775.1
DQ126301 Genomic DNA Translation: AAZ39776.1
DQ126302 Genomic DNA Translation: AAZ39777.1
DQ126303 Genomic DNA Translation: AAZ39778.1
DQ126304 Genomic DNA Translation: AAZ39779.1
DQ126305 Genomic DNA Translation: AAZ39780.1
DQ126306 Genomic DNA Translation: AAZ39781.1
DQ126307 Genomic DNA Translation: AAZ39782.1
DQ126308 Genomic DNA Translation: AAZ39783.1
DQ126309 Genomic DNA Translation: AAZ39784.1
DQ126310 Genomic DNA Translation: AAZ39785.1
DQ126311 Genomic DNA Translation: AAZ39786.1
DQ126312 Genomic DNA Translation: AAZ39787.1
DQ126313 Genomic DNA Translation: AAZ39788.1
DQ126314 Genomic DNA Translation: AAZ39789.1
DQ126315 Genomic DNA Translation: AAZ39790.1
DQ126316 Genomic DNA Translation: AAZ39791.1
DQ126317 Genomic DNA Translation: AAZ39792.1
DQ126318 Genomic DNA Translation: AAZ39793.1
DQ126319 Genomic DNA Translation: AAZ39794.1
DQ126320 Genomic DNA Translation: AAZ39795.1
DQ126321 Genomic DNA Translation: AAZ39796.1
DQ126322 Genomic DNA Translation: AAZ39797.1
DQ126323 Genomic DNA Translation: AAZ39798.1
DQ126324 Genomic DNA Translation: AAZ39799.1
DQ126325 Genomic DNA Translation: AAZ39800.1
AF007546 Genomic DNA Translation: AAB62944.1
AF083883 Genomic DNA Translation: AAL68978.1
AF117710 mRNA Translation: AAD19696.1
AF181989 mRNA Translation: AAF00489.1
AF349114 mRNA Translation: AAK29639.1
AF527577 Genomic DNA Translation: AAM92001.1
AY136510 mRNA Translation: AAN11320.1
AY163866 Genomic DNA Translation: AAN84548.1
AY260740 Genomic DNA Translation: AAP21062.1
AY509193 mRNA Translation: AAR96398.1
EF450778 Genomic DNA Translation: ABO36678.1
EU694432 mRNA Translation: ACD39349.1
AK311825 mRNA Translation: BAG34767.1
CR536530 mRNA Translation: CAG38767.1
CR541913 mRNA Translation: CAG46711.1
CH471064 Genomic DNA Translation: EAW68806.1
BC007075 mRNA Translation: AAH07075.1
U01317 Genomic DNA Translation: AAA16334.1
V00497 mRNA Translation: CAA23756.1
V00500 mRNA Translation: CAA23759.1 Sequence problems.
L26462 Genomic DNA Translation: AAA21100.1
L26463 Genomic DNA Translation: AAA21101.1
L26464 Genomic DNA Translation: AAA21102.1
L26465 Genomic DNA Translation: AAA21103.1
L26466 Genomic DNA Translation: AAA21104.1
L26467 Genomic DNA Translation: AAA21105.1
L26468 Genomic DNA Translation: AAA21106.1
L26469 Genomic DNA Translation: AAA21107.1
L26470 Genomic DNA Translation: AAA21108.1
L26471 Genomic DNA Translation: AAA21109.1
L26472 Genomic DNA Translation: AAA21110.1
L26473 Genomic DNA Translation: AAA21111.1
L26474 Genomic DNA Translation: AAA21112.1
L26475 Genomic DNA Translation: AAA21113.1
L26476 Genomic DNA Translation: AAA21114.1
L26477 Genomic DNA Translation: AAA21115.1
L26478 Genomic DNA Translation: AAA21116.1
L48213 Genomic DNA Translation: AAA88063.1
L48214 Genomic DNA Translation: AAA88061.1
L48215 Genomic DNA Translation: AAA88059.1
L48216 Genomic DNA Translation: AAA88065.1
L48217 Genomic DNA Translation: AAA88067.1
M36640 Genomic DNA Translation: AAA52634.1
M11428 mRNA Translation: AAA52633.1
M25113 mRNA Translation: AAA35966.1
L48932 Genomic DNA Translation: AAA88054.1
CCDSiCCDS7753.1
PIRiA53136, HBHU
RefSeqiNP_000509.1, NM_000518.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A00X-ray2.00B/D3-147[»]
1A01X-ray1.80B/D3-147[»]
1A0UX-ray2.14B/D3-147[»]
1A0ZX-ray2.00B/D3-147[»]
1A3NX-ray1.80B/D2-147[»]
1A3OX-ray1.80B/D2-147[»]
1ABWX-ray2.00B/D3-147[»]
1ABYX-ray2.60B/D3-147[»]
1AJ9X-ray2.20B2-147[»]
1B86X-ray2.50B/D2-147[»]
1BABX-ray1.50B/D2-147[»]
1BBBX-ray1.70B/D2-147[»]
1BIJX-ray2.30B/D2-147[»]
1BUWX-ray1.90B/D2-147[»]
1BZ0X-ray1.50B/D2-147[»]
1BZ1X-ray1.59B/D2-147[»]
1BZZX-ray1.59B/D2-147[»]
1C7BX-ray1.80B/D2-147[»]
1C7CX-ray1.80B/D2-147[»]
1C7DX-ray1.80B/D2-147[»]
1CBLX-ray1.80A/B/C/D2-147[»]
1CBMX-ray1.74A/B/C/D2-147[»]
1CH4X-ray2.50A/B/C/D2-146[»]
1CLSX-ray1.90B/D2-147[»]
1CMYX-ray3.00B/D2-147[»]
1COHX-ray2.90B/D2-147[»]
1DKEX-ray2.10B/D2-147[»]
1DXTX-ray1.70B/D1-147[»]
1DXUX-ray1.70B/D3-147[»]
1DXVX-ray1.70B/D3-147[»]
1FN3X-ray2.48B/D2-147[»]
1G9VX-ray1.85B/D2-147[»]
1GBUX-ray1.80B/D2-147[»]
1GBVX-ray2.00B/D2-147[»]
1GLIX-ray2.50B/D3-147[»]
1GZXX-ray2.10B/D2-147[»]
1HABX-ray2.30B/D2-147[»]
1HACX-ray2.60B/D2-147[»]
1HBAX-ray2.10B/D2-147[»]
1HBBX-ray1.90B/D2-147[»]
1HBSX-ray3.00B/D/F/H2-147[»]
1HCOX-ray2.70B2-147[»]
1HDBX-ray2.20B/D2-147[»]
1HGAX-ray2.10B/D2-147[»]
1HGBX-ray2.10B/D2-147[»]
1HGCX-ray2.10B/D2-147[»]
1HHOX-ray2.10B2-147[»]
1IRDX-ray1.25B2-147[»]
1J3YX-ray1.55B/D/F/H2-147[»]
1J3ZX-ray1.60B/D/F/H2-147[»]
1J40X-ray1.45B/D/F/H2-147[»]
1J41X-ray1.45B/D/F/H2-147[»]
1J7SX-ray2.20B/D2-147[»]
1J7WX-ray2.00B/D2-147[»]
1J7YX-ray1.70B/D2-147[»]
1JY7X-ray3.20B/D/Q/S/V/X2-147[»]
1K0YX-ray1.87B/D2-147[»]
1K1KX-ray2.00B2-147[»]
1KD2X-ray1.87B/D2-147[»]
1LFLX-ray2.70B/D/Q/S2-147[»]
1LFQX-ray2.60B2-147[»]
1LFTX-ray2.60B2-147[»]
1LFVX-ray2.80B2-147[»]
1LFYX-ray3.30B2-147[»]
1LFZX-ray3.10B2-147[»]
1LJWX-ray2.16B2-147[»]
1M9PX-ray2.10B/D2-147[»]
1MKOX-ray2.18B/D2-147[»]
1NEJX-ray2.10B/D2-147[»]
1NIHX-ray2.60B/D2-147[»]
1NQPX-ray1.73B/D2-147[»]
1O1IX-ray2.30B2-147[»]
1O1JX-ray1.90B/D2-147[»]
1O1KX-ray2.00B/D2-147[»]
1O1LX-ray1.80B/D2-147[»]
1O1MX-ray1.85B/D2-147[»]
1O1NX-ray1.80B/D2-147[»]
1O1OX-ray1.80B/D2-147[»]
1O1PX-ray1.80B/D2-147[»]
1QI8X-ray1.80B/D3-147[»]
1QSHX-ray1.70B/D2-147[»]
1QSIX-ray1.70B/D2-147[»]
1QXDX-ray2.25B/D2-147[»]
1QXEX-ray1.85B/D2-147[»]
1R1XX-ray2.15B2-147[»]
1R1YX-ray1.80B/D2-147[»]
1RPSX-ray2.11B/D2-147[»]
1RQ3X-ray1.91B/D2-147[»]
1RQ4X-ray2.11B/D2-147[»]
1RQAX-ray2.11B/D2-147[»]
1RVWX-ray2.50B2-147[»]
1SDKX-ray1.80B/D2-147[»]
1SDLX-ray1.80B/D2-147[»]
1THBX-ray1.50B/D2-147[»]
1UIWX-ray1.50B/D/F/H2-147[»]
1VWTX-ray1.90B/D2-147[»]
1XXTX-ray1.91B/D2-147[»]
1XY0X-ray1.99B/D