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UniProtKB - P68871 (HBB_HUMAN)

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Protein

Hemoglobin subunit beta

Gene

HBB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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.
Spinorphin: 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. 139). 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
Binding sitei22,3-bisphosphoglycerate; via amino nitrogen1
Binding sitei32,3-bisphosphoglycerate1
Metal bindingi64Iron (heme distal ligand)1
Binding sitei832,3-bisphosphoglycerate1
Metal bindingi93Iron (heme proximal ligand)1
Binding sitei1442,3-bisphosphoglycerate1

GO - Molecular functioni

  • heme binding Source: InterPro
  • hemoglobin binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • oxygen binding Source: UniProtKB
  • oxygen carrier activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • bicarbonate transport Source: Reactome
  • blood coagulation Source: Reactome
  • cellular oxidant detoxification Source: GOC
  • hydrogen peroxide catabolic process Source: BHF-UCL
  • neutrophil degranulation Source: Reactome
  • nitric oxide transport Source: UniProtKB
  • oxygen transport Source: UniProtKB
  • platelet aggregation Source: UniProtKB
  • positive regulation of cell death Source: BHF-UCL
  • positive regulation of nitric oxide biosynthetic process Source: UniProtKB
  • protein heterooligomerization Source: BHF-UCL
  • receptor-mediated endocytosis Source: Reactome
  • regulation of blood pressure Source: UniProtKB-KW
  • regulation of blood vessel size Source: UniProtKB-KW
  • renal absorption Source: UniProtKB
  • response to hydrogen peroxide Source: BHF-UCL
View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-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-983231 Factors involved in megakaryocyte development and platelet production
SIGNORiP68871

Protein family/group databases

TCDBi1.A.107.1.2 the pore-forming globin (globin) family

Names & Taxonomyi

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
Gene namesi
Name:HBB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000244734.3
HGNCiHGNC:4827 HBB
MIMi141900 gene+phenotype
neXtProtiNX_P68871

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Heinz body anemias (HEIBAN)4 Publications
The disease may be caused by mutations 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.
See also OMIM:140700
Beta-thalassemia (B-THAL)6 Publications
The disease is caused by mutations 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.
See also OMIM:613985
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 mutations 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.
See also OMIM:603903
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 mutations 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.
See also OMIM:603902

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi3043
GeneReviewsiHBB
MalaCardsiHBB
MIMi140700 phenotype
141900 gene+phenotype
603902 phenotype
603903 phenotype
611162 phenotype
613985 phenotype
OpenTargetsiENSG00000244734
Orphaneti330041 Autosomal dominant methemoglobinemia
231222 Beta-thalassemia intermedia
231214 Beta-thalassemia major
231237 Delta-beta-thalassemia
231226 Dominant beta-thalassemia
178330 Heinz body anemia
231242 Hemoglobin C - beta-thalassemia
2132 Hemoglobin C disease
90039 Hemoglobin D disease
231249 Hemoglobin E - beta-thalassemia
2133 Hemoglobin E disease
330032 Hemoglobin Lepore - beta-thalassemia
46532 Hereditary persistence of fetal hemoglobin - beta-thalassemia
251380 Hereditary persistence of fetal hemoglobin - sickle cell disease
251359 Sickle cell - beta-thalassemia disease
251365 Sickle cell - hemoglobin C disease
251370 Sickle cell - hemoglobin D disease
251375 Sickle cell - hemoglobin E disease
232 Sickle cell anemia
PharmGKBiPA29202

Chemistry databases

ChEMBLiCHEMBL4331
DrugBankiDB07427 2-[(2-methoxy-5-methylphenoxy)methyl]pyridine
DB07428 4-[(5-methoxy-2-methylphenoxy)methyl]pyridine
DB02126 4-Carboxycinnamic Acid
DB00893 Iron Dextran
DB07645 SEBACIC ACID

Polymorphism and mutation databases

BioMutaiHBB
DMDMi56749856

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity1 Publication
ChainiPRO_00000529762 – 147Hemoglobin subunit betaAdd BLAST146
PeptideiPRO_000029664133 – 42LVV-hemorphin-710
PeptideiPRO_000042422633 – 39Spinorphin7

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylvalineBy similarity1
Modified residuei2N-pyruvate 2-iminyl-valine; in Hb A1b1
Glycosylationi2N-linked (Glc) (glycation) valine; in Hb A1c1 Publication1
Glycosylationi9N-linked (Glc) (glycation) lysine1
Modified residuei10PhosphoserineCombined sources1
Modified residuei13PhosphothreonineCombined sources1
Glycosylationi18N-linked (Glc) (glycation) lysine1
Modified residuei45PhosphoserineCombined sources1
Modified residuei51PhosphothreonineCombined sources1
Modified residuei60N6-acetyllysine1 Publication1
Glycosylationi67N-linked (Glc) (glycation) lysine1
Modified residuei83N6-acetyllysine1 Publication1
Modified residuei88PhosphothreonineCombined sources1
Modified residuei94S-nitrosocysteine2 Publications1
Glycosylationi121N-linked (Glc) (glycation) lysine1
Modified residuei145N6-acetyllysine; alternate1 Publication1
Glycosylationi145N-linked (Glc) (glycation) lysine; alternate1

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

EPDiP68871
MaxQBiP68871
PaxDbiP68871
PeptideAtlasiP68871
PRIDEiP68871
ProteomicsDBi12640
57543
TopDownProteomicsiP68871

2D gel databases

REPRODUCTION-2DPAGEiIPI00654755
P68871
SWISS-2DPAGEiP68871
UCD-2DPAGEiP68871

PTM databases

CarbonylDBiP68871
iPTMnetiP68871
PhosphoSitePlusiP68871

Miscellaneous databases

PMAP-CutDBiP68871

Expressioni

Tissue specificityi

Red blood cells.1 Publication

Gene expression databases

BgeeiENSG00000244734
ExpressionAtlasiP68871 baseline and differential
GenevisibleiP68871 HS

Organism-specific databases

HPAiCAB009526
HPA043234

Interactioni

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

Binary interactionsi

Show more details

GO - Molecular functioni

  • hemoglobin binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi109293, 63 interactors
ComplexPortaliCPX-2158 Hemoglobin HbA complex
CPX-2929 Hemoglobin Portland-2 complex
CPX-2936 Hemoglobin HbH complex
DIPiDIP-35526N
IntActiP68871, 11 interactors
STRINGi9606.ENSP00000333994

Structurei

Secondary structure

1147
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi6 – 17Combined sources12
Helixi21 – 35Combined sources15
Helixi37 – 42Combined sources6
Helixi44 – 46Combined sources3
Helixi52 – 57Combined sources6
Helixi59 – 75Combined sources17
Turni78 – 80Combined sources3
Helixi82 – 95Combined sources14
Helixi102 – 119Combined sources18
Helixi120 – 122Combined sources3
Helixi125 – 143Combined sources19
Helixi144 – 146Combined sources3

3D structure databases

ProteinModelPortaliP68871
SMRiP68871
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP68871

Family & Domainsi

Sequence similaritiesi

Belongs to the globin family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3378 Eukaryota
COG1018 LUCA
GeneTreeiENSGT00760000119197
HOVERGENiHBG009709
InParanoidiP68871
KOiK13823
OMAiWTRRFFE
OrthoDBiEOG091G0R7W
PhylomeDBiP68871
TreeFamiTF333268

Family and domain databases

CDDicd08925 Hb-beta_like, 1 hit
Gene3Di1.10.490.10, 1 hit
InterProiView protein in InterPro
IPR000971 Globin
IPR009050 Globin-like_sf
IPR012292 Globin/Proto
IPR002337 Haemoglobin_b
PfamiView protein in Pfam
PF00042 Globin, 1 hit
PRINTSiPR00814 BETAHAEM
SUPFAMiSSF46458 SSF46458, 1 hit
PROSITEiView protein in PROSITE
PS01033 GLOBIN, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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
Checksum:iA31F6D621C6556A1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti26Missing in ACD39349 (Ref. 15) Curated1
Sequence conflicti42F → L in AAR96398 (Ref. 13) Curated1

Mass spectrometryi

Molecular mass is 1310 Da from positions 33 - 42. Determined by FAB. 1 Publication

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:rs35906307EnsemblClinVar.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:rs11549407Ensembl.1
Natural variantiVAR_00292840Q → K in Alabama. 1 PublicationCorresponds to variant dbSNP:rs11549407Ensembl.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:rs34083951Ensembl.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:rs34515413Ensembl.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:rs34013622Ensembl.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:rs34933751Ensembl.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:rs33946775Ensembl.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:
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
UniGeneiHs.523443

Genome annotation databases

EnsembliENST00000335295; ENSP00000333994; ENSG00000244734
ENST00000647020; ENSP00000494175; ENSG00000244734
GeneIDi3043
KEGGihsa:3043
UCSCiuc001mae.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi