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Hemoglobin subunit delta (Delta-globin) (Hemoglobin delta chain)

 HBD_HUMAN               Reviewed;         147 AA.
P02042; Q3Y5H3; Q8WXT7;
21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
23-JAN-2007, sequence version 2.
27-SEP-2017, entry version 175.
RecName: Full=Hemoglobin subunit delta;
AltName: Full=Delta-globin;
AltName: Full=Hemoglobin delta chain;
Name=HBD;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=7438204; DOI=10.1016/0092-8674(80)90427-4;
Spritz R.A., Deriel J.K., Forget B.G., Weissman S.M.;
"Complete nucleotide sequence of the human delta-globin gene.";
Cell 21:639-646(1980).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT SER-5.
Webster M.T., Harding R.M., Wells R.S., Clegg J.B.;
"Heterogeneous patterns of sequence variation in the human beta-globin
gene cluster.";
Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [MRNA].
Lee T., Gubin A., Miller J.L.;
"Alternate delta globin transcript.";
Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT TROODOS CYS-117.
TISSUE=Blood;
PubMed=16370491; DOI=10.1080/03630260500310828;
Eram S.M., Azimifar S.B., Abolghassemi H., Foulady P., Lotfi V.,
Masroury M., Hosseini M., Abdolhosseini A.;
"The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos
[Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal
diagnosis in an Iranian family.";
Hemoglobin 29:289-292(2005).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Blood;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
PROTEIN SEQUENCE OF 2-147, AND CLEAVAGE OF INITIATOR METHIONINE.
PubMed=680638;
Braunitzer G., Schrank B., Stangl A., Grillemeier M.;
"Hemoglobins, XXIII. Note on the sequence of the delta-chains of human
hemoglobin.";
Hoppe-Seyler's Z. Physiol. Chem. 359:777-783(1978).
[7]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-51, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[9]
X-RAY CRYSTALLOGRAPHY (1.88 ANGSTROMS) IN COMPLEX WITH HEME AND HBA,
AND SUBUNIT.
PubMed=15449937; DOI=10.1021/bi048903i;
Sen U., Dasgupta J., Choudhury D., Datta P., Chakrabarti A.,
Chakrabarty S.B., Chakrabarty A., Dattagupta J.K.;
"Crystal structures of HbA2 and HbE and modeling of hemoglobin delta
4: interpretation of the thermal stability and the antisickling effect
of HbA2 and identification of the ferrocyanide binding site in Hb.";
Biochemistry 43:12477-12488(2004).
[10]
VARIANT DELTA' ARG-17.
PubMed=5956309; DOI=10.1038/2091217a0;
Ball E.W., Meynell M.J., Beale D., Kynoch P., Lehmann H.,
Strelton A.O.W.;
"Haemoglobin A2: alpha-2-delta-2-16 glycine-->arginine.";
Nature 209:1217-1218(1966).
[11]
VARIANT BABINGA ASP-137.
PubMed=5678016; DOI=10.1038/2191360a0;
de Jong W.W.W., Bernini L.F.;
"Haemoglobin Babinga (delta 136 glycine-aspartic acid): a new delta
chain variant.";
Nature 219:1360-1362(1968).
[12]
VARIANT NYU LYS-13.
PubMed=5824070; DOI=10.1172/JCI106171;
Ranney H.M., Jacobs A.S., Ramot B., Bradley T.B. Jr.;
"Hemoglobin NYU, a delta chain variant, alpha 2 delta 2 Lys.";
J. Clin. Invest. 48:2057-2062(1969).
[13]
VARIANT INDONESIA ARG-70.
PubMed=4995018;
Lie-Injo L.E., Pribadi W., Westendorp-Boerma F., Efremov G.D.,
Wilson J.B., Reynolds C.A., Huisman T.H.J.;
"Hemoglobin A2-Indonesia or alpha 2 delta 2 69(E13) Gly-->Arg.";
Biochim. Biophys. Acta 229:335-342(1971).
[14]
VARIANT MELBOURNE LYS-44.
PubMed=4850239;
Sharma R.S., Harding D.L., Wong S.D., Wilson J.B., Gravely M.E.,
Huisman T.H.J.;
"A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2
43Glu-Lys(CD2).";
Biochim. Biophys. Acta 359:233-235(1974).
[15]
VARIANT COBURG HIS-117.
PubMed=1148221;
Sharma R.S., Williams L., Wilson J.B., Huisman T.H.J.;
"Hemoglobin-A2-Coburg or alpha2delta2116Arg leads to His (G18).";
Biochim. Biophys. Acta 393:379-382(1975).
[16]
VARIANT ROOSEVELT GLU-21.
PubMed=952968; DOI=10.1016/0005-2795(76)90089-1;
Rieder R.F., Clegg J.B., Weiss H.J., Christy N.P., Rabinowitz R.;
"Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu.";
Biochim. Biophys. Acta 439:501-504(1976).
[17]
VARIANT CANADA ASN-100.
PubMed=7129931; DOI=10.3109/03630268208991698;
Salkie M.L., Gordon P.A., Rigal W.M., Lam H., Wilson J.B.,
Headlee M.E., Huisman T.H.J.;
"Hb A2-Canada or alpha 2 delta 2 99(G1) Asp replaced by Asn, a newly
discovered delta chain variant with increased oxygen affinity
occurring in cis to beta-thalassemia.";
Hemoglobin 6:223-231(1982).
[18]
VARIANT MANZANARES VAL-122.
PubMed=6629825;
Romero Garcia C., Navarro J.L., Lam H., Webber B.B., Headlee M.G.,
Wilson J.B., Huisman T.H.J.;
"Hb A2-Manzanares or alpha 2 delta 2 121 (GH4) Glu replaced by Val, an
unstable delta chain variant observed in a Spanish family.";
Hemoglobin 7:435-442(1983).
[19]
VARIANT ZAGREB GLU-126.
PubMed=6629826; DOI=10.3109/03630268309038413;
Juricic D., Crepinko I., Efremov G.D., Lam H., Webber B.B.,
Headlee M.G., Huisman T.H.J.;
"Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new
delta chain variant in association with delta beta-thalassemia.";
Hemoglobin 7:443-448(1983).
[20]
VARIANT VICTORIA ASP-25.
PubMed=6469695; DOI=10.3109/03630268408991709;
Brennan S.O., Williamson D., Smith M.B., Cauchi M.N., Macphee A.,
Carrell R.W.;
"HbA2 Victoria delta 24 (B6) Gly-->Asp. A new delta chain variant
occurring with beta-thalassemia.";
Hemoglobin 8:163-168(1984).
[21]
VARIANT FITZROY ASP-143.
PubMed=6548205; DOI=10.3109/03630268408991715;
Williamson D., Brennan S.O., Strosberg H., Whitty J., Carrell R.W.;
"Hemoglobin A2 Fitzroy delta 142 Ala-->Asp: a new delta-chain
variant.";
Hemoglobin 8:325-332(1984).
[22]
VARIANT HONAI VAL-91.
PubMed=2869009; DOI=10.3109/03630268508997040;
Fujita S., Ohta Y., Saito S., Kobayashi Y., Naritomi Y., Kawaguchi T.,
Imamura T., Wada Y., Hayashi A.;
"Hemoglobin A2 Honai (alpha 2 delta 2(90)(F6)Glu-->Val): a new delta
chain variant.";
Hemoglobin 9:597-607(1985).
[23]
VARIANT YOKOSHIMA ASP-26.
PubMed=3841531; DOI=10.3109/03630268508997042;
Ohba Y., Igarashi M., Tsukahara M., Nakashima M., Sanada C., Ami M.,
Arai Y., Miyaji T.;
"Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly-->Asp, a new delta chain
variant found in a Japanese family.";
Hemoglobin 9:613-615(1985).
[24]
VARIANT WRENS MET-99.
PubMed=2477064; DOI=10.1016/0167-4781(89)90083-3;
Codrington J.F., Kutlar F., Harris H.F., Wilson J.B., Stoming T.A.,
Huisman T.H.J.;
"Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val-->Met, an unstable delta
chain variant identified by sequence analysis of amplified DNA.";
Biochim. Biophys. Acta 1009:87-89(1989).
[25]
VARIANT YIALOUSA SER-28, VARIANT CORFU CYS-117, AND VARIANT PELENDRI
PRO-142.
PubMed=1742490;
Trifillis P., Ioannou P., Schwartz E., Surrey S.;
"Identification of four novel delta-globin gene mutations in Greek
Cypriots using polymerase chain reaction and automated fluorescence-
based DNA sequence analysis.";
Blood 78:3298-3305(1991).
[26]
VARIANT NIIGATA ALA-2, AND ACETYLATION AT ALA-2 (VARIANT NIIGATA).
PubMed=1787103; DOI=10.3109/03630269109027889;
Harano T., Harano K., Kushida Y., Ueda S., Kawakami H.;
"Hb A2-Niigata [delta 1(NA1)Val-->Ala]: a new delta chain variant
found in the Japanese population.";
Hemoglobin 15:335-339(1991).
[27]
VARIANT PARKVILLE VAL-48.
PubMed=1802883; DOI=10.3109/03630269108998860;
Leung H., Gilbert A.T., Fleming P.J., Wong J., Hughes W.G.,
Hussein S., Nash A.R.;
"Hb A2-Parkville or delta 47(CD6)Asp-->Val, a new delta chain
variant.";
Hemoglobin 15:407-416(1991).
[28]
VARIANT CORFU CYS-117.
PubMed=2066116; DOI=10.1007/BF00204193;
Loudianos G., Murru S., Kanavakis E., Metaxotou-Mavromati A.,
Theodoropoulou D., Kattamis C., Cao A., Pirastu M.;
"A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116
Arg-->Cys (G18), detected by delta-globin gene analysis in a Greek
family.";
Hum. Genet. 87:237-238(1991).
[29]
VARIANT ILE-5, AND VARIANT YIALOUSA SER-28.
PubMed=8364213;
Trifillis P., Kyrri A., Kalogirou E., Kokkofitou A., Ioannou P.,
Schwartz E., Surrey S.;
"Analysis of delta-globin gene mutations in Greek cypriots.";
Blood 82:1647-1651(1993).
[30]
VARIANT GROVETOWN VAL-76.
PubMed=8330984; DOI=10.3109/03630269308998907;
Molchanova T.P., Postnikov Y.V., Gu L.-H., Huisman T.H.J.;
"Hb A2-Grovetown or alpha 2 delta (2)75(E19)Leu-->Val.";
Hemoglobin 17:289-291(1993).
[31]
VARIANT PUGLIA ASP-27.
PubMed=8401543; DOI=10.1002/humu.1380020417;
Loudianos G., Porcu S., Cossu P., Tannoia N., Vitucci A.,
Campanale D., Cao A., Pirastu M.;
"A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26
Glu-->Asp (B8), detected by DNA analysis in a family of southern
Italian origin.";
Hum. Mutat. 2:327-329(1993).
[32]
VARIANT SANT' ANTIOCO GLY-94.
PubMed=7713748; DOI=10.3109/03630269409045776;
Galanello R., Gasperini D., Perseu L., Barella S., Ideo A., Cao A.;
"Hb A2-Sant' Antioco alpha 2 delta (2)93(F9)Cys-->Gly: a new delta
chain variant identified by sequencing of amplified DNA.";
Hemoglobin 18:437-439(1994).
[33]
VARIANT AGRINIO GLY-44.
PubMed=8537235; DOI=10.3109/03630269509005818;
Papadakis M., Drakoulakou O., Papapanagiotou E., Pessini D.,
Loutradi-Anagnostou A.;
"Hb A2-Agrinio [delta 43(CD2)Glu-->Gly(GAG-->GGG)]: a new delta chain
variant detected in a Greek family.";
Hemoglobin 19:295-299(1995).
[34]
VARIANT PYLOS GLY-12, AND VARIANT ETOLIA SER-86.
PubMed=9101295;
DOI=10.1002/(SICI)1098-1004(1997)9:4<344::AID-HUMU7>3.0.CO;2-5;
Drakoulakou O., Papapanagiotou E., Loutradi-Anagnostou A.,
Papadakis M.;
"Delta-thalassemic phenotype due to two 'novel' delta-globin gene
mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-
HbA2-Etolia].";
Hum. Mutat. 9:344-347(1997).
[35]
VARIANT MONREALE ARG-147.
PubMed=11939506; DOI=10.1081/HEM-120002934;
De Angioletti M., Di Girgenti C., Messineo R., Capra M., Carestia C.;
"Hb A2-Monreale delta146(HC3)His-->Arg, a novel delta chain variant
detected in west Sicily.";
Hemoglobin 26:1-5(2002).
[36]
VARIANT METAPONTO HIS-37, VARIANT CAMPANIA LYS-58, VARIANT LUCANIA
VAL-89, AND VARIANT CAPRI SER-105.
PubMed=12402333; DOI=10.1002/humu.10132;
De Angioletti M., Lacerra G., Gaudiano C., Mastrolonardo G.,
Pagano L., Mastrullo L., Masciandaro S., Carestia C.;
"Epidemiology of the delta globin alleles in southern Italy shows
complex molecular, genetic, and phenotypic features.";
Hum. Mutat. 20:358-367(2002).
[37]
VARIANT NINIVE ALA-134.
PubMed=15921167; DOI=10.1081/HEM-58593;
Frischknecht H., Dutly F.;
"Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala]
and a delta(+)-thalassemia mutation [-31 (A-->G)] in the TATA box of
the delta-globin gene.";
Hemoglobin 29:151-154(2005).
[38]
VARIANT MUMC/CORLEONE ASP-11.
PubMed=16370490; DOI=10.1080/03630260500310794;
Walker L., Patterson M., Eng B., McFarlane A., Waye J.S.;
"Identification of a new delta chain hemoglobin variant in a beta-
thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp].";
Hemoglobin 29:285-287(2005).
[39]
VARIANT CATANIA LEU-3, VARIANT MUMC/CORLEONE ASP-11, VARIANT
VENTIMIGLIA GLY-71, VARIANT MONTECHIARO LYS-88, AND VARIANT BAGHERIA
VAL-141.
PubMed=17145605;
Giambona A., Passarello C., Ruggeri G., Renda D., Teresi P., Anza M.,
Maggio A.;
"Analysis of delta-globin gene alleles in the Sicilian population:
identification of five new mutations.";
Haematologica 91:1681-1684(2006).
-!- FUNCTION: Involved in oxygen transport from the lung to the
various peripheral tissues.
-!- SUBUNIT: Heterotetramer of two alpha chains and two delta chains
in adult hemoglobin A2 (HbA2). HbA2 represents less than 3.5% of
adult hemoglobin. {ECO:0000269|PubMed:15449937}.
-!- INTERACTION:
P09105:HBQ1; NbExp=3; IntAct=EBI-6152722, EBI-10193656;
P02008:HBZ; NbExp=5; IntAct=EBI-6152722, EBI-719843;
-!- TISSUE SPECIFICITY: Red blood cells.
-!- SIMILARITY: Belongs to the globin family. {ECO:0000255|PROSITE-
ProRule:PRU00238}.
-!- WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and
thalassemias;
URL="http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBD";
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EMBL; U01317; AAA16333.1; -; Genomic_DNA.
EMBL; V00505; CAA23763.1; -; Genomic_DNA.
EMBL; AF339401; AAL72102.1; -; Genomic_DNA.
EMBL; AF339402; AAL72103.1; -; Genomic_DNA.
EMBL; AF339403; AAL72104.1; -; Genomic_DNA.
EMBL; AF339404; AAL72105.1; -; Genomic_DNA.
EMBL; AF339405; AAL72106.1; -; Genomic_DNA.
EMBL; AF339406; AAL72107.1; -; Genomic_DNA.
EMBL; AF339407; AAL72108.1; -; Genomic_DNA.
EMBL; AF339408; AAL72109.1; -; Genomic_DNA.
EMBL; AF339409; AAL72110.1; -; Genomic_DNA.
EMBL; AF339410; AAL72111.1; -; Genomic_DNA.
EMBL; AF339411; AAL72112.1; -; Genomic_DNA.
EMBL; AF339412; AAL72113.1; -; Genomic_DNA.
EMBL; AF339413; AAL72114.1; -; Genomic_DNA.
EMBL; AF339414; AAL72115.1; -; Genomic_DNA.
EMBL; AF339415; AAL72116.1; -; Genomic_DNA.
EMBL; AF339416; AAL72117.1; -; Genomic_DNA.
EMBL; AF339417; AAL72118.1; -; Genomic_DNA.
EMBL; AY034468; AAK68847.1; -; mRNA.
EMBL; DQ157442; AAZ83699.1; -; Genomic_DNA.
EMBL; BC069307; AAH69307.1; -; mRNA.
EMBL; BC070282; AAH70282.1; -; mRNA.
CCDS; CCDS31376.1; -.
PIR; A90804; HDHU.
RefSeq; NP_000510.1; NM_000519.3.
UniGene; Hs.699280; -.
PDB; 1SHR; X-ray; 1.88 A; B/D=2-147.
PDB; 1SI4; X-ray; 2.20 A; B/D=2-147.
PDBsum; 1SHR; -.
PDBsum; 1SI4; -.
ProteinModelPortal; P02042; -.
SMR; P02042; -.
BioGrid; 109295; 21.
IntAct; P02042; 5.
STRING; 9606.ENSP00000369654; -.
iPTMnet; P02042; -.
PhosphoSitePlus; P02042; -.
BioMuta; HBD; -.
REPRODUCTION-2DPAGE; IPI00473011; -.
UCD-2DPAGE; P02042; -.
EPD; P02042; -.
MaxQB; P02042; -.
PaxDb; P02042; -.
PeptideAtlas; P02042; -.
PRIDE; P02042; -.
TopDownProteomics; P02042; -.
DNASU; 3045; -.
Ensembl; ENST00000380299; ENSP00000369654; ENSG00000223609.
GeneID; 3045; -.
KEGG; hsa:3045; -.
UCSC; uc001maf.2; human.
CTD; 3045; -.
DisGeNET; 3045; -.
EuPathDB; HostDB:ENSG00000223609.7; -.
GeneCards; HBD; -.
HGNC; HGNC:4829; HBD.
HPA; CAB037087; -.
HPA; HPA043234; -.
MalaCards; HBD; -.
MIM; 142000; gene.
neXtProt; NX_P02042; -.
OpenTargets; ENSG00000223609; -.
Orphanet; 231237; Delta-beta-thalassemia.
Orphanet; 330032; Hemoglobin Lepore - beta-thalassemia.
PharmGKB; PA29204; -.
eggNOG; KOG3378; Eukaryota.
eggNOG; COG1018; LUCA.
GeneTree; ENSGT00760000119197; -.
HOGENOM; HOG000036868; -.
HOVERGEN; HBG009709; -.
InParanoid; P02042; -.
KO; K16151; -.
OMA; IVIVMAH; -.
OrthoDB; EOG091G0R7W; -.
PhylomeDB; P02042; -.
TreeFam; TF333268; -.
Reactome; R-HSA-983231; Factors involved in megakaryocyte development and platelet production.
SIGNOR; P02042; -.
EvolutionaryTrace; P02042; -.
GeneWiki; HBD; -.
GenomeRNAi; 3045; -.
PRO; PR:P02042; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000223609; -.
CleanEx; HS_HBD; -.
ExpressionAtlas; P02042; baseline and differential.
Genevisible; P02042; HS.
GO; GO:0072562; C:blood microparticle; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0005833; C:hemoglobin complex; TAS:ProtInc.
GO; GO:0020037; F:heme binding; IEA:InterPro.
GO; GO:0005506; F:iron ion binding; IEA:InterPro.
GO; GO:0019825; F:oxygen binding; IEA:InterPro.
GO; GO:0005344; F:oxygen transporter activity; IEA:UniProtKB-KW.
GO; GO:0007596; P:blood coagulation; TAS:Reactome.
CDD; cd08925; Hb-beta_like; 1.
InterPro; IPR000971; Globin.
InterPro; IPR009050; Globin-like.
InterPro; IPR002337; Haemoglobin_b.
Pfam; PF00042; Globin; 1.
PRINTS; PR00814; BETAHAEM.
SUPFAM; SSF46458; SSF46458; 1.
PROSITE; PS01033; GLOBIN; 1.
1: Evidence at protein level;
3D-structure; Acetylation; Complete proteome;
Direct protein sequencing; Heme; Iron; Metal-binding;
Oxygen transport; Phosphoprotein; Polymorphism; Reference proteome;
Transport.
INIT_MET 1 1 Removed. {ECO:0000269|PubMed:1787103,
ECO:0000269|PubMed:680638}.
CHAIN 2 147 Hemoglobin subunit delta.
/FTId=PRO_0000053167.
METAL 64 64 Iron (heme distal ligand).
{ECO:0000250|UniProtKB:P80044}.
METAL 93 93 Iron (heme proximal ligand).
{ECO:0000244|PDB:1SHR,
ECO:0000244|PDB:1SI4,
ECO:0000269|PubMed:15449937}.
MOD_RES 2 2 N-acetylalanine; in variant Niigata.
{ECO:0000269|PubMed:1787103}.
MOD_RES 51 51 Phosphoserine.
{ECO:0000244|PubMed:24275569}.
VARIANT 2 2 V -> A (in Niigata; dbSNP:rs34991152).
{ECO:0000269|PubMed:1787103}.
/FTId=VAR_003096.
VARIANT 3 3 H -> L (in Catania; dbSNP:rs35433207).
{ECO:0000269|PubMed:17145605}.
/FTId=VAR_030499.
VARIANT 3 3 H -> R (in Sphakia; dbSNP:rs35433207).
/FTId=VAR_003097.
VARIANT 5 5 T -> I (in dbSNP:rs35406175).
{ECO:0000269|PubMed:8364213}.
/FTId=VAR_018740.
VARIANT 5 5 T -> S (in haplotype T11; Kenya;
dbSNP:rs35406175). {ECO:0000269|Ref.2}.
/FTId=VAR_018741.
VARIANT 11 11 A -> D (in MUMC/Corleone).
{ECO:0000269|PubMed:16370490,
ECO:0000269|PubMed:17145605}.
/FTId=VAR_030500.
VARIANT 12 12 V -> G (in Pylos; dbSNP:rs34090605).
{ECO:0000269|PubMed:9101295}.
/FTId=VAR_030501.
VARIANT 13 13 N -> K (in NYU; dbSNP:rs34313675).
{ECO:0000269|PubMed:5824070}.
/FTId=VAR_003098.
VARIANT 17 17 G -> R (in Delta'; dbSNP:rs34012192).
{ECO:0000269|PubMed:5956309}.
/FTId=VAR_003099.
VARIANT 21 21 V -> E (in Roosevelt; dbSNP:rs34093840).
{ECO:0000269|PubMed:952968}.
/FTId=VAR_003100.
VARIANT 23 23 A -> E (in Flatbush; dbSNP:rs35395083).
/FTId=VAR_003101.
VARIANT 25 25 G -> D (in Victoria; dbSNP:rs34460332).
{ECO:0000269|PubMed:6469695}.
/FTId=VAR_003102.
VARIANT 26 26 G -> D (in Yokoshima; dbSNP:rs34389944).
{ECO:0000269|PubMed:3841531}.
/FTId=VAR_003103.
VARIANT 27 27 E -> D (in Puglia; dbSNP:rs34289459).
{ECO:0000269|PubMed:8401543}.
/FTId=VAR_003104.
VARIANT 28 28 A -> S (in Yialousa; dbSNP:rs35152987).
{ECO:0000269|PubMed:1742490,
ECO:0000269|PubMed:8364213}.
/FTId=VAR_003105.
VARIANT 37 37 P -> H (in Metaponto; dbSNP:rs34383555).
{ECO:0000269|PubMed:12402333}.
/FTId=VAR_030502.
VARIANT 44 44 E -> G (in Agrinio; dbSNP:rs36084266).
{ECO:0000269|PubMed:8537235}.
/FTId=VAR_003106.
VARIANT 44 44 E -> K (in Melbourne; dbSNP:rs35166721).
{ECO:0000269|PubMed:4850239}.
/FTId=VAR_003107.
VARIANT 48 48 D -> V (in Parkville; dbSNP:rs34977235).
{ECO:0000269|PubMed:1802883}.
/FTId=VAR_003108.
VARIANT 52 52 P -> R (in Adria; dbSNP:rs34489183).
/FTId=VAR_003109.
VARIANT 58 58 N -> K (in Campania; dbSNP:rs35666685).
{ECO:0000269|PubMed:12402333}.
/FTId=VAR_030503.
VARIANT 70 70 G -> R (in Indonesia; dbSNP:rs35913713).
{ECO:0000269|PubMed:4995018}.
/FTId=VAR_003110.
VARIANT 71 71 A -> G (in Ventimiglia;
dbSNP:rs63750423).
{ECO:0000269|PubMed:17145605}.
/FTId=VAR_030504.
VARIANT 76 76 L -> V (in Grovetown; dbSNP:rs34430836).
{ECO:0000269|PubMed:8330984}.
/FTId=VAR_003111.
VARIANT 86 86 F -> S (in Etolia; dbSNP:rs35633566).
{ECO:0000269|PubMed:9101295}.
/FTId=VAR_030505.
VARIANT 88 88 Q -> K (in Montechiaro;
dbSNP:rs63750674).
{ECO:0000269|PubMed:17145605}.
/FTId=VAR_030506.
VARIANT 89 89 L -> V (in Lucania; dbSNP:rs34933313).
{ECO:0000269|PubMed:12402333}.
/FTId=VAR_030507.
VARIANT 91 91 E -> V (in Honai; dbSNP:rs34420481).
{ECO:0000269|PubMed:2869009}.
/FTId=VAR_003112.
VARIANT 94 94 C -> G (in Sant' Antioco;
dbSNP:rs28933077).
{ECO:0000269|PubMed:7713748}.
/FTId=VAR_014277.
VARIANT 99 99 V -> M (in Wrens; unstable;
dbSNP:rs28933076).
{ECO:0000269|PubMed:2477064}.
/FTId=VAR_003113.
VARIANT 100 100 D -> N (in Canada; O(2) affinity up;
dbSNP:rs35329985).
{ECO:0000269|PubMed:7129931}.
/FTId=VAR_003114.
VARIANT 105 105 R -> S (in Capri; dbSNP:rs34390965).
{ECO:0000269|PubMed:12402333}.
/FTId=VAR_030508.
VARIANT 117 117 R -> C (in Corfu/Troodos;
dbSNP:rs33971270).
{ECO:0000269|PubMed:16370491,
ECO:0000269|PubMed:1742490,
ECO:0000269|PubMed:2066116}.
/FTId=VAR_003115.
VARIANT 117 117 R -> H (in Coburg; dbSNP:rs34536353).
{ECO:0000269|PubMed:1148221}.
/FTId=VAR_003116.
VARIANT 118 118 N -> D (in LiangCheng; dbSNP:rs36049174).
/FTId=VAR_003117.
VARIANT 122 122 E -> V (in Manzanares; unstable;
dbSNP:rs35790721).
{ECO:0000269|PubMed:6629825}.
/FTId=VAR_003118.
VARIANT 126 126 Q -> E (in Zagreb; dbSNP:rs36078803).
{ECO:0000269|PubMed:6629826}.
/FTId=VAR_003119.
VARIANT 134 134 V -> A (in Ninive; dbSNP:rs34802738).
{ECO:0000269|PubMed:15921167}.
/FTId=VAR_030509.
VARIANT 137 137 G -> D (in Babinga; dbSNP:rs35849348).
{ECO:0000269|PubMed:5678016}.
/FTId=VAR_003120.
VARIANT 141 141 A -> V (in Bagheria; dbSNP:rs63750461).
{ECO:0000269|PubMed:17145605}.
/FTId=VAR_030510.
VARIANT 142 142 L -> P (in Pelendri; dbSNP:rs33956485).
{ECO:0000269|PubMed:1742490}.
/FTId=VAR_003121.
VARIANT 143 143 A -> D (in Fitzroy; dbSNP:rs35848600).
{ECO:0000269|PubMed:6548205}.
/FTId=VAR_003122.
VARIANT 147 147 H -> R (in Monreale; dbSNP:rs34149886).
{ECO:0000269|PubMed:11939506}.
/FTId=VAR_014278.
HELIX 6 16 {ECO:0000244|PDB:1SHR}.
TURN 21 23 {ECO:0000244|PDB:1SHR}.
HELIX 24 35 {ECO:0000244|PDB:1SHR}.
HELIX 37 46 {ECO:0000244|PDB:1SHR}.
HELIX 52 56 {ECO:0000244|PDB:1SHR}.
HELIX 59 77 {ECO:0000244|PDB:1SHR}.
TURN 78 80 {ECO:0000244|PDB:1SHR}.
HELIX 82 85 {ECO:0000244|PDB:1SHR}.
HELIX 87 94 {ECO:0000244|PDB:1SHR}.
HELIX 102 119 {ECO:0000244|PDB:1SHR}.
HELIX 120 122 {ECO:0000244|PDB:1SHR}.
HELIX 125 142 {ECO:0000244|PDB:1SHR}.
HELIX 144 146 {ECO:0000244|PDB:1SHR}.
SEQUENCE 147 AA; 16055 MW; F86BA4A09A57BB05 CRC64;
MVHLTPEEKT AVNALWGKVN VDAVGGEALG RLLVVYPWTQ RFFESFGDLS SPDAVMGNPK
VKAHGKKVLG AFSDGLAHLD NLKGTFSQLS ELHCDKLHVD PENFRLLGNV LVCVLARNFG
KEFTPQMQAA YQKVVAGVAN ALAHKYH


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