HBG2_HUMAN
ID HBG2_HUMAN Reviewed; 147 AA.
AC P69892; A8MZE0; P02096; P62027; Q14491; Q68NH9; Q96FH6; Q96FH7;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Hemoglobin subunit gamma-2;
DE AltName: Full=Gamma-2-globin;
DE AltName: Full=Hb F Ggamma;
DE AltName: Full=Hemoglobin gamma-2 chain;
DE AltName: Full=Hemoglobin gamma-G chain;
GN Name=HBG2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=7438203; DOI=10.1016/0092-8674(80)90426-2;
RA Slightom J.L., Blechl A.E., Smithies O.;
RT "Human fetal G gamma- and A gamma-globin genes: complete nucleotide
RT sequences suggest that DNA can be exchanged between these duplicated
RT genes.";
RL Cell 21:627-638(1980).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=7250702; DOI=10.1016/0378-1119(80)90103-1;
RA Cavallesco C., Forget B.G., Deriel J.K., Wilson L.B., Wilson J.T.,
RA Weissman S.M.;
RT "Nucleotide sequence of human G gamma globin messenger RNA.";
RL Gene 12:215-221(1980).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT M-CIRCLEVILLE LEU-64.
RA Kutlar F., Shell R.D., Elam D., Holley L., Nechtman J., Kutlar A.;
RT "A new G-gamma globin chain variant (His63Leu), hemoglobin M-Circleville
RT found in a Caucasian family.";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Bone marrow, Lung, and Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PROTEIN SEQUENCE OF 2-147.
RX PubMed=14087393; DOI=10.1021/bi00905a016;
RA Schroeder W.A., Shelton J.R., Shelton J.B., Cormick J., Jones R.T.;
RT "The amino acid sequence of the gamma chain of human fetal hemoglobin.";
RL Biochemistry 2:992-1008(1963).
RN [7]
RP PROTEIN SEQUENCE OF 2-60; 67-77 AND 84-147, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RC TISSUE=Brain, Cajal-Retzius cell, and Fetal brain cortex;
RA Lubec G., Afjehi-Sadat L., Chen W.-Q., Sun Y.;
RL Submitted (DEC-2008) to UniProtKB.
RN [8]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 122-147.
RX PubMed=2581851; DOI=10.1016/0378-1119(85)90093-9;
RA Lang K.M., Spritz R.A.;
RT "Cloning specific complete polyadenylylated 3'-terminal cDNA segments.";
RL Gene 33:191-196(1985).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-45; SER-51; SER-53; SER-140;
RP SER-143 AND SER-144, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [11]
RP X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 2-147 IN COMPLEX WITH HEME AND
RP ALPHA CHAIN, AND SUBUNIT.
RX PubMed=881729; DOI=10.1016/s0022-2836(77)80158-7;
RA Frier J.A., Perutz M.F.;
RT "Structure of human foetal deoxyhaemoglobin.";
RL J. Mol. Biol. 112:97-112(1977).
RN [12]
RP ACETYLATION AT GLY-2.
RX PubMed=5554303; DOI=10.1016/s0021-9258(18)62282-3;
RA Stegink L.D., Meyer P.D., Brummel M.C.;
RT "Human fetal hemoglobin F 1. Acetylation status.";
RL J. Biol. Chem. 246:3001-3007(1971).
RN [13]
RP VARIANT MALTA-1 ARG-118.
RX PubMed=5792729; DOI=10.1038/223311a0;
RA Cauchi M.N., Clegg J.B., Weatherall D.J.;
RT "Haemoglobin F(Malta): a new foetal haemoglobin variant with a high
RT incidence in Maltese infants.";
RL Nature 223:311-313(1969).
RN [14]
RP VARIANT AUCKLAND ASN-8.
RX PubMed=4429671; DOI=10.1016/0005-2795(74)90004-x;
RA Carrell R.W., Owen M.C., Anderson R., Berry E.;
RT "Haemoglobin F Auckland G gamma 7 Asp leads to Asn: further evidence for
RT multiple genes for the gamma chain.";
RL Biochim. Biophys. Acta 365:323-327(1974).
RN [15]
RP VARIANT PORT-ROYAL ALA-126.
RX PubMed=4846278; DOI=10.1111/j.1365-2141.1974.tb06798.x;
RA Brimhall B., Vedvick T.S., Jones R.T., Ahern E., Palomino E., Ahern V.;
RT "Haemoglobin F Port Royal (alpha2G gamma2 125 Glu leads to Ala).";
RL Br. J. Haematol. 27:313-318(1974).
RN [16]
RP VARIANT MALAYSIA CYS-2.
RX PubMed=4837284; DOI=10.1136/jmg.11.1.25;
RA Lie-Injo L.E., Kamuzora H., Lehmann H.;
RT "Haemoglobin F Malaysia: alpha 2, gamma 2 1(NA1) glycine-->cysteine; 136
RT glycine.";
RL J. Med. Genet. 11:25-30(1974).
RN [17]
RP VARIANT POOLE GLY-131.
RX PubMed=1127124; DOI=10.1136/jcp.28.4.317;
RA Lee-Potter J.P., Deacon-Smith R.A., Simpkiss M.J., Kamuzora H., Lehmann H.;
RT "A new cause of haemolytic anaemia in the newborn. A description of an
RT unstable fetal haemoglobin: F Poole, alpha2-G-gamma2 130 tryptophan yields
RT glycine.";
RL J. Clin. Pathol. 28:317-320(1975).
RN [18]
RP VARIANTS MELBOURNE ARG-17 AND CARLTON LYS-122.
RX PubMed=836882; DOI=10.1016/0005-2795(77)90020-4;
RA Brennan S.O., Smith M.B., Carrell R.W.;
RT "Haemoglobin F Melbourne Ggamma 16 Gly leads to Arg and haemoglobin F
RT carlton Ggamma 121 Glu leads to Lys. Further evidence for varied activity
RT of gamma-chain genes.";
RL Biochim. Biophys. Acta 490:452-455(1977).
RN [19]
RP VARIANT MEINOHAMA GLY-6.
RX PubMed=6172403; DOI=10.3109/03630268108991687;
RA Ohta Y., Saito S., Fujita S., Wilson J.B., Lam H., Huisman T.H.J.;
RT "Hb F-Meinohama or alpha 2 gamma 2 (5 Glu replaced by Gly; 75 Ile; 136
RT Gly).";
RL Hemoglobin 5:565-570(1981).
RN [20]
RP VARIANT LODZ ARG-45.
RX PubMed=6814491; DOI=10.1016/0167-4838(82)90353-3;
RA Honig G.R., Koshy M., Schroeder W.A., Shelton J.B., Shelton J.R.;
RT "Hemoglobin F Lodz (G gamma I 44 Ser replaced by Arg). A newly identified
RT variant from an American infant of Polish descent.";
RL Biochim. Biophys. Acta 707:213-216(1982).
RN [21]
RP VARIANT KINGSTON ARG-56.
RX PubMed=6186522; DOI=10.1016/0014-5793(82)81307-0;
RA Serjeant G.R., Serjeant B.E., Lehmann H., Dukes M., Robb L.;
RT "Hb F Kingston (G gamma 55 [D6] Met leads to Arg).";
RL FEBS Lett. 150:77-80(1982).
RN [22]
RP VARIANT CALTECH GLN-121.
RX PubMed=6186635; DOI=10.3109/03630268209046451;
RA Shelton J.B., Shelton J.R., Espinueva Z., Huynh V., Schroeder W.A.,
RA Powars D.;
RT "Hemoglobin F-Caltech: alpha 2 G gamma 2 120Lys replaced by Gln.";
RL Hemoglobin 6:577-592(1982).
RN [23]
RP VARIANT COLUMBUS-GA ASN-95.
RX PubMed=6186636; DOI=10.3109/03630268209046452;
RA Nakatsuji T., Lam H., Wilson J.B., Webber B.B., Huisman T.H.J.;
RT "Hb F-Columbus-Ga or alpha 2 G gamma 2 94(FGl) Asp replaced by Asn.";
RL Hemoglobin 6:593-598(1982).
RN [24]
RP VARIANT KENNESTONE ARG-78.
RX PubMed=6192110; DOI=10.3109/03630268309048656;
RA Nakatsuji T., Lam H., Huisman T.H.J.;
RT "Hb F-Kennestone or alpha 2G gamma 2 (EF1)77 His leads to Arg observed in a
RT Caucasian baby.";
RL Hemoglobin 7:267-270(1983).
RN [25]
RP VARIANT LA GRANGE LYS-102.
RX PubMed=6206897; DOI=10.1016/0167-4838(84)90208-5;
RA Nakatsuji T., Shimizu K., Huisman T.H.J.;
RT "Hb F-La Grange or alpha 2 gamma 2 101(G3)Glu-->Lys; 75Ile; 136Gly: a high
RT oxygen affinity fetal hemoglobin variant observed in a Caucasian newborn.";
RL Biochim. Biophys. Acta 789:224-228(1984).
RN [26]
RP VARIANT SHANGHAI ARG-67.
RX PubMed=2579547; DOI=10.1002/ajh.2830180303;
RA Zeng Y.T., Huang S.Z., Nakatsuji T., Huisman T.H.J.;
RT "-G gamma A gamma-thalassemia and gamma-chain variants in Chinese newborn
RT babies.";
RL Am. J. Hematol. 18:235-242(1985).
RN [27]
RP VARIANT TOKYO ILE-35.
RX PubMed=2581919; DOI=10.3109/03630268508996979;
RA Chen S.S., Wilson J.B., Webber B.B., Huisman T.H.J., Miwa S., Amenomori Y.;
RT "Hb F-Tokyo or alpha 2G gamma 2 34(B16)Val-->Ile, a silent gamma chain
RT variant detected by reverse phase high performance liquid chromatography.";
RL Hemoglobin 9:25-32(1985).
RN [28]
RP VARIANT URUMQI GLY-23.
RX PubMed=2420748; DOI=10.3109/03630268609072467;
RA Hu H.Y., Ma M.S.;
RT "Hb F-Urumqi G gamma I22(B4)Asp-->Gly: a new fetal hemoglobin variant found
RT in a Uygur baby.";
RL Hemoglobin 10:15-20(1986).
RN [29]
RP VARIANTS ALBAICIN GLU-9 AND GLN-9.
RX PubMed=2435680; DOI=10.3109/03630268609036569;
RA de Pablos J.M., Wilson J.B., Kutlar A., Chen S.S., Huisman T.H.J.;
RT "Hb F-Albaicin or G gamma 8(A5)Lys-->Glu or Gln.";
RL Hemoglobin 10:655-659(1986).
RN [30]
RP VARIANTS FUCHU GLN-22 AND MINOO ARG-73.
RX PubMed=3120456; DOI=10.1159/000205857;
RA Hayashi A., Wada Y., Matsuo T., Katakuse I., Matsuda H.;
RT "Neonatal screening and mass-spectrometric analysis of hemoglobin variants
RT in Japan.";
RL Acta Haematol. 78:114-118(1987).
RN [31]
RP VARIANT OAKLAND LYS-27.
RX PubMed=2442122; DOI=10.3109/03630268709005796;
RA Kleman K., Lubin B., Wilson J.B., Kutlar A., Webber B.B., Huisman T.H.J.;
RT "Hb F-Oakland or alpha 2G gamma I2(26)(B8)Glu-->Lys.";
RL Hemoglobin 11:181-183(1987).
RN [32]
RP VARIANT CLARKE ASN-66.
RX PubMed=2442123; DOI=10.3109/03630268709005797;
RA Kutlar A., Kutlar F., Wilson J.B., Webber B.B., Gonzalez Redondo J.M.,
RA Huisman T.H.J.;
RT "Hb F-Clarke or alpha 2G gamma 2(65)(E9)Lys-->Asn.";
RL Hemoglobin 11:185-188(1987).
RN [33]
RP VARIANT GRANADA VAL-23.
RX PubMed=2459082; DOI=10.3109/03630268808998041;
RA de Pablos J.M., Clegg J.B.;
RT "Hb F-Granada or alpha 2G gamma (2)22(B4)Asp-->Val: a new human fetal
RT hemoglobin variant.";
RL Hemoglobin 12:405-407(1988).
RN [34]
RP VARIANT AUSTELL LYS-41.
RX PubMed=2459083; DOI=10.3109/03630268808998042;
RA Kutlar A., Kutlar F., Wilson J.B., Webber B.B., Hu H., Huisman T.H.J.;
RT "Hb F-Austell or alpha 2G gamma (2)40(C6)Arg-->Lys.";
RL Hemoglobin 12:409-411(1988).
RN [35]
RP VARIANT TNCY TYR-64.
RX PubMed=2483933; DOI=10.3109/03630268908998852;
RA Glader B.E., Zwerdling D., Kutlar F., Kutlar A., Wilson J.B.,
RA Huisman T.H.J.;
RT "Hb F-M-Osaka or alpha 2G gamma 2(63)(E7)His-->Tyr in a Caucasian male
RT infant.";
RL Hemoglobin 13:769-773(1989).
RN [36]
RP VARIANT TNCY TYR-93.
RX PubMed=2470017;
RA Priest J.R., Watterson J., Jones R.T., Faassen A.E., Hedlund B.E.;
RT "Mutant fetal hemoglobin causing cyanosis in a newborn.";
RL Pediatrics 83:734-736(1989).
RN [37]
RP VARIANT BROOKLYN GLN-67.
RX PubMed=1703138; DOI=10.3109/03630269009046963;
RA Plaseska D., Li H.-J., Wilson J.B., Kutlar F., Kutlar A., Huisman T.H.J.,
RA Kulpa J.;
RT "Hb F-Brooklyn or alpha 2G gamma 2(66)(E10)Lys-->Gln.";
RL Hemoglobin 14:213-216(1990).
RN [38]
RP VARIANT ONODA TYR-147.
RX PubMed=1703139; DOI=10.3109/03630269009046964;
RA Harano T., Harano K., Doi K., Ueda S., Imai K., Ohba Y., Kutlar F.,
RA Huisman T.H.J.;
RT "Hb F-Onoda or alpha 2G gamma 2(146)(HC3)His-->Tyr, a newly discovered
RT fetal hemoglobin variant in a Japanese newborn.";
RL Hemoglobin 14:217-222(1990).
RN [39]
RP VARIANT CATALONIA ARG-16.
RX PubMed=1706691; DOI=10.3109/03630269009005804;
RA Plaseska D., Wilson J.B., Kutlar F., Font L., Baiget M., Huisman T.H.J.;
RT "Hb F-Catalonia or alpha 2G gamma(2)15(A12)Trp-->Arg.";
RL Hemoglobin 14:511-516(1990).
RN [40]
RP VARIANT CHARLOTTE THR-76.
RX PubMed=1714434; DOI=10.3109/03630269009046970;
RA Plaseska D., Kutlar F., Wilson J.B., Fei Y.J., Huisman T.H.J.;
RT "Hb F-Charlotte, an A gamma variant with a threonine residue in position
RT gamma 75 and a glycine residue in position gamma 136.";
RL Hemoglobin 14:617-625(1990).
RN [41]
RP VARIANT COSENZA GLU-26.
RX PubMed=1726095; DOI=10.3109/03630269109027898;
RA Qualtieri A., Crescibene L., Bagala A., de Marco E.V., Bria M.,
RA Brancati C.;
RT "Hb F-Cosenza or G gamma 25(B7)Gly-->Glu: a new fast-moving fetal
RT hemoglobin variant.";
RL Hemoglobin 15:509-515(1991).
RN [42]
RP VARIANT SASKATOON LYS-22.
RX PubMed=8144355; DOI=10.3109/03630269309043495;
RA Pobedimskaya D.D., Molchanova T.P., Huisman T.H.J., Harding S.R.,
RA Bakanec R.;
RT "Hb F-Saskatoon or alpha 2G gamma (2)21(B3)Glu-->Lys observed in a North
RT American indian newborn.";
RL Hemoglobin 17:547-549(1993).
RN [43]
RP VARIANT MACEDONIA-II ASN-105.
RX PubMed=7713741; DOI=10.3109/03630269409045769;
RA Plaseska D., Panovska-Popovska S., Lazarevski M., Efremov G.D.;
RT "Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant.";
RL Hemoglobin 18:373-382(1994).
RN [44]
RP VARIANT TNCY SER-42.
RX PubMed=7741137; DOI=10.1002/ajh.2830490108;
RA Kohli-Kumar M., Zwerdling T., Rucknagel D.L.;
RT "Hemoglobin F-Cincinnati, alpha 2G gamma 2 41(C7) Phe-->Ser in a newborn
RT with cyanosis.";
RL Am. J. Hematol. 49:43-47(1995).
RN [45]
RP VARIANTS EMIRATES GLU-60 AND SACROMONTE GLN-60.
RX PubMed=7558873; DOI=10.3109/03630269509036937;
RA Abbes S., Fitzgerald P.A., Varady E., Girot R., Pic P., Blouquit Y.,
RA Ducrocq R., Drupt F., Wajcman H.;
RT "Two fetal hemoglobin variants affecting the same residue: Hb F-Emirates [G
RT gamma 59(E3)Lys-->Glu] and Hb F-Sacromonte [G gamma 59(E3)Lys-->Gln].";
RL Hemoglobin 19:173-182(1995).
RN [46]
RP VARIANT VELETA GLY-23.
RX PubMed=8718700;
RA de Pablos Gallego J.M., Gu L.H., Leonova J.Y., Huisman T.H.J.;
RT "Hb F-Veleta or alpha 2 G gamma(2)40(C6)Arg-->Gly.";
RL Hemoglobin 19:407-411(1995).
RN [47]
RP VARIANT WAYNESBORO THR-76.
RX PubMed=8718701; DOI=10.3109/03630269509005834;
RA Gu L.H., Oner C., Huisman T.H.J.;
RT "The G gamma T chain (G gamma 75 Thr; 136 Gly) in Hb F-Charlotte is the
RT product of an A gamma gene with a limited gene conversion and that in Hb F-
RT Waynesboro of a mutated G gamma gene.";
RL Hemoglobin 19:413-418(1995).
RN [48]
RP VARIANT LESVOS THR-76.
RX PubMed=8566966; DOI=10.1007/bf02265278;
RA Papadakis M.N., Patrinos G.P., Drakoulakou O., Loutradi-Anagnostou A.;
RT "HbF-Lesvos: an HbF variant due to a novel G gamma mutation (G gamma 75
RT ATA-->ACA) detected in a Greek family.";
RL Hum. Genet. 97:260-262(1996).
RN [49]
RP VARIANT CALABRIA LEU-119.
RX PubMed=10722114; DOI=10.3109/03630260009002272;
RA Manca L., Cherchi L., De Rosa M.C., Giardina B., Masala B.;
RT "A new, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria
RT Ggamma118(GH1)Phe-->Leu.";
RL Hemoglobin 24:37-44(2000).
RN [50]
RP VARIANTS CLAMART ASN-18 AND OULED RABAH LYS-20.
RX PubMed=10722115; DOI=10.3109/03630260009002273;
RA Wajcman H., Borensztajn K., Riou J., Prome D., Hurtrel D., Bardakdjian J.,
RA Lena-Russo D., Amouroux I., Ducrocq R.;
RT "Two new Ggamma chain variants: Hb F-Clamart [gamma17(A14)Lys-->Asn] and Hb
RT F-Ouled Rabah [gamma19(B1)Asn-->Lys].";
RL Hemoglobin 24:45-52(2000).
RN [51]
RP VARIANT COIGNERES VAL-76.
RX PubMed=11791877; DOI=10.1081/hem-100107881;
RA Wajcman H., Yapo A.P., Riou J., Prome D., Richelme-David S., Hurtrel D.,
RA Bardakdjian-Michau J.;
RT "A new Ggamma chain variant: Hb F-Coignieres [gamma75(E19)Ile-->Val].";
RL Hemoglobin 25:425-428(2001).
RN [52]
RP VARIANT BONHEIDEN PRO-39.
RX PubMed=15645283; DOI=10.1007/s00431-004-1614-7;
RA Van den Driessche M., Moerman J., Moens M., Van Eldere S., Derclaye I.,
RA Philippe M.;
RT "Severe hereditary haemolytic anaemia in a Caucasian newborn: a new fetal
RT haemoglobin variant Hb F-Bonheiden ((G)gamma 38(C4) Thr-->Pro).";
RL Eur. J. Pediatr. 164:261-262(2005).
RN [53]
RP VARIANT BRON ALA-21.
RX PubMed=16370494; DOI=10.1080/03630260500312725;
RA Lacan P., Burnichon N., Becchi M., Zanella-Cleon I., Aubry M., Couprie N.,
RA Francina A.;
RT "A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)Val-->Ala].";
RL Hemoglobin 29:301-305(2005).
RN [54]
RP FUNCTION, VARIANT TNCY LEU-64, AND CHARACTERIZATION OF VARIANT TNCY TYR-64.
RX PubMed=19065339; DOI=10.1080/03630260802507915;
RA Dainer E., Shell R., Miller R., Atkin J.F., Pastore M., Kutlar A.,
RA Zhuang L., Holley L., Davis D.H., Kutlar F.;
RT "Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville
RT [Ggamma63(E7)His-->Leu, CAT>CTT].";
RL Hemoglobin 32:596-600(2008).
RN [55]
RP FUNCTION, VARIANT TNCY MET-68, AND CHARACTERIZATION OF VARIANT TNCY MET-68.
RX PubMed=21561349; DOI=10.1056/nejmoa1013579;
RA Crowley M.A., Mollan T.L., Abdulmalik O.Y., Butler A.D., Goodwin E.F.,
RA Sarkar A., Stolle C.A., Gow A.J., Olson J.S., Weiss M.J.;
RT "A hemoglobin variant associated with neonatal cyanosis and anemia.";
RL N. Engl. J. Med. 364:1837-1843(2011).
RN [56]
RP FUNCTION, VARIANT TNCY HIS-106, AND CHARACTERIZATION OF VARIANT TNCY
RP HIS-106.
RX PubMed=24502349; DOI=10.3109/03630269.2013.870079;
RA Saller E., Kohne E., Dutly F., Frischknecht H.;
RT "A new (G)gamma-globin variant causing low oxygen affinity: Hb F-
RT Brugine/Feldkirch [(G)gamma105(G7)Leu?His; HBG2: c.317T>A].";
RL Hemoglobin 38:84-87(2014).
CC -!- FUNCTION: Gamma chains make up the fetal hemoglobin F, in combination
CC with alpha chains. {ECO:0000269|PubMed:19065339,
CC ECO:0000269|PubMed:21561349, ECO:0000269|PubMed:24502349}.
CC -!- SUBUNIT: Heterotetramer of two alpha chains and two gamma chains in
CC fetal hemoglobin (Hb F). {ECO:0000269|PubMed:881729}.
CC -!- INTERACTION:
CC P69892; P69905: HBA2; NbExp=3; IntAct=EBI-3910089, EBI-714680;
CC P69892; Q6B0K9: HBM; NbExp=6; IntAct=EBI-3910089, EBI-12805802;
CC P69892; P09105: HBQ1; NbExp=3; IntAct=EBI-3910089, EBI-10193656;
CC P69892; Q9NQW7-3: XPNPEP1; NbExp=3; IntAct=EBI-3910089, EBI-12079490;
CC -!- TISSUE SPECIFICITY: Red blood cells.
CC -!- DEVELOPMENTAL STAGE: Expressed until four or five weeks after birth.
CC -!- PTM: Acetylation of Gly-2 converts Hb F to the minor Hb F1.
CC {ECO:0000269|PubMed:5554303}.
CC -!- DISEASE: Cyanosis transient neonatal (TNCY) [MIM:613977]: A disorder
CC characterized by cyanosis in the fetus and neonate, due to a defect in
CC the fetal hemoglobin chain which has reduced affinity for oxygen. Some
CC patients develop anemia resulting from increased destruction of red
CC cells containing abnormal or unstable hemoglobin. The cyanosis resolves
CC spontaneously by 5 to 6 months of age or earlier, as the adult beta-
CC globin chain is produced and replaces the fetal gamma-globin chain.
CC {ECO:0000269|PubMed:19065339, ECO:0000269|PubMed:21561349,
CC ECO:0000269|PubMed:24502349, ECO:0000269|PubMed:2470017,
CC ECO:0000269|PubMed:2483933, ECO:0000269|PubMed:7741137}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the globin family. {ECO:0000255|PROSITE-
CC ProRule:PRU00238}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB50159.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=HbVar; Note=Human hemoglobin variants and
CC thalassemias;
CC URL="https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBG2";
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DR EMBL; M91036; AAB59428.1; -; Genomic_DNA.
DR EMBL; M91037; AAA58492.1; -; Genomic_DNA.
DR EMBL; U01317; AAA16331.1; -; Genomic_DNA.
DR EMBL; V00515; CAA23773.1; -; Genomic_DNA.
DR EMBL; M15386; AAB50159.1; ALT_INIT; mRNA.
DR EMBL; AY662983; AAT98611.1; -; Genomic_DNA.
DR EMBL; AK290492; BAF83181.1; -; mRNA.
DR EMBL; BC010914; AAH10914.1; -; mRNA.
DR EMBL; BC029387; AAH29387.1; -; mRNA.
DR EMBL; BC130457; AAI30458.1; -; mRNA.
DR EMBL; BC130459; AAI30460.1; -; mRNA.
DR EMBL; M11427; AAA35957.1; -; mRNA.
DR CCDS; CCDS7755.1; -.
DR PIR; A90803; HGHUA.
DR RefSeq; NP_000175.1; NM_000184.2.
DR PDB; 1FDH; X-ray; 2.50 A; G/H=2-147.
DR PDB; 4MQJ; X-ray; 1.80 A; B/D/F/H=3-147.
DR PDB; 4MQK; X-ray; 2.24 A; B/D/F/H=2-147.
DR PDBsum; 1FDH; -.
DR PDBsum; 4MQJ; -.
DR PDBsum; 4MQK; -.
DR AlphaFoldDB; P69892; -.
DR SASBDB; P69892; -.
DR SMR; P69892; -.
DR BioGRID; 109298; 23.
DR ComplexPortal; CPX-2931; Hemoglobin Portland-1 Variant 2 complex.
DR ComplexPortal; CPX-2933; Hemoglobin HbF Variant 2 complex.
DR CORUM; P69892; -.
DR IntAct; P69892; 12.
DR MINT; P69892; -.
DR STRING; 9606.ENSP00000369609; -.
DR iPTMnet; P69892; -.
DR PhosphoSitePlus; P69892; -.
DR BioMuta; HBG2; -.
DR DMDM; 56749861; -.
DR EPD; P69892; -.
DR jPOST; P69892; -.
DR MassIVE; P69892; -.
DR MaxQB; P69892; -.
DR PaxDb; P69892; -.
DR PeptideAtlas; P69892; -.
DR PRIDE; P69892; -.
DR ProteomicsDB; 57546; -.
DR Antibodypedia; 4250; 110 antibodies from 21 providers.
DR DNASU; 3048; -.
DR Ensembl; ENST00000336906.6; ENSP00000338082.4; ENSG00000196565.15.
DR GeneID; 3048; -.
DR KEGG; hsa:3048; -.
DR MANE-Select; ENST00000336906.6; ENSP00000338082.4; NM_000184.3; NP_000175.1.
DR UCSC; uc001maj.2; human.
DR CTD; 3048; -.
DR DisGeNET; 3048; -.
DR GeneCards; HBG2; -.
DR HGNC; HGNC:4832; HBG2.
DR HPA; ENSG00000196565; Tissue enriched (placenta).
DR MalaCards; HBG2; -.
DR MIM; 142250; gene.
DR MIM; 613977; phenotype.
DR neXtProt; NX_P69892; -.
DR OpenTargets; ENSG00000196565; -.
DR Orphanet; 280615; Hemoglobinopathy Toms River.
DR Orphanet; 46532; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome.
DR Orphanet; 251380; Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome.
DR PharmGKB; PA29207; -.
DR VEuPathDB; HostDB:ENSG00000196565; -.
DR eggNOG; KOG3378; Eukaryota.
DR GeneTree; ENSGT00940000162659; -.
DR HOGENOM; CLU_003827_10_0_1; -.
DR InParanoid; P69892; -.
DR OMA; WRKVNVE; -.
DR OrthoDB; 1370439at2759; -.
DR PhylomeDB; P69892; -.
DR TreeFam; TF333268; -.
DR PathwayCommons; P69892; -.
DR Reactome; R-HSA-983231; Factors involved in megakaryocyte development and platelet production.
DR SignaLink; P69892; -.
DR SIGNOR; P69892; -.
DR BioGRID-ORCS; 3048; 9 hits in 995 CRISPR screens.
DR ChiTaRS; HBG2; human.
DR EvolutionaryTrace; P69892; -.
DR GeneWiki; HBG2; -.
DR GenomeRNAi; 3048; -.
DR Pharos; P69892; Tbio.
DR PRO; PR:P69892; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; P69892; protein.
DR Bgee; ENSG00000196565; Expressed in placenta and 92 other tissues.
DR ExpressionAtlas; P69892; baseline and differential.
DR Genevisible; P69892; HS.
DR GO; GO:0072562; C:blood microparticle; HDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0031838; C:haptoglobin-hemoglobin complex; IBA:GO_Central.
DR GO; GO:0005833; C:hemoglobin complex; IPI:ComplexPortal.
DR GO; GO:0020037; F:heme binding; IBA:GO_Central.
DR GO; GO:0031721; F:hemoglobin alpha binding; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0043177; F:organic acid binding; IBA:GO_Central.
DR GO; GO:0019825; F:oxygen binding; IBA:GO_Central.
DR GO; GO:0005344; F:oxygen carrier activity; IBA:GO_Central.
DR GO; GO:0015670; P:carbon dioxide transport; IC:ComplexPortal.
DR GO; GO:0098869; P:cellular oxidant detoxification; IEA:GOC.
DR GO; GO:0042744; P:hydrogen peroxide catabolic process; IBA:GO_Central.
DR GO; GO:0015671; P:oxygen transport; IDA:ComplexPortal.
DR GO; GO:0010942; P:positive regulation of cell death; IC:ComplexPortal.
DR CDD; cd08925; Hb-beta-like; 1.
DR Gene3D; 1.10.490.10; -; 1.
DR InterPro; IPR000971; Globin.
DR InterPro; IPR009050; Globin-like_sf.
DR InterPro; IPR012292; Globin/Proto.
DR InterPro; IPR002337; Hemoglobin_b.
DR Pfam; PF00042; Globin; 1.
DR PRINTS; PR00814; BETAHAEM.
DR SUPFAM; SSF46458; SSF46458; 1.
DR PROSITE; PS01033; GLOBIN; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Direct protein sequencing; Disease variant;
KW Heme; Iron; Metal-binding; Oxygen transport; Phosphoprotein;
KW Reference proteome; S-nitrosylation; Transport.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|PubMed:14087393,
FT ECO:0000269|PubMed:5554303, ECO:0000269|Ref.7"
FT CHAIN 2..147
FT /note="Hemoglobin subunit gamma-2"
FT /id="PRO_0000053254"
FT BINDING 64
FT /ligand="heme b"
FT /ligand_id="ChEBI:CHEBI:60344"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="distal binding residue"
FT /evidence="ECO:0000250|UniProtKB:P80044"
FT BINDING 93
FT /ligand="heme b"
FT /ligand_id="ChEBI:CHEBI:60344"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="proximal binding residue"
FT /evidence="ECO:0000269|PubMed:881729, ECO:0007744|PDB:1FDH,
FT ECO:0007744|PDB:4MQJ, ECO:0007744|PDB:4MQK"
FT MOD_RES 2
FT /note="N-acetylglycine; in form Hb F1"
FT /evidence="ECO:0000269|PubMed:5554303"
FT MOD_RES 13
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P68871"
FT MOD_RES 45
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 51
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 53
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 60
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:P68871"
FT MOD_RES 83
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:P68871"
FT MOD_RES 94
FT /note="S-nitrosocysteine"
FT /evidence="ECO:0000250|UniProtKB:P68871"
FT MOD_RES 140
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 143
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 144
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 2
FT /note="G -> C (in Malaysia; dbSNP:rs36006195)"
FT /evidence="ECO:0000269|PubMed:4837284"
FT /id="VAR_003123"
FT VARIANT 6
FT /note="E -> G (in Meinohama; dbSNP:rs34263826)"
FT /evidence="ECO:0000269|PubMed:6172403"
FT /id="VAR_003126"
FT VARIANT 8
FT /note="D -> N (in Auckland; dbSNP:rs34501593)"
FT /evidence="ECO:0000269|PubMed:4429671"
FT /id="VAR_003129"
FT VARIANT 9
FT /note="K -> E (in Albaicin; dbSNP:rs35521813)"
FT /evidence="ECO:0000269|PubMed:2435680"
FT /id="VAR_020643"
FT VARIANT 9
FT /note="K -> Q (in Albaicin; dbSNP:rs35521813)"
FT /evidence="ECO:0000269|PubMed:2435680"
FT /id="VAR_020644"
FT VARIANT 13
FT /note="T -> R (in Heather; dbSNP:rs281864890)"
FT /id="VAR_020645"
FT VARIANT 16
FT /note="W -> R (in Catalonia; dbSNP:rs34438981)"
FT /evidence="ECO:0000269|PubMed:1706691"
FT /id="VAR_003131"
FT VARIANT 17
FT /note="G -> R (in Melbourne; dbSNP:rs34907654)"
FT /evidence="ECO:0000269|PubMed:836882"
FT /id="VAR_003132"
FT VARIANT 18
FT /note="K -> N (in Clamart; dbSNP:rs35621390)"
FT /evidence="ECO:0000269|PubMed:10722115"
FT /id="VAR_020646"
FT VARIANT 20
FT /note="N -> K (in Ouled Rabah; dbSNP:rs34018799)"
FT /evidence="ECO:0000269|PubMed:10722115"
FT /id="VAR_020647"
FT VARIANT 21
FT /note="V -> A (in Bron; dbSNP:rs63751196)"
FT /evidence="ECO:0000269|PubMed:16370494"
FT /id="VAR_030496"
FT VARIANT 22
FT /note="E -> K (in Saskatoon; dbSNP:rs33955330)"
FT /evidence="ECO:0000269|PubMed:8144355"
FT /id="VAR_003133"
FT VARIANT 22
FT /note="E -> Q (in Fuchu; dbSNP:rs33955330)"
FT /evidence="ECO:0000269|PubMed:3120456"
FT /id="VAR_003134"
FT VARIANT 23
FT /note="D -> G (in Urumqi; dbSNP:rs281864891)"
FT /evidence="ECO:0000269|PubMed:2420748,
FT ECO:0000269|PubMed:8718700"
FT /id="VAR_020648"
FT VARIANT 23
FT /note="D -> V (in Granada; dbSNP:rs281864891)"
FT /evidence="ECO:0000269|PubMed:2459082"
FT /id="VAR_003136"
FT VARIANT 26
FT /note="G -> E (in Cosenza; dbSNP:rs35687396)"
FT /evidence="ECO:0000269|PubMed:1726095"
FT /id="VAR_003137"
FT VARIANT 27
FT /note="E -> K (in Oakland; dbSNP:rs35654328)"
FT /evidence="ECO:0000269|PubMed:2442122"
FT /id="VAR_003139"
FT VARIANT 35
FT /note="V -> I (in Tokyo; dbSNP:rs35885783)"
FT /evidence="ECO:0000269|PubMed:2581919"
FT /id="VAR_003140"
FT VARIANT 39
FT /note="T -> P (in Bonheiden; causes severe hereditary
FT hemolytic anemia; dbSNP:rs35799058)"
FT /evidence="ECO:0000269|PubMed:15645283"
FT /id="VAR_030497"
FT VARIANT 41
FT /note="R -> G (in Veleta; dbSNP:rs34532478)"
FT /id="VAR_003144"
FT VARIANT 41
FT /note="R -> K (in Austell; dbSNP:rs281864892)"
FT /evidence="ECO:0000269|PubMed:2459083"
FT /id="VAR_020649"
FT VARIANT 42
FT /note="F -> S (in TNCY; hemoglobin Cincinnati;
FT dbSNP:rs34878913)"
FT /evidence="ECO:0000269|PubMed:7741137"
FT /id="VAR_003146"
FT VARIANT 45
FT /note="S -> R (in Lodz; dbSNP:rs34017450)"
FT /evidence="ECO:0000269|PubMed:6814491"
FT /id="VAR_003148"
FT VARIANT 56
FT /note="M -> R (in Kingston; dbSNP:rs34915311)"
FT /evidence="ECO:0000269|PubMed:6186522"
FT /id="VAR_003150"
FT VARIANT 60
FT /note="K -> E (in Emirates; dbSNP:rs28933078)"
FT /evidence="ECO:0000269|PubMed:7558873"
FT /id="VAR_003151"
FT VARIANT 60
FT /note="K -> Q (in Sacromonte; dbSNP:rs28933078)"
FT /evidence="ECO:0000269|PubMed:7558873"
FT /id="VAR_003152"
FT VARIANT 64
FT /note="H -> L (in TNCY; hemoglobin M-Circleville)"
FT /evidence="ECO:0000269|PubMed:19065339, ECO:0000269|Ref.3"
FT /id="VAR_025336"
FT VARIANT 64
FT /note="H -> Y (in TNCY; hemoglobin Osaka; the presence of a
FT tyrosine causes the formation of a covalent link with heme
FT iron, so that the iron is stabilized in the ferric form;
FT when this occurs methemoglobin is formed, oxygen can no
FT longer bind to heme and cyanosis occurs; dbSNP:rs34474104)"
FT /evidence="ECO:0000269|PubMed:19065339,
FT ECO:0000269|PubMed:2483933"
FT /id="VAR_003154"
FT VARIANT 66
FT /note="K -> N (in Clarke; dbSNP:rs34019507)"
FT /evidence="ECO:0000269|PubMed:2442123"
FT /id="VAR_003155"
FT VARIANT 67
FT /note="K -> Q (in Brooklyn; dbSNP:rs34264694)"
FT /evidence="ECO:0000269|PubMed:1703138"
FT /id="VAR_003157"
FT VARIANT 67
FT /note="K -> R (in Shanghai; dbSNP:rs35481866)"
FT /evidence="ECO:0000269|PubMed:2579547"
FT /id="VAR_003156"
FT VARIANT 68
FT /note="V -> M (in TNCY; hemoglobin Toms River; the side
FT chain of methionine decreases both the affinity of oxygen
FT for binding to the mutant hemoglobin subunit via steric
FT hindrance and the rate at which it does so; the mutant
FT methionine is converted to aspartic acid post-
FT translationally; dbSNP:rs587776864)"
FT /evidence="ECO:0000269|PubMed:21561349"
FT /id="VAR_065950"
FT VARIANT 73
FT /note="G -> R (in Minoo; dbSNP:rs281860594)"
FT /evidence="ECO:0000269|PubMed:3120456"
FT /id="VAR_020650"
FT VARIANT 76
FT /note="I -> T (in LesVos/Waynesboro/Charlotte;
FT dbSNP:rs104894225)"
FT /evidence="ECO:0000269|PubMed:1714434,
FT ECO:0000269|PubMed:8566966, ECO:0000269|PubMed:8718701"
FT /id="VAR_020651"
FT VARIANT 76
FT /note="I -> V (in Coigneres; dbSNP:rs34363111)"
FT /evidence="ECO:0000269|PubMed:11791877"
FT /id="VAR_030498"
FT VARIANT 78
FT /note="H -> R (in Kennestone; dbSNP:rs34150306)"
FT /evidence="ECO:0000269|PubMed:6192110"
FT /id="VAR_003162"
FT VARIANT 81
FT /note="D -> N (in Marietta; dbSNP:rs63751148)"
FT /id="VAR_020652"
FT VARIANT 93
FT /note="H -> Y (in TNCY; hemoglobin Fort Ripley;
FT dbSNP:rs35103459)"
FT /evidence="ECO:0000269|PubMed:2470017"
FT /id="VAR_003166"
FT VARIANT 95
FT /note="D -> N (in Columbus-Ga; dbSNP:rs35812514)"
FT /evidence="ECO:0000269|PubMed:6186636"
FT /id="VAR_003167"
FT VARIANT 102
FT /note="E -> K (in La Grange; dbSNP:rs34876238)"
FT /evidence="ECO:0000269|PubMed:6206897"
FT /id="VAR_003169"
FT VARIANT 105
FT /note="K -> N (in Macedonia-II; dbSNP:rs35717854)"
FT /evidence="ECO:0000269|PubMed:7713741"
FT /id="VAR_003170"
FT VARIANT 106
FT /note="L -> H (in TNCY; hemoglobin F-Brugine/Feldkirch;
FT lowered affinity for oxygen)"
FT /evidence="ECO:0000269|PubMed:24502349"
FT /id="VAR_073159"
FT VARIANT 118
FT /note="H -> R (in Malta-1; dbSNP:rs36049074)"
FT /evidence="ECO:0000269|PubMed:5792729"
FT /id="VAR_003171"
FT VARIANT 119
FT /note="F -> L (in Calabria; dbSNP:rs35020253)"
FT /evidence="ECO:0000269|PubMed:10722114"
FT /id="VAR_015740"
FT VARIANT 121
FT /note="K -> Q (in Caltech; dbSNP:rs34703519)"
FT /evidence="ECO:0000269|PubMed:6186635"
FT /id="VAR_003172"
FT VARIANT 122
FT /note="E -> K (in Carlton; dbSNP:rs63750021)"
FT /evidence="ECO:0000269|PubMed:836882"
FT /id="VAR_020653"
FT VARIANT 126
FT /note="E -> A (in Port-Royal; dbSNP:rs34997902)"
FT /evidence="ECO:0000269|PubMed:4846278"
FT /id="VAR_003174"
FT VARIANT 131
FT /note="W -> G (in Poole; unstable; dbSNP:rs35826780)"
FT /evidence="ECO:0000269|PubMed:1127124"
FT /id="VAR_003176"
FT VARIANT 147
FT /note="H -> Y (in Onoda; O(2) affinity up;
FT dbSNP:rs34807671)"
FT /evidence="ECO:0000269|PubMed:1703139"
FT /id="VAR_003179"
FT HELIX 6..18
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 21..35
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 37..42
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 44..46
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 52..56
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 59..76
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 77..81
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 82..85
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 87..95
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 102..119
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 120..122
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 125..142
FT /evidence="ECO:0007829|PDB:4MQJ"
FT HELIX 143..146
FT /evidence="ECO:0007829|PDB:4MQJ"
SQ SEQUENCE 147 AA; 16126 MW; 8FCDC4441B416DDE CRC64;
MGHFTEEDKA TITSLWGKVN VEDAGGETLG RLLVVYPWTQ RFFDSFGNLS SASAIMGNPK
VKAHGKKVLT SLGDAIKHLD DLKGTFAQLS ELHCDKLHVD PENFKLLGNV LVTVLAIHFG
KEFTPEVQAS WQKMVTGVAS ALSSRYH
