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GDF9_HUMAN
ID   GDF9_HUMAN              Reviewed;         454 AA.
AC   O60383; Q4VAW5;
DT   15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT   01-AUG-1998, sequence version 1.
DT   03-AUG-2022, entry version 168.
DE   RecName: Full=Growth/differentiation factor 9;
DE            Short=GDF-9;
DE   Flags: Precursor;
GN   Name=GDF9;
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 [LARGE SCALE GENOMIC DNA].
RX   PubMed=15372022; DOI=10.1038/nature02919;
RA   Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA   Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA   She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA   Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA   Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA   Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA   Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA   Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA   Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA   Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA   Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA   Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA   Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT   "The DNA sequence and comparative analysis of human chromosome 5.";
RL   Nature 431:268-274(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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   [3]
RP   TISSUE SPECIFICITY.
RX   PubMed=10443672; DOI=10.1210/jcem.84.8.5921;
RA   Aaltonen J., Laitinen M.P., Vuojolainen K., Jaatinen R.,
RA   Horelli-Kuitunen N., Seppae L., Louhio H., Tuuri T., Sjoeberg J.,
RA   Buetzow R., Hovatta O., Dale L., Ritvos O.;
RT   "Human growth differentiation factor 9 (GDF-9) and its novel homolog GDF-9B
RT   are expressed in oocytes during early folliculogenesis.";
RL   J. Clin. Endocrinol. Metab. 84:2744-2750(1999).
RN   [4]
RP   FUNCTION AS REGULATOR OF PROGESTERONE RELEASE, AND TISSUE SPECIFICITY.
RX   PubMed=12050262; DOI=10.1210/jcem.87.6.8551;
RA   Yamamoto N., Christenson L.K., McAllister J.M., Strauss J.F. III;
RT   "Growth differentiation factor-9 inhibits 3'5'-adenosine monophosphate-
RT   stimulated steroidogenesis in human granulosa and theca cells.";
RL   J. Clin. Endocrinol. Metab. 87:2849-2856(2002).
RN   [5]
RP   ERRATUM OF PUBMED:12050262.
RA   Yamamoto N., Christenson L.K., McAllister J.M., Strauss J.F. III;
RL   J. Clin. Endocrinol. Metab. 87:4495-4495(2002).
RN   [6]
RP   PHOSPHORYLATION.
RX   PubMed=18006624; DOI=10.1210/en.2007-1439;
RA   McMahon H.E., Sharma S., Shimasaki S.;
RT   "Phosphorylation of bone morphogenetic protein-15 and growth and
RT   differentiation factor-9 plays a critical role in determining agonistic or
RT   antagonistic functions.";
RL   Endocrinology 149:812-817(2008).
RN   [7]
RP   FUNCTION IN GRANULOSA CELLS PROLIFERATION.
RX   PubMed=19366876; DOI=10.1152/ajpendo.90929.2008;
RA   Huang Q., Cheung A.P., Zhang Y., Huang H.F., Auersperg N., Leung P.C.;
RT   "Effects of growth differentiation factor 9 on cell cycle regulators and
RT   ERK42/44 in human granulosa cell proliferation.";
RL   Am. J. Physiol. 296:E1344-E1353(2009).
RN   [8]
RP   PHOSPHORYLATION AT SER-325 BY CK, AND IDENTIFICATION BY MASS SPECTROMETRY.
RX   PubMed=20067794; DOI=10.1016/j.febslet.2009.12.052;
RA   Tibaldi E., Arrigoni G., Martinez H.M., Inagaki K., Shimasaki S.,
RA   Pinna L.A.;
RT   "Golgi apparatus casein kinase phosphorylates bioactive Ser-6 of bone
RT   morphogenetic protein 15 and growth and differentiation factor 9.";
RL   FEBS Lett. 584:801-805(2010).
RN   [9]
RP   FUNCTION AS REGULATOR OF STAR EXPRESSION AND PROGESTERONE RELEASE.
RX   PubMed=20660033; DOI=10.1210/jc.2010-0477;
RA   Shi F.T., Cheung A.P., Klausen C., Huang H.F., Leung P.C.;
RT   "Growth differentiation factor 9 reverses activin A suppression of
RT   steroidogenic acute regulatory protein expression and progesterone
RT   production in human granulosa-lutein cells.";
RL   J. Clin. Endocrinol. Metab. 95:E172-E180(2010).
RN   [10]
RP   FUNCTION IN PRIMORDIAL FOLLICLE DEVELOPMENT.
RX   PubMed=21632818; DOI=10.1210/jc.2011-0410;
RA   Kedem A., Fisch B., Garor R., Ben-Zaken A., Gizunterman T., Felz C.,
RA   Ben-Haroush A., Kravarusic D., Abir R.;
RT   "Growth differentiating factor 9 (GDF9) and bone morphogenetic protein 15
RT   both activate development of human primordial follicles in vitro, with
RT   seemingly more beneficial effects of GDF9.";
RL   J. Clin. Endocrinol. Metab. 96:E1246-E1254(2011).
RN   [11]
RP   FUNCTION.
RX   PubMed=21829661; DOI=10.1371/journal.pone.0022866;
RA   Shi F.T., Cheung A.P., Huang H.F., Leung P.C.;
RT   "Growth differentiation factor 9 (GDF9) suppresses follistatin and
RT   follistatin-like 3 production in human granulosa-lutein cells.";
RL   PLoS ONE 6:E22866-E22866(2011).
RN   [12]
RP   SPECIES-SPECIFIC OVULATION RATE DETERMINATION.
RX   PubMed=21970812; DOI=10.1016/j.mce.2011.09.033;
RA   Crawford J.L., McNatty K.P.;
RT   "The ratio of growth differentiation factor 9: bone morphogenetic protein
RT   15 mRNA expression is tightly co-regulated and differs between species over
RT   a wide range of ovulation rates.";
RL   Mol. Cell. Endocrinol. 348:339-343(2012).
RN   [13]
RP   INVOLVEMENT IN POF14.
RX   PubMed=29044499; DOI=10.1111/cge.13156;
RA   Franca M.M., Funari M.F.A., Nishi M.Y., Narcizo A.M., Domenice S.,
RA   Costa E.M.F., Lerario A.M., Mendonca B.B.;
RT   "Identification of the first homozygous 1-bp deletion in GDF9 gene leading
RT   to primary ovarian insufficiency by using targeted massively parallel
RT   sequencing.";
RL   Clin. Genet. 93:408-411(2018).
RN   [14]
RP   VARIANTS POF14 GLU-67 AND MET-216, AND INVOLVEMENT IN POF14.
RX   PubMed=16278619; DOI=10.1097/01.gme.0000184424.96437.7a;
RA   Dixit H., Rao L.K., Padmalatha V., Kanakavalli M., Deenadayal M., Gupta N.,
RA   Chakravarty B., Singh L.;
RT   "Mutational screening of the coding region of growth differentiation factor
RT   9 gene in Indian women with ovarian failure.";
RL   Menopause 12:749-754(2005).
RN   [15]
RP   VARIANT POF14 TYR-186, AND INVOLVEMENT IN POF14.
RX   PubMed=16645022; DOI=10.1530/eje.1.02135;
RA   Laissue P., Christin-Maitre S., Touraine P., Kuttenn F., Ritvos O.,
RA   Aittomaki K., Bourcigaux N., Jacquesson L., Bouchard P., Frydman R.,
RA   Dewailly D., Reyss A.-C., Jeffery L., Bachelot A., Massin N., Fellous M.,
RA   Veitia R.A.;
RT   "Mutations and sequence variants in GDF9 and BMP15 in patients with
RT   premature ovarian failure.";
RL   Eur. J. Endocrinol. 154:739-744(2006).
RN   [16]
RP   VARIANT POF14 SER-103, VARIANTS ILE-121; LEU-374 AND CYS-454, AND POSSIBLE
RP   INVOLVEMENT IN DIZYGOTIC TWINNING.
RX   PubMed=16954162; DOI=10.1210/jc.2006-0970;
RA   Palmer J.S., Zhao Z.Z., Hoekstra C., Hayward N.K., Webb P.M.,
RA   Whiteman D.C., Martin N.G., Boomsma D.I., Duffy D.L., Montgomery G.W.;
RT   "Novel variants in growth differentiation factor 9 in mothers of dizygotic
RT   twins.";
RL   J. Clin. Endocrinol. Metab. 91:4713-4716(2006).
RN   [17]
RP   VARIANT POF14 SER-103.
RX   PubMed=17156781; DOI=10.1016/j.fertnstert.2006.05.079;
RA   Kovanci E., Rohozinski J., Simpson J.L., Heard M.J., Bishop C.E.,
RA   Carson S.A.;
RT   "Growth differentiating factor-9 mutations may be associated with premature
RT   ovarian failure.";
RL   Fertil. Steril. 87:143-146(2007).
RN   [18]
RP   VARIANTS POF14 CYS-146; ALA-238 AND THR-428.
RX   PubMed=17482612; DOI=10.1016/j.fertnstert.2007.01.021;
RA   Zhao H., Qin Y., Kovanci E., Simpson J.L., Chen Z.J., Rajkovic A.;
RT   "Analyses of GDF9 mutation in 100 Chinese women with premature ovarian
RT   failure.";
RL   Fertil. Steril. 88:1474-1476(2007).
RN   [19]
RP   VARIANT POF14 TYR-57.
RX   PubMed=19438907; DOI=10.1111/j.1365-2265.2009.03613.x;
RA   Wang B., Wen Q., Ni F., Zhou S., Wang J., Cao Y., Ma X.;
RT   "Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic
RT   protein 15 (BMP15) mutation in Chinese women with premature ovarian
RT   failure.";
RL   Clin. Endocrinol. (Oxf.) 72:135-136(2010).
CC   -!- FUNCTION: Required for ovarian folliculogenesis. Promotes primordial
CC       follicle development. Stimulates granulosa cell proliferation. Promotes
CC       cell transition from G0/G1 to S and G2/M phases, through an increase of
CC       CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR
CC       expression and cAMP-dependent progesterone release in granulosa and
CC       thecal cells. Attenuates the suppressive effects of activin A on STAR
CC       expression and progesterone production by increasing the expression of
CC       inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein
CC       cells. {ECO:0000269|PubMed:12050262, ECO:0000269|PubMed:19366876,
CC       ECO:0000269|PubMed:20660033, ECO:0000269|PubMed:21632818,
CC       ECO:0000269|PubMed:21829661}.
CC   -!- SUBUNIT: Homodimer or heterodimer (Potential). But, in contrast to
CC       other members of this family, cannot be disulfide-linked (By
CC       similarity). {ECO:0000250, ECO:0000305}.
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
CC   -!- TISSUE SPECIFICITY: Expressed in ovarian granulosa cells. Present in
CC       oocytes of primary follicles (at protein level).
CC       {ECO:0000269|PubMed:10443672, ECO:0000269|PubMed:12050262}.
CC   -!- PTM: Phosphorylated; phosphorylation is critical for GDF9 function. In
CC       vitro, can be phosphorylated by CK at Ser-325.
CC       {ECO:0000269|PubMed:18006624, ECO:0000269|PubMed:20067794}.
CC   -!- DISEASE: Note=Altered GDF9 function may be involved in ovarian
CC       disorders and contribute to the likelihood of dizygotic twinning.
CC       {ECO:0000269|PubMed:16954162}.
CC   -!- DISEASE: Premature ovarian failure 14 (POF14) [MIM:618014]: An ovarian
CC       disorder defined as the cessation of ovarian function under the age of
CC       40 years. It is characterized by oligomenorrhea or amenorrhea, in the
CC       presence of elevated levels of serum gonadotropins and low estradiol.
CC       {ECO:0000269|PubMed:16278619, ECO:0000269|PubMed:16645022,
CC       ECO:0000269|PubMed:16954162, ECO:0000269|PubMed:17156781,
CC       ECO:0000269|PubMed:17482612, ECO:0000269|PubMed:19438907,
CC       ECO:0000269|PubMed:29044499}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- MISCELLANEOUS: Ovarian physiology and fertility are controlled by
CC       endocrine and paracrine signals. These act in a species-dependent
CC       manner and determine the ovulation quota in different mammalian
CC       species. While humans, and mammals such as the cow or red deer,
CC       normally ovulate only one egg per cycle, other mammals such as mouse
CC       and pig can ovulate in excess of ten per cycle. The mechanisms that
CC       regulate the species-specific differences in the number of follicles
CC       that go onto ovulate during each reproductive cycle are poorly
CC       understood. According to PubMed:21970812, mRNA expression levels of
CC       GDF9 and BMP15 are tightly coregulated within each species and
CC       influence species-specific ovulation-rates.
CC   -!- SIMILARITY: Belongs to the TGF-beta family. {ECO:0000305}.
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DR   EMBL; AC004500; AAC08450.1; -; Genomic_DNA.
DR   EMBL; BC096228; AAH96228.1; -; mRNA.
DR   EMBL; BC096229; AAH96229.1; -; mRNA.
DR   EMBL; BC096230; AAH96230.1; -; mRNA.
DR   EMBL; BC096231; AAH96231.1; -; mRNA.
DR   CCDS; CCDS4162.1; -.
DR   RefSeq; NP_001275753.1; NM_001288824.2.
DR   RefSeq; NP_005251.1; NM_005260.5.
DR   RefSeq; XP_011541610.1; XM_011543308.2.
DR   AlphaFoldDB; O60383; -.
DR   BioGRID; 108930; 58.
DR   IntAct; O60383; 50.
DR   MINT; O60383; -.
DR   STRING; 9606.ENSP00000367942; -.
DR   GlyGen; O60383; 6 sites.
DR   iPTMnet; O60383; -.
DR   PhosphoSitePlus; O60383; -.
DR   BioMuta; GDF9; -.
DR   MassIVE; O60383; -.
DR   PaxDb; O60383; -.
DR   PeptideAtlas; O60383; -.
DR   PRIDE; O60383; -.
DR   ProteomicsDB; 49386; -.
DR   Antibodypedia; 26178; 566 antibodies from 31 providers.
DR   DNASU; 2661; -.
DR   Ensembl; ENST00000378673.2; ENSP00000367942.2; ENSG00000164404.9.
DR   Ensembl; ENST00000464378.2; ENSP00000509893.1; ENSG00000164404.9.
DR   Ensembl; ENST00000687138.1; ENSP00000510441.1; ENSG00000164404.9.
DR   GeneID; 2661; -.
DR   KEGG; hsa:2661; -.
DR   MANE-Select; ENST00000687138.1; ENSP00000510441.1; NM_005260.7; NP_005251.1.
DR   UCSC; uc003kxz.3; human.
DR   CTD; 2661; -.
DR   DisGeNET; 2661; -.
DR   GeneCards; GDF9; -.
DR   HGNC; HGNC:4224; GDF9.
DR   HPA; ENSG00000164404; Tissue enhanced (testis).
DR   MalaCards; GDF9; -.
DR   MIM; 601918; gene.
DR   MIM; 618014; phenotype.
DR   neXtProt; NX_O60383; -.
DR   OpenTargets; ENSG00000164404; -.
DR   Orphanet; 619; NON RARE IN EUROPE: Primary ovarian failure.
DR   PharmGKB; PA28639; -.
DR   VEuPathDB; HostDB:ENSG00000164404; -.
DR   eggNOG; KOG3900; Eukaryota.
DR   GeneTree; ENSGT00940000159784; -.
DR   InParanoid; O60383; -.
DR   OMA; CAQHKQA; -.
DR   OrthoDB; 724783at2759; -.
DR   PhylomeDB; O60383; -.
DR   TreeFam; TF351788; -.
DR   PathwayCommons; O60383; -.
DR   SignaLink; O60383; -.
DR   BioGRID-ORCS; 2661; 7 hits in 1067 CRISPR screens.
DR   ChiTaRS; GDF9; human.
DR   GeneWiki; Growth_differentiation_factor-9; -.
DR   GenomeRNAi; 2661; -.
DR   Pharos; O60383; Tbio.
DR   PRO; PR:O60383; -.
DR   Proteomes; UP000005640; Chromosome 5.
DR   RNAct; O60383; protein.
DR   Bgee; ENSG00000164404; Expressed in oocyte and 100 other tissues.
DR   ExpressionAtlas; O60383; baseline and differential.
DR   Genevisible; O60383; HS.
DR   GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR   GO; GO:0005125; F:cytokine activity; IBA:GO_Central.
DR   GO; GO:0008083; F:growth factor activity; TAS:ProtInc.
DR   GO; GO:0070698; F:type I activin receptor binding; IBA:GO_Central.
DR   GO; GO:0030509; P:BMP signaling pathway; IBA:GO_Central.
DR   GO; GO:0007292; P:female gamete generation; TAS:ProtInc.
DR   GO; GO:0008284; P:positive regulation of cell population proliferation; IDA:UniProtKB.
DR   GO; GO:0010862; P:positive regulation of pathway-restricted SMAD protein phosphorylation; IBA:GO_Central.
DR   GO; GO:2000870; P:regulation of progesterone secretion; IDA:UniProtKB.
DR   GO; GO:0060395; P:SMAD protein signal transduction; IBA:GO_Central.
DR   GO; GO:0007179; P:transforming growth factor beta receptor signaling pathway; TAS:ProtInc.
DR   Gene3D; 2.10.90.10; -; 1.
DR   InterPro; IPR029034; Cystine-knot_cytokine.
DR   InterPro; IPR015617; Growth_differentiation_fac-9.
DR   InterPro; IPR001839; TGF-b_C.
DR   InterPro; IPR015615; TGF-beta-rel.
DR   InterPro; IPR017948; TGFb_CS.
DR   PANTHER; PTHR11848; PTHR11848; 1.
DR   PANTHER; PTHR11848:SF19; PTHR11848:SF19; 1.
DR   Pfam; PF00019; TGF_beta; 1.
DR   SMART; SM00204; TGFB; 1.
DR   SUPFAM; SSF57501; SSF57501; 1.
DR   PROSITE; PS00250; TGF_BETA_1; 1.
DR   PROSITE; PS51362; TGF_BETA_2; 1.
PE   1: Evidence at protein level;
KW   Cleavage on pair of basic residues; Cytokine; Disulfide bond; Glycoprotein;
KW   Growth factor; Phosphoprotein; Premature ovarian failure;
KW   Reference proteome; Secreted; Signal.
FT   SIGNAL          1..24
FT                   /evidence="ECO:0000255"
FT   PROPEP          25..319
FT                   /evidence="ECO:0000255"
FT                   /id="PRO_0000033980"
FT   CHAIN           320..454
FT                   /note="Growth/differentiation factor 9"
FT                   /id="PRO_0000033981"
FT   REGION          303..330
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        307..325
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         325
FT                   /note="Phosphoserine; by CK"
FT                   /evidence="ECO:0000305|PubMed:20067794"
FT   CARBOHYD        106
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        163
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        236
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        255
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        268
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        338
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   DISULFID        353..419
FT                   /evidence="ECO:0000250"
FT   DISULFID        382..451
FT                   /evidence="ECO:0000250"
FT   DISULFID        386..453
FT                   /evidence="ECO:0000250"
FT   VARIANT         57
FT                   /note="D -> Y (in POF14; unknown pathological significance;
FT                   dbSNP:rs138136756)"
FT                   /evidence="ECO:0000269|PubMed:19438907"
FT                   /id="VAR_066934"
FT   VARIANT         67
FT                   /note="K -> E (in POF14; unknown pathological
FT                   significance)"
FT                   /evidence="ECO:0000269|PubMed:16278619"
FT                   /id="VAR_058945"
FT   VARIANT         103
FT                   /note="P -> S (in POF14; unknown pathological significance;
FT                   also found at higher frequency in mothers of dizygotic
FT                   twins than in controls; dbSNP:rs61754583)"
FT                   /evidence="ECO:0000269|PubMed:16954162,
FT                   ECO:0000269|PubMed:17156781"
FT                   /id="VAR_066935"
FT   VARIANT         121
FT                   /note="T -> I (found at higher frequency in mothers of
FT                   dizygotic twins than in controls; dbSNP:rs149821575)"
FT                   /evidence="ECO:0000269|PubMed:16954162"
FT                   /id="VAR_066936"
FT   VARIANT         146
FT                   /note="R -> C (in POF14; unknown pathological significance;
FT                   dbSNP:rs76349024)"
FT                   /evidence="ECO:0000269|PubMed:17482612"
FT                   /id="VAR_066937"
FT   VARIANT         186
FT                   /note="S -> Y (in POF14; unknown pathological
FT                   significance)"
FT                   /evidence="ECO:0000269|PubMed:16645022"
FT                   /id="VAR_058946"
FT   VARIANT         216
FT                   /note="V -> M (in POF14; unknown pathological significance;
FT                   dbSNP:rs1205723048)"
FT                   /evidence="ECO:0000269|PubMed:16278619"
FT                   /id="VAR_058947"
FT   VARIANT         238
FT                   /note="T -> A (in POF14; unknown pathological
FT                   significance)"
FT                   /evidence="ECO:0000269|PubMed:17482612"
FT                   /id="VAR_066938"
FT   VARIANT         374
FT                   /note="P -> L (found at higher frequency in mothers of
FT                   dizygotic twins than in controls; dbSNP:rs373477788)"
FT                   /evidence="ECO:0000269|PubMed:16954162"
FT                   /id="VAR_066939"
FT   VARIANT         428
FT                   /note="S -> T (in POF14; unknown pathological significance;
FT                   dbSNP:rs118080183)"
FT                   /evidence="ECO:0000269|PubMed:17482612"
FT                   /id="VAR_066940"
FT   VARIANT         454
FT                   /note="R -> C (found at higher frequency in mothers of
FT                   dizygotic twins than in controls; dbSNP:rs61754582)"
FT                   /evidence="ECO:0000269|PubMed:16954162"
FT                   /id="VAR_066941"
SQ   SEQUENCE   454 AA;  51444 MW;  94EA366E90CDBC27 CRC64;
     MARPNKFLLW FCCFAWLCFP ISLGSQASGG EAQIAASAEL ESGAMPWSLL QHIDERDRAG
     LLPALFKVLS VGRGGSPRLQ PDSRALHYMK KLYKTYATKE GIPKSNRSHL YNTVRLFTPC
     TRHKQAPGDQ VTGILPSVEL LFNLDRITTV EHLLKSVLLY NINNSVSFSS AVKCVCNLMI
     KEPKSSSRTL GRAPYSFTFN SQFEFGKKHK WIQIDVTSLL QPLVASNKRS IHMSINFTCM
     KDQLEHPSAQ NGLFNMTLVS PSLILYLNDT SAQAYHSWYS LHYKRRPSQG PDQERSLSAY
     PVGEEAAEDG RSSHHRHRRG QETVSSELKK PLGPASFNLS EYFRQFLLPQ NECELHDFRL
     SFSQLKWDNW IVAPHRYNPR YCKGDCPRAV GHRYGSPVHT MVQNIIYEKL DSSVPRPSCV
     PAKYSPLSVL TIEPDGSIAY KEYEDMIATK CTCR
 
 
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