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SEM3A_HUMAN
ID   SEM3A_HUMAN             Reviewed;         771 AA.
AC   Q14563;
DT   30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1996, sequence version 1.
DT   03-AUG-2022, entry version 194.
DE   RecName: Full=Semaphorin-3A;
DE   AltName: Full=Semaphorin III;
DE            Short=Sema III;
DE   Flags: Precursor;
GN   Name=SEMA3A; Synonyms=SEMAD;
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 [MRNA].
RC   TISSUE=Fetal brain;
RX   PubMed=8269517; DOI=10.1016/0092-8674(93)90625-z;
RA   Kolodkin A.L., Matthes D.J., Goodman C.S.;
RT   "The semaphorin genes encode a family of transmembrane and secreted growth
RT   cone guidance molecules.";
RL   Cell 75:1389-1399(1993).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA   Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA   Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA   Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA   Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA   Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA   Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA   Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA   Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA   Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA   Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA   Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA   Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA   Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA   Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA   McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA   Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [3]
RP   INVOLVEMENT IN HH16, AND FUNCTION.
RX   PubMed=22416012; DOI=10.1093/humrep/des022;
RA   Young J., Metay C., Bouligand J., Tou B., Francou B., Maione L., Tosca L.,
RA   Sarfati J., Brioude F., Esteva B., Briand-Suleau A., Brisset S.,
RA   Goossens M., Tachdjian G., Guiochon-Mantel A.;
RT   "SEMA3A deletion in a family with Kallmann syndrome validates the role of
RT   semaphorin 3A in human puberty and olfactory system development.";
RL   Hum. Reprod. 27:1460-1465(2012).
RN   [4]
RP   TISSUE SPECIFICITY.
RX   PubMed=28270793; DOI=10.3389/fneur.2017.00049;
RA   Lindholm T., Risling M., Carlstedt T., Hammarberg H., Wallquist W.,
RA   Cullheim S., Skoeld M.K.;
RT   "Expression of Semaphorins, Neuropilins, VEGF, and Tenascins in Rat and
RT   Human Primary Sensory Neurons after a Dorsal Root Injury.";
RL   Front. Neurol. 8:49-49(2017).
RN   [5]
RP   VARIANT [LARGE SCALE ANALYSIS] THR-131.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
RN   [6]
RP   VARIANT SER-396.
RX   PubMed=21248752; DOI=10.1038/nature09639;
RA   Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H.,
RA   Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J.,
RA   Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M.,
RA   Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L.,
RA   Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J.,
RA   Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A.,
RA   Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K.,
RA   Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.;
RT   "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene
RT   PBRM1 in renal carcinoma.";
RL   Nature 469:539-542(2011).
RN   [7]
RP   VARIANTS HH16 TRP-66; SER-153; VAL-400; ILE-435; ALA-688; GLN-730 AND
RP   HIS-733, AND CHARACTERIZATION OF VARIANTS HH16 TRP-66; SER-153; VAL-400;
RP   ILE-435; ALA-688; GLN-730 AND HIS-733.
RX   PubMed=22927827; DOI=10.1371/journal.pgen.1002896;
RA   Hanchate N.K., Giacobini P., Lhuillier P., Parkash J., Espy C.,
RA   Fouveaut C., Leroy C., Baron S., Campagne C., Vanacker C., Collier F.,
RA   Cruaud C., Meyer V., Garcia-Pinero A., Dewailly D., Cortet-Rudelli C.,
RA   Gersak K., Metz C., Chabrier G., Pugeat M., Young J., Hardelin J.P.,
RA   Prevot V., Dode C.;
RT   "SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with
RT   Kallmann syndrome.";
RL   PLoS Genet. 8:E1002896-E1002896(2012).
RN   [8]
RP   VARIANTS HH16 TRP-66; ARG-82; SER-153; THR-342; ILE-435; GLY-447; TRP-484;
RP   MET-657 AND GLN-730.
RX   PubMed=25077900; DOI=10.1210/jc.2014-2110;
RA   Marcos S., Sarfati J., Leroy C., Fouveaut C., Parent P., Metz C.,
RA   Wolczynski S., Gerard M., Bieth E., Kurtz F., Verier-Mine O., Perrin L.,
RA   Archambeaud F., Cabrol S., Rodien P., Hove H., Prescott T., Lacombe D.,
RA   Christin-Maitre S., Touraine P., Hieronimus S., Dewailly D., Young J.,
RA   Pugeat M., Hardelin J.P., Dode C.;
RT   "The prevalence of CHD7 missense versus truncating mutations is higher in
RT   patients with Kallmann syndrome than in typical CHARGE patients.";
RL   J. Clin. Endocrinol. Metab. 99:E2138-2143(2014).
CC   -!- FUNCTION: Involved in the development of the olfactory system and in
CC       neuronal control of puberty. Induces the collapse and paralysis of
CC       neuronal growth cones. Could serve as a ligand that guides specific
CC       growth cones by a motility-inhibiting mechanism. Binds to the complex
CC       neuropilin-1/plexin-1. {ECO:0000269|PubMed:22416012}.
CC   -!- SUBUNIT: Interacts with PLXND1. {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
CC   -!- TISSUE SPECIFICITY: Expressed in the dorsal root ganglia.
CC       {ECO:0000269|PubMed:28270793}.
CC   -!- DOMAIN: Strong binding to neuropilin is mediated by the carboxy third
CC       of the protein.
CC   -!- DISEASE: Hypogonadotropic hypogonadism 16 with or without anosmia
CC       (HH16) [MIM:614897]: A disorder characterized by absent or incomplete
CC       sexual maturation by the age of 18 years, in conjunction with low
CC       levels of circulating gonadotropins and testosterone and no other
CC       abnormalities of the hypothalamic-pituitary axis. In some cases, it is
CC       associated with non-reproductive phenotypes, such as anosmia, cleft
CC       palate, and sensorineural hearing loss. Anosmia or hyposmia is related
CC       to the absence or hypoplasia of the olfactory bulbs and tracts.
CC       Hypogonadism is due to deficiency in gonadotropin-releasing hormone and
CC       probably results from a failure of embryonic migration of gonadotropin-
CC       releasing hormone-synthesizing neurons. In the presence of anosmia,
CC       idiopathic hypogonadotropic hypogonadism is referred to as Kallmann
CC       syndrome, whereas in the presence of a normal sense of smell, it has
CC       been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
CC       {ECO:0000269|PubMed:22416012, ECO:0000269|PubMed:22927827,
CC       ECO:0000269|PubMed:25077900}. Note=The disease may be caused by
CC       variants affecting distinct genetic loci, including the gene
CC       represented in this entry.
CC   -!- SIMILARITY: Belongs to the semaphorin family. {ECO:0000305}.
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DR   EMBL; L26081; AAA65938.1; -; mRNA.
DR   EMBL; AC004451; AAS00353.1; -; Genomic_DNA.
DR   EMBL; AC004848; AAC78622.1; -; Genomic_DNA.
DR   CCDS; CCDS5599.1; -.
DR   PIR; D49423; D49423.
DR   RefSeq; NP_006071.1; NM_006080.2.
DR   RefSeq; XP_005250167.1; XM_005250110.3.
DR   RefSeq; XP_005250168.1; XM_005250111.4.
DR   RefSeq; XP_006715902.1; XM_006715839.3.
DR   RefSeq; XP_011514036.1; XM_011515734.2.
DR   RefSeq; XP_016867162.1; XM_017011673.1.
DR   AlphaFoldDB; Q14563; -.
DR   SMR; Q14563; -.
DR   BioGRID; 115650; 12.
DR   CORUM; Q14563; -.
DR   DIP; DIP-5744N; -.
DR   IntAct; Q14563; 1.
DR   MINT; Q14563; -.
DR   STRING; 9606.ENSP00000265362; -.
DR   GlyGen; Q14563; 4 sites, 2 O-linked glycans (1 site).
DR   iPTMnet; Q14563; -.
DR   PhosphoSitePlus; Q14563; -.
DR   BioMuta; SEMA3A; -.
DR   DMDM; 8134674; -.
DR   EPD; Q14563; -.
DR   jPOST; Q14563; -.
DR   MassIVE; Q14563; -.
DR   MaxQB; Q14563; -.
DR   PaxDb; Q14563; -.
DR   PeptideAtlas; Q14563; -.
DR   PRIDE; Q14563; -.
DR   ProteomicsDB; 60045; -.
DR   Antibodypedia; 29608; 325 antibodies from 32 providers.
DR   DNASU; 10371; -.
DR   Ensembl; ENST00000265362.9; ENSP00000265362.3; ENSG00000075213.11.
DR   Ensembl; ENST00000436949.5; ENSP00000415260.1; ENSG00000075213.11.
DR   GeneID; 10371; -.
DR   KEGG; hsa:10371; -.
DR   MANE-Select; ENST00000265362.9; ENSP00000265362.3; NM_006080.3; NP_006071.1.
DR   UCSC; uc003uhz.4; human.
DR   CTD; 10371; -.
DR   DisGeNET; 10371; -.
DR   GeneCards; SEMA3A; -.
DR   GeneReviews; SEMA3A; -.
DR   HGNC; HGNC:10723; SEMA3A.
DR   HPA; ENSG00000075213; Tissue enhanced (retina).
DR   MalaCards; SEMA3A; -.
DR   MIM; 603961; gene.
DR   MIM; 614897; phenotype.
DR   neXtProt; NX_Q14563; -.
DR   OpenTargets; ENSG00000075213; -.
DR   Orphanet; 130; Brugada syndrome.
DR   Orphanet; 478; Kallmann syndrome.
DR   PharmGKB; PA35645; -.
DR   VEuPathDB; HostDB:ENSG00000075213; -.
DR   eggNOG; KOG3611; Eukaryota.
DR   GeneTree; ENSGT00940000158203; -.
DR   HOGENOM; CLU_009051_5_0_1; -.
DR   InParanoid; Q14563; -.
DR   OMA; GDYENTW; -.
DR   OrthoDB; 297290at2759; -.
DR   PhylomeDB; Q14563; -.
DR   TreeFam; TF316102; -.
DR   PathwayCommons; Q14563; -.
DR   Reactome; R-HSA-399954; Sema3A PAK dependent Axon repulsion.
DR   Reactome; R-HSA-399955; SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion.
DR   Reactome; R-HSA-399956; CRMPs in Sema3A signaling.
DR   SignaLink; Q14563; -.
DR   SIGNOR; Q14563; -.
DR   BioGRID-ORCS; 10371; 10 hits in 1076 CRISPR screens.
DR   ChiTaRS; SEMA3A; human.
DR   GeneWiki; SEMA3A; -.
DR   GenomeRNAi; 10371; -.
DR   Pharos; Q14563; Tbio.
DR   PRO; PR:Q14563; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q14563; protein.
DR   Bgee; ENSG00000075213; Expressed in stromal cell of endometrium and 128 other tissues.
DR   ExpressionAtlas; Q14563; baseline and differential.
DR   Genevisible; Q14563; HS.
DR   GO; GO:0030424; C:axon; IBA:GO_Central.
DR   GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR   GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR   GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR   GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR   GO; GO:0045499; F:chemorepellent activity; IBA:GO_Central.
DR   GO; GO:0038191; F:neuropilin binding; ISS:BHF-UCL.
DR   GO; GO:0030215; F:semaphorin receptor binding; IBA:GO_Central.
DR   GO; GO:0006915; P:apoptotic process; IEA:Ensembl.
DR   GO; GO:0048846; P:axon extension involved in axon guidance; ISS:BHF-UCL.
DR   GO; GO:0007411; P:axon guidance; IBA:GO_Central.
DR   GO; GO:0060385; P:axonogenesis involved in innervation; ISS:BHF-UCL.
DR   GO; GO:0150020; P:basal dendrite arborization; ISS:ARUK-UCL.
DR   GO; GO:0008045; P:motor neuron axon guidance; IBA:GO_Central.
DR   GO; GO:0050919; P:negative chemotaxis; IBA:GO_Central.
DR   GO; GO:0048843; P:negative regulation of axon extension involved in axon guidance; IBA:GO_Central.
DR   GO; GO:0010977; P:negative regulation of neuron projection development; IMP:ParkinsonsUK-UCL.
DR   GO; GO:0021675; P:nerve development; ISS:BHF-UCL.
DR   GO; GO:0001755; P:neural crest cell migration; IBA:GO_Central.
DR   GO; GO:1901166; P:neural crest cell migration involved in autonomic nervous system development; ISS:BHF-UCL.
DR   GO; GO:0001764; P:neuron migration; ISS:BHF-UCL.
DR   GO; GO:0021772; P:olfactory bulb development; IMP:UniProtKB.
DR   GO; GO:0030335; P:positive regulation of cell migration; IBA:GO_Central.
DR   GO; GO:0046330; P:positive regulation of JNK cascade; TAS:ARUK-UCL.
DR   GO; GO:2001224; P:positive regulation of neuron migration; IBA:GO_Central.
DR   GO; GO:0048841; P:regulation of axon extension involved in axon guidance; IDA:UniProtKB.
DR   GO; GO:0071526; P:semaphorin-plexin signaling pathway; IBA:GO_Central.
DR   GO; GO:1902285; P:semaphorin-plexin signaling pathway involved in neuron projection guidance; ISS:BHF-UCL.
DR   GO; GO:0048880; P:sensory system development; TAS:BHF-UCL.
DR   GO; GO:0061549; P:sympathetic ganglion development; ISS:BHF-UCL.
DR   GO; GO:0048485; P:sympathetic nervous system development; TAS:BHF-UCL.
DR   GO; GO:0097490; P:sympathetic neuron projection extension; ISS:BHF-UCL.
DR   GO; GO:0097491; P:sympathetic neuron projection guidance; ISS:BHF-UCL.
DR   CDD; cd11249; Sema_3A; 1.
DR   Gene3D; 2.130.10.10; -; 1.
DR   Gene3D; 2.60.40.10; -; 1.
DR   InterPro; IPR007110; Ig-like_dom.
DR   InterPro; IPR036179; Ig-like_dom_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   InterPro; IPR003599; Ig_sub.
DR   InterPro; IPR041416; IL-1RAcP-like_ig.
DR   InterPro; IPR016201; PSI.
DR   InterPro; IPR042820; Sema3A_sema.
DR   InterPro; IPR001627; Semap_dom.
DR   InterPro; IPR036352; Semap_dom_sf.
DR   InterPro; IPR027231; Semaphorin.
DR   InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR   PANTHER; PTHR11036; PTHR11036; 1.
DR   Pfam; PF18452; Ig_6; 1.
DR   Pfam; PF01403; Sema; 1.
DR   SMART; SM00409; IG; 1.
DR   SMART; SM00423; PSI; 1.
DR   SMART; SM00630; Sema; 1.
DR   SUPFAM; SSF101912; SSF101912; 1.
DR   SUPFAM; SSF48726; SSF48726; 1.
DR   PROSITE; PS50835; IG_LIKE; 1.
DR   PROSITE; PS51004; SEMA; 1.
PE   1: Evidence at protein level;
KW   Developmental protein; Differentiation; Disease variant; Disulfide bond;
KW   Glycoprotein; Hypogonadotropic hypogonadism; Immunoglobulin domain;
KW   Kallmann syndrome; Neurogenesis; Reference proteome; Secreted; Signal.
FT   SIGNAL          1..20
FT                   /evidence="ECO:0000255"
FT   CHAIN           21..771
FT                   /note="Semaphorin-3A"
FT                   /id="PRO_0000032303"
FT   DOMAIN          31..514
FT                   /note="Sema"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00352"
FT   DOMAIN          580..664
FT                   /note="Ig-like C2-type"
FT   REGION          728..771
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        748..771
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CARBOHYD        53
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        125
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        590
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   DISULFID        103..114
FT                   /evidence="ECO:0000250"
FT   DISULFID        132..141
FT                   /evidence="ECO:0000250"
FT   DISULFID        269..381
FT                   /evidence="ECO:0000250"
FT   DISULFID        293..341
FT                   /evidence="ECO:0000250"
FT   DISULFID        517..535
FT                   /evidence="ECO:0000250"
FT   DISULFID        649..722
FT                   /evidence="ECO:0000250"
FT   VARIANT         66
FT                   /note="R -> W (in HH16; phenotype consistent with Kallmann
FT                   syndrome; dbSNP:rs199979628)"
FT                   /evidence="ECO:0000269|PubMed:22927827,
FT                   ECO:0000269|PubMed:25077900"
FT                   /id="VAR_069200"
FT   VARIANT         82
FT                   /note="L -> R (in HH16; unknown pathological significance)"
FT                   /evidence="ECO:0000269|PubMed:25077900"
FT                   /id="VAR_072986"
FT   VARIANT         131
FT                   /note="A -> T (in a breast cancer sample; somatic mutation;
FT                   dbSNP:rs143007146)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_036283"
FT   VARIANT         153
FT                   /note="N -> S (in HH16; phenotype consistent with Kallmann
FT                   syndrome; dbSNP:rs139295139)"
FT                   /evidence="ECO:0000269|PubMed:22927827,
FT                   ECO:0000269|PubMed:25077900"
FT                   /id="VAR_069201"
FT   VARIANT         342
FT                   /note="M -> T (in HH16; phenotype consistent with Kallmann
FT                   syndrome)"
FT                   /evidence="ECO:0000269|PubMed:25077900"
FT                   /id="VAR_072987"
FT   VARIANT         396
FT                   /note="P -> S (found in a renal cell carcinoma sample;
FT                   somatic mutation; dbSNP:rs866354226)"
FT                   /evidence="ECO:0000269|PubMed:21248752"
FT                   /id="VAR_064749"
FT   VARIANT         400
FT                   /note="I -> V (in HH16; phenotype consistent with Kallmann
FT                   syndrome; digenic; found in a patient also carrying
FT                   mutation Cys-268 in PROKR2; dbSNP:rs36026860)"
FT                   /evidence="ECO:0000269|PubMed:22927827"
FT                   /id="VAR_069202"
FT   VARIANT         435
FT                   /note="V -> I (in HH16; phenotype consistent with Kallmann
FT                   syndrome; digenic; found in patients also carrying mutation
FT                   Cys-268 in PROKR2 or mutation Arg-687 in FGFR1;
FT                   dbSNP:rs147436181)"
FT                   /evidence="ECO:0000269|PubMed:22927827,
FT                   ECO:0000269|PubMed:25077900"
FT                   /id="VAR_069203"
FT   VARIANT         447
FT                   /note="D -> G (in HH16; phenotype consistent with Kallmann
FT                   syndrome; dbSNP:rs761486957)"
FT                   /evidence="ECO:0000269|PubMed:25077900"
FT                   /id="VAR_072988"
FT   VARIANT         484
FT                   /note="R -> W (in HH16; unknown pathological significance;
FT                   dbSNP:rs137871935)"
FT                   /evidence="ECO:0000269|PubMed:25077900"
FT                   /id="VAR_072989"
FT   VARIANT         657
FT                   /note="I -> M (in HH16; phenotype consistent with Kallmann
FT                   syndrome; dbSNP:rs748219597)"
FT                   /evidence="ECO:0000269|PubMed:25077900"
FT                   /id="VAR_072990"
FT   VARIANT         688
FT                   /note="T -> A (in HH16; phenotype consistent with Kallmann
FT                   syndrome; digenic; found in a patient also carrying
FT                   mutation Asp-217 in KAL1; dbSNP:rs318240751)"
FT                   /evidence="ECO:0000269|PubMed:22927827"
FT                   /id="VAR_069204"
FT   VARIANT         730
FT                   /note="R -> Q (in HH16; phenotype consistent with Kallmann
FT                   syndrome; dbSNP:rs318240752)"
FT                   /evidence="ECO:0000269|PubMed:22927827,
FT                   ECO:0000269|PubMed:25077900"
FT                   /id="VAR_069205"
FT   VARIANT         733
FT                   /note="R -> H (in HH16; phenotype consistent with Kallmann
FT                   syndrome; dbSNP:rs318240753)"
FT                   /evidence="ECO:0000269|PubMed:22927827"
FT                   /id="VAR_069206"
SQ   SEQUENCE   771 AA;  88889 MW;  9985F8D3EAED8456 CRC64;
     MGWLTRIVCL FWGVLLTARA NYQNGKNNVP RLKLSYKEML ESNNVITFNG LANSSSYHTF
     LLDEERSRLY VGAKDHIFSF DLVNIKDFQK IVWPVSYTRR DECKWAGKDI LKECANFIKV
     LKAYNQTHLY ACGTGAFHPI CTYIEIGHHP EDNIFKLENS HFENGRGKSP YDPKLLTASL
     LIDGELYSGT AADFMGRDFA IFRTLGHHHP IRTEQHDSRW LNDPKFISAH LISESDNPED
     DKVYFFFREN AIDGEHSGKA THARIGQICK NDFGGHRSLV NKWTTFLKAR LICSVPGPNG
     IDTHFDELQD VFLMNFKDPK NPVVYGVFTT SSNIFKGSAV CMYSMSDVRR VFLGPYAHRD
     GPNYQWVPYQ GRVPYPRPGT CPSKTFGGFD STKDLPDDVI TFARSHPAMY NPVFPMNNRP
     IVIKTDVNYQ FTQIVVDRVD AEDGQYDVMF IGTDVGTVLK VVSIPKETWY DLEEVLLEEM
     TVFREPTAIS AMELSTKQQQ LYIGSTAGVA QLPLHRCDIY GKACAECCLA RDPYCAWDGS
     ACSRYFPTAK RRTRRQDIRN GDPLTHCSDL HHDNHHGHSP EERIIYGVEN SSTFLECSPK
     SQRALVYWQF QRRNEERKEE IRVDDHIIRT DQGLLLRSLQ QKDSGNYLCH AVEHGFIQTL
     LKVTLEVIDT EHLEELLHKD DDGDGSKTKE MSNSMTPSQK VWYRDFMQLI NHPNLNTMDE
     FCEQVWKRDR KQRRQRPGHT PGNSNKWKHL QENKKGRNRR THEFERAPRS V
 
 
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