ID   ROBO4_HUMAN             Reviewed;        1007 AA.
AC   Q8WZ75; A8K154; Q14DU7; Q8TEG1; Q96JV6; Q9H718; Q9NWJ8;
DT   21-JUN-2004, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2002, sequence version 1.
DT   27-MAR-2024, entry version 175.
DE   RecName: Full=Roundabout homolog 4;
DE   AltName: Full=Magic roundabout;
DE   Flags: Precursor;
GN   Name=ROBO4; ORFNames=UNQ421/PRO3674;
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] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX   PubMed=11944987; DOI=10.1006/geno.2002.6745;
RA   Huminiecki L., Gorn M., Suchting S., Poulsom R., Bicknell R.;
RT   "Magic roundabout is a new member of the roundabout receptor family that is
RT   endothelial specific and expressed at sites of active angiogenesis.";
RL   Genomics 79:547-552(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-1007 (ISOFORM 1).
RX   PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA   Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA   Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA   Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA   Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA   Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT   identify novel human secreted and transmembrane proteins: a bioinformatics
RT   assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC   TISSUE=Adipose tissue, Brain, and Colon;
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Brain, and Ovary;
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   [5]
RP   GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-246.
RC   TISSUE=Plasma;
RX   PubMed=16335952; DOI=10.1021/pr0502065;
RA   Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J.,
RA   Smith R.D.;
RT   "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT   hydrazide chemistry, and mass spectrometry.";
RL   J. Proteome Res. 4:2070-2080(2005).
RN   [6]
RP   GLYCOSYLATION AT ASN-246.
RX   PubMed=19139490; DOI=10.1074/mcp.m800504-mcp200;
RA   Jia W., Lu Z., Fu Y., Wang H.P., Wang L.H., Chi H., Yuan Z.F., Zheng Z.B.,
RA   Song L.N., Han H.H., Liang Y.M., Wang J.L., Cai Y., Zhang Y.K., Deng Y.L.,
RA   Ying W.T., He S.M., Qian X.H.;
RT   "A strategy for precise and large scale identification of core fucosylated
RT   glycoproteins.";
RL   Mol. Cell. Proteomics 8:913-923(2009).
RN   [7]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-805, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Liver;
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA   Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT   phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
RN   [8]
RP   FUNCTION, TISSUE SPECIFICITY, VARIANTS AOVD3 CYS-64; THR-95; MET-232;
RP   ALA-247; SER-280; GLN-411; VAL-510; 568-ARG--SER-1007 DEL; HIS-622 AND
RP   LEU-749, AND CHARACTERIZATION OF VARIANT AOVD3 CYS-64.
RX   PubMed=30455415; DOI=10.1038/s41588-018-0265-y;
RG   Baylor-Hopkins Center for Mendelian Genomics;
RG   MIBAVA Leducq Consortium;
RA   Gould R.A., Aziz H., Woods C.E., Seman-Senderos M.A., Sparks E., Preuss C.,
RA   Wuennemann F., Bedja D., Moats C.R., McClymont S.A., Rose R., Sobreira N.,
RA   Ling H., MacCarrick G., Kumar A.A., Luyckx I., Cannaerts E.,
RA   Verstraeten A., Bjoerk H.M., Lehsau A.C., Jaskula-Ranga V., Lauridsen H.,
RA   Shah A.A., Bennett C.L., Ellinor P.T., Lin H., Isselbacher E.M.,
RA   Lino Cardenas C.L., Butcher J.T., Hughes G.C., Lindsay M.E., Mertens L.,
RA   Franco-Cereceda A., Verhagen J.M.A., Wessels M., Mohamed S.A., Eriksson P.,
RA   Mital S., Van Laer L., Loeys B.L., Andelfinger G., McCallion A.S.,
RA   Dietz H.C.;
RT   "ROBO4 variants predispose individuals to bicuspid aortic valve and
RT   thoracic aortic aneurysm.";
RL   Nat. Genet. 51:42-50(2019).
CC   -!- FUNCTION: Receptor for Slit proteins, at least for SLIT2, and seems to
CC       be involved in angiogenesis and vascular patterning. May mediate the
CC       inhibition of primary endothelial cell migration by Slit proteins (By
CC       similarity). Involved in the maintenance of endothelial barrier
CC       organization and function (PubMed:30455415). {ECO:0000250,
CC       ECO:0000269|PubMed:30455415}.
CC   -!- SUBUNIT: Interacts with SLIT2 and ENAH. {ECO:0000250}.
CC   -!- INTERACTION:
CC       Q8WZ75; Q96LK0: CEP19; NbExp=3; IntAct=EBI-6508018, EBI-741885;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q8WZ75-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8WZ75-2; Sequence=VSP_010658, VSP_010659;
CC       Name=3;
CC         IsoId=Q8WZ75-3; Sequence=VSP_010654, VSP_010657;
CC   -!- TISSUE SPECIFICITY: Specifically expressed in endothelial cells.
CC       Expressed in endothelial and intimal cells of the ascending aorta
CC       (PubMed:30455415). {ECO:0000269|PubMed:11944987,
CC       ECO:0000269|PubMed:30455415}.
CC   -!- DISEASE: Aortic valve disease 3 (AOVD3) [MIM:618496]: A common defect
CC       in the aortic valve in which two rather than three leaflets are
CC       present. It is often associated with aortic valve calcification,
CC       stenosis and insufficiency. In extreme cases, the blood flow may be so
CC       restricted that the left ventricle fails to grow, resulting in
CC       hypoplastic left heart syndrome. AOVD3 features are bicuspid aortic
CC       valve, aortic valve stenosis, and ascending aortic aneurysm. Some
CC       patients have atrial septal defects. AOVD3 inheritance is autosomal
CC       dominant with incomplete penetrance. {ECO:0000269|PubMed:30455415}.
CC       Note=Disease susceptibility is associated with variants affecting the
CC       gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the immunoglobulin superfamily. ROBO family.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH64643.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=BAA91382.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=BAB15082.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=BAB55411.1; Type=Frameshift; Evidence={ECO:0000305};
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; AF361473; AAL31867.1; -; mRNA.
DR   EMBL; AY358083; AAQ88450.1; -; mRNA.
DR   EMBL; AK000805; BAA91382.1; ALT_INIT; mRNA.
DR   EMBL; AK025195; BAB15082.1; ALT_INIT; mRNA.
DR   EMBL; AK027852; BAB55411.1; ALT_FRAME; mRNA.
DR   EMBL; AK074163; BAB84989.1; -; mRNA.
DR   EMBL; AK289769; BAF82458.1; -; mRNA.
DR   EMBL; BC039602; AAH39602.1; -; mRNA.
DR   EMBL; BC064643; AAH64643.1; ALT_INIT; mRNA.
DR   EMBL; BC111562; AAI11563.1; -; mRNA.
DR   EMBL; BC111748; AAI11749.1; -; mRNA.
DR   CCDS; CCDS8455.1; -. [Q8WZ75-1]
DR   RefSeq; NP_001288017.1; NM_001301088.1.
DR   RefSeq; NP_061928.4; NM_019055.5. [Q8WZ75-1]
DR   AlphaFoldDB; Q8WZ75; -.
DR   SMR; Q8WZ75; -.
DR   BioGRID; 120025; 10.
DR   CORUM; Q8WZ75; -.
DR   IntAct; Q8WZ75; 6.
DR   STRING; 9606.ENSP00000304945; -.
DR   GlyConnect; 2004; 4 N-Linked glycans (1 site).
DR   GlyCosmos; Q8WZ75; 6 sites, 6 glycans.
DR   GlyGen; Q8WZ75; 6 sites, 4 N-linked glycans (1 site), 2 O-linked glycans (1 site).
DR   iPTMnet; Q8WZ75; -.
DR   PhosphoSitePlus; Q8WZ75; -.
DR   BioMuta; ROBO4; -.
DR   DMDM; 49036490; -.
DR   jPOST; Q8WZ75; -.
DR   MassIVE; Q8WZ75; -.
DR   PaxDb; 9606-ENSP00000304945; -.
DR   PeptideAtlas; Q8WZ75; -.
DR   ProteomicsDB; 75232; -. [Q8WZ75-1]
DR   ProteomicsDB; 75233; -. [Q8WZ75-2]
DR   ProteomicsDB; 75234; -. [Q8WZ75-3]
DR   Antibodypedia; 32921; 504 antibodies from 30 providers.
DR   DNASU; 54538; -.
DR   Ensembl; ENST00000306534.8; ENSP00000304945.3; ENSG00000154133.15. [Q8WZ75-1]
DR   GeneID; 54538; -.
DR   KEGG; hsa:54538; -.
DR   MANE-Select; ENST00000306534.8; ENSP00000304945.3; NM_019055.6; NP_061928.4.
DR   UCSC; uc001qbg.4; human. [Q8WZ75-1]
DR   AGR; HGNC:17985; -.
DR   CTD; 54538; -.
DR   DisGeNET; 54538; -.
DR   GeneCards; ROBO4; -.
DR   HGNC; HGNC:17985; ROBO4.
DR   HPA; ENSG00000154133; Low tissue specificity.
DR   MalaCards; ROBO4; -.
DR   MIM; 607528; gene.
DR   MIM; 618496; phenotype.
DR   neXtProt; NX_Q8WZ75; -.
DR   OpenTargets; ENSG00000154133; -.
DR   PharmGKB; PA34622; -.
DR   VEuPathDB; HostDB:ENSG00000154133; -.
DR   eggNOG; KOG4222; Eukaryota.
DR   GeneTree; ENSGT00940000161382; -.
DR   InParanoid; Q8WZ75; -.
DR   OMA; WEPPPHE; -.
DR   OrthoDB; 5352847at2759; -.
DR   PhylomeDB; Q8WZ75; -.
DR   TreeFam; TF351053; -.
DR   PathwayCommons; Q8WZ75; -.
DR   SignaLink; Q8WZ75; -.
DR   SIGNOR; Q8WZ75; -.
DR   BioGRID-ORCS; 54538; 14 hits in 1141 CRISPR screens.
DR   GeneWiki; ROBO4; -.
DR   GenomeRNAi; 54538; -.
DR   Pharos; Q8WZ75; Tbio.
DR   PRO; PR:Q8WZ75; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   RNAct; Q8WZ75; Protein.
DR   Bgee; ENSG00000154133; Expressed in lower lobe of lung and 181 other cell types or tissues.
DR   ExpressionAtlas; Q8WZ75; baseline and differential.
DR   GO; GO:0030424; C:axon; IBA:GO_Central.
DR   GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR   GO; GO:0016020; C:membrane; TAS:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR   GO; GO:0098632; F:cell-cell adhesion mediator activity; IBA:GO_Central.
DR   GO; GO:0038023; F:signaling receptor activity; TAS:UniProtKB.
DR   GO; GO:0001525; P:angiogenesis; IGI:UniProtKB.
DR   GO; GO:0007411; P:axon guidance; IBA:GO_Central.
DR   GO; GO:0070593; P:dendrite self-avoidance; IBA:GO_Central.
DR   GO; GO:0061028; P:establishment of endothelial barrier; IMP:UniProtKB.
DR   GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IBA:GO_Central.
DR   GO; GO:0030334; P:regulation of cell migration; NAS:UniProtKB.
DR   CDD; cd00063; FN3; 1.
DR   CDD; cd05724; IgI_2_Robo; 1.
DR   Gene3D; 2.60.40.10; Immunoglobulins; 4.
DR   InterPro; IPR003961; FN3_dom.
DR   InterPro; IPR036116; FN3_sf.
DR   InterPro; IPR007110; Ig-like_dom.
DR   InterPro; IPR036179; Ig-like_dom_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   InterPro; IPR013098; Ig_I-set.
DR   InterPro; IPR003599; Ig_sub.
DR   InterPro; IPR003598; Ig_sub2.
DR   PANTHER; PTHR44170; PROTEIN SIDEKICK; 1.
DR   PANTHER; PTHR44170:SF49; PROTEIN SIDEKICK; 1.
DR   Pfam; PF00041; fn3; 1.
DR   Pfam; PF07679; I-set; 1.
DR   Pfam; PF13927; Ig_3; 1.
DR   SMART; SM00060; FN3; 2.
DR   SMART; SM00409; IG; 2.
DR   SMART; SM00408; IGc2; 2.
DR   SUPFAM; SSF49265; Fibronectin type III; 1.
DR   SUPFAM; SSF48726; Immunoglobulin; 2.
DR   PROSITE; PS50853; FN3; 2.
DR   PROSITE; PS50835; IG_LIKE; 2.
DR   Genevisible; Q8WZ75; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Angiogenesis; Developmental protein; Differentiation;
KW   Disease variant; Disulfide bond; Glycoprotein; Immunoglobulin domain;
KW   Phosphoprotein; Receptor; Reference proteome; Repeat; Signal.
FT   SIGNAL          1..27
FT                   /evidence="ECO:0000255"
FT   CHAIN           28..1007
FT                   /note="Roundabout homolog 4"
FT                   /id="PRO_0000031040"
FT   DOMAIN          32..131
FT                   /note="Ig-like C2-type 1"
FT   DOMAIN          137..224
FT                   /note="Ig-like C2-type 2"
FT   DOMAIN          248..345
FT                   /note="Fibronectin type-III 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT   DOMAIN          347..442
FT                   /note="Fibronectin type-III 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT   REGION          531..551
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          713..793
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          806..826
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          971..1007
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        531..548
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        724..739
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        752..766
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        767..790
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         805
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:24275569"
FT   MOD_RES         938
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q8C310"
FT   CARBOHYD        246
FT                   /note="N-linked (GlcNAc...) (complex) asparagine"
FT                   /evidence="ECO:0000269|PubMed:16335952,
FT                   ECO:0000269|PubMed:19139490"
FT   CARBOHYD        360
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        389
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        396
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        680
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   DISULFID        53..114
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT   DISULFID        158..207
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT   VAR_SEQ         24..133
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_010654"
FT   VAR_SEQ         813..1007
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_010657"
FT   VAR_SEQ         932..933
FT                   /note="DA -> GM (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_010658"
FT   VAR_SEQ         934..1007
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_010659"
FT   VARIANT         54
FT                   /note="Q -> R (in dbSNP:rs59648931)"
FT                   /id="VAR_062146"
FT   VARIANT         64
FT                   /note="R -> C (in AOVD3; loss of endothelial barrier
FT                   function in a dextran permeability assay;
FT                   dbSNP:rs201393279)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083093"
FT   VARIANT         95
FT                   /note="A -> T (in AOVD3; uncertain significance;
FT                   dbSNP:rs138370967)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083094"
FT   VARIANT         232
FT                   /note="T -> M (in AOVD3; uncertain significance;
FT                   dbSNP:rs150700978)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083095"
FT   VARIANT         247
FT                   /note="V -> A (in AOVD3; uncertain significance;
FT                   dbSNP:rs779392207)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083096"
FT   VARIANT         280
FT                   /note="Y -> S (in AOVD3; uncertain significance;
FT                   dbSNP:rs755747435)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083097"
FT   VARIANT         411
FT                   /note="H -> Q (in AOVD3; uncertain significance;
FT                   dbSNP:rs1565326476)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083098"
FT   VARIANT         510
FT                   /note="D -> V (in AOVD3; uncertain significance;
FT                   dbSNP:rs1565325937)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083099"
FT   VARIANT         568..1007
FT                   /note="Missing (in AOVD3; uncertain significance)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083100"
FT   VARIANT         622
FT                   /note="D -> H (in AOVD3; uncertain significance;
FT                   dbSNP:rs138111911)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083101"
FT   VARIANT         669
FT                   /note="R -> Q (in dbSNP:rs4408324)"
FT                   /id="VAR_053644"
FT   VARIANT         749
FT                   /note="A -> L (in AOVD3; uncertain significance; requires 2
FT                   nucleotide substitutions; dbSNP:rs1565322176)"
FT                   /evidence="ECO:0000269|PubMed:30455415"
FT                   /id="VAR_083102"
FT   CONFLICT        175
FT                   /note="G -> E (in Ref. 3; BAB55411)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        498
FT                   /note="H -> L (in Ref. 3; BAA91382)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        652
FT                   /note="Q -> P (in Ref. 3; BAB55411)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        662
FT                   /note="G -> D (in Ref. 3; BAB84989)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        860
FT                   /note="P -> L (in Ref. 3; BAB15082)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        864
FT                   /note="L -> F (in Ref. 3; BAB15082)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1007 AA;  107457 MW;  E43F246C59BE1415 CRC64;
     MGSGGDSLLG GRGSLPLLLL LIMGGMAQDS PPQILVHPQD QLFQGPGPAR MSCQASGQPP
     PTIRWLLNGQ PLSMVPPDPH HLLPDGTLLL LQPPARGHAH DGQALSTDLG VYTCEASNRL
     GTAVSRGARL SVAVLREDFQ IQPRDMVAVV GEQFTLECGP PWGHPEPTVS WWKDGKPLAL
     QPGRHTVSGG SLLMARAEKS DEGTYMCVAT NSAGHRESRA ARVSIQEPQD YTEPVELLAV
     RIQLENVTLL NPDPAEGPKP RPAVWLSWKV SGPAAPAQSY TALFRTQTAP GGQGAPWAEE
     LLAGWQSAEL GGLHWGQDYE FKVRPSSGRA RGPDSNVLLL RLPEKVPSAP PQEVTLKPGN
     GTVFVSWVPP PAENHNGIIR GYQVWSLGNT SLPPANWTVV GEQTQLEIAT HMPGSYCVQV
     AAVTGAGAGE PSRPVCLLLE QAMERATQEP SEHGPWTLEQ LRATLKRPEV IATCGVALWL
     LLLGTAVCIH RRRRARVHLG PGLYRYTSED AILKHRMDHS DSQWLADTWR STSGSRDLSS
     SSSLSSRLGA DARDPLDCRR SLLSWDSRSP GVPLLPDTST FYGSLIAELP SSTPARPSPQ
     VPAVRRLPPQ LAQLSSPCSS SDSLCSRRGL SSPRLSLAPA EAWKAKKKQE LQHANSSPLL
     RGSHSLELRA CELGNRGSKN LSQSPGAVPQ ALVAWRALGP KLLSSSNELV TRHLPPAPLF
     PHETPPTQSQ QTQPPVAPQA PSSILLPAAP IPILSPCSPP SPQASSLSGP SPASSRLSSS
     SLSSLGEDQD SVLTPEEVAL CLELSEGEET PRNSVSPMPR APSPPTTYGY ISVPTASEFT
     DMGRTGGGVG PKGGVLLCPP RPCLTPTPSE GSLANGWGSA SEDNAASARA SLVSSSDGSF
     LADAHFARAL AVAVDSFGFG LEPREADCVF IDASSPPSPR DEIFLTPNLS LPLWEWRPDW
     LEDMEVSHTQ RLGRGMPPWP PDSQISSQRS QLHCRMPKAG ASPVDYS
//