ID   TARSH_HUMAN             Reviewed;        1068 AA.
AC   Q7Z7G0; B3KSL4; Q6ZW20; Q6ZW22; Q9C082; Q9UFI6;
DT   19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT   29-SEP-2021, sequence version 2.
DT   24-JAN-2024, entry version 162.
DE   RecName: Full=Target of Nesh-SH3 {ECO:0000305};
DE            Short=Tarsh;
DE   AltName: Full=ABI gene family member 3-binding protein;
DE   AltName: Full=Nesh-binding protein;
DE            Short=NeshBP;
DE   Flags: Precursor;
GN   Name=ABI3BP {ECO:0000312|HGNC:HGNC:17265}; Synonyms=NESHBP, TARSH;
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 2), AND TISSUE SPECIFICITY.
RC   TISSUE=Placenta;
RX   PubMed=11501947; DOI=10.1007/s100380170049;
RA   Matsuda S., Iriyama C., Yokozaki S., Ichigotani Y., Shirafuji N.,
RA   Yamaki K., Hayakawa T., Hamaguchi M.;
RT   "Cloning and sequencing of a novel human gene that encodes a putative
RT   target protein of Nesh-SH3.";
RL   J. Hum. Genet. 46:483-486(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3 AND 4).
RC   TISSUE=Trachea;
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16641997; DOI=10.1038/nature04728;
RA   Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA   Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA   Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA   Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA   Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA   Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA   Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA   Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA   Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA   Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA   Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA   Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA   Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA   Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA   Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA   Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA   Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA   Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA   Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Lung;
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   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 699-1068.
RC   TISSUE=Uterus;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [7]
RP   GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-37.
RC   TISSUE=Liver;
RX   PubMed=19159218; DOI=10.1021/pr8008012;
RA   Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT   "Glycoproteomics analysis of human liver tissue by combination of multiple
RT   enzyme digestion and hydrazide chemistry.";
RL   J. Proteome Res. 8:651-661(2009).
RN   [8]
RP   VARIANT GLY-663.
RX   PubMed=28493397; DOI=10.1002/humu.23246;
RG   UK10K;
RA   Rainger J., Williamson K.A., Soares D.C., Truch J., Kurian D.,
RA   Gillessen-Kaesbach G., Seawright A., Prendergast J., Halachev M.,
RA   Wheeler A., McTeir L., Gill A.C., van Heyningen V., Davey M.G.,
RA   FitzPatrick D.R.;
RT   "A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.";
RL   Hum. Mutat. 38:942-946(2017).
CC   -!- SUBUNIT: Probably interacts with ABI3.
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1;
CC         IsoId=Q7Z7G0-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q7Z7G0-2; Sequence=VSP_010860, VSP_010861;
CC       Name=3;
CC         IsoId=Q7Z7G0-3; Sequence=VSP_061186, VSP_010861;
CC       Name=4;
CC         IsoId=Q7Z7G0-4; Sequence=VSP_061187, VSP_010861;
CC   -!- TISSUE SPECIFICITY: Expressed in brain, heart, lung, liver, pancreas
CC       kidney and placenta. {ECO:0000269|PubMed:11501947}.
CC   -!- DISEASE: Note=Defects in ABI3BP has been found in a patient with
CC       isolated coloboma, a defect of the eye characterized by the absence of
CC       ocular structures due to abnormal morphogenesis of the optic cup and
CC       stalk, and the fusion of the fetal fissure (optic fissure). Isolated
CC       colobomas may be associated with an abnormally small eye
CC       (microphthalmia) or small cornea. {ECO:0000269|PubMed:28493397}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH30221.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=CAB56034.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AB056106; BAB32867.1; -; mRNA.
DR   EMBL; AK093861; BAG52776.1; -; mRNA.
DR   EMBL; AK123737; BAC85685.1; -; mRNA.
DR   EMBL; AK123748; BAC85687.1; -; mRNA.
DR   EMBL; AC068763; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC069223; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC080014; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC093009; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC106721; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471052; EAW79811.1; -; Genomic_DNA.
DR   EMBL; BC030221; AAH30221.1; ALT_INIT; mRNA.
DR   EMBL; AL117664; CAB56034.1; ALT_INIT; mRNA.
DR   CCDS; CCDS46880.2; -. [Q7Z7G0-1]
DR   PIR; T17344; T17344.
DR   RefSeq; NP_056244.2; NM_015429.3. [Q7Z7G0-1]
DR   AlphaFoldDB; Q7Z7G0; -.
DR   SMR; Q7Z7G0; -.
DR   BioGRID; 117399; 9.
DR   IntAct; Q7Z7G0; 7.
DR   STRING; 9606.ENSP00000284322; -.
DR   GlyConnect; 1785; 25 N-Linked glycans (6 sites).
DR   GlyCosmos; Q7Z7G0; 7 sites, 24 glycans.
DR   GlyGen; Q7Z7G0; 2 sites, 5 N-linked glycans (1 site).
DR   iPTMnet; Q7Z7G0; -.
DR   PhosphoSitePlus; Q7Z7G0; -.
DR   BioMuta; ABI3BP; -.
DR   DMDM; 50401533; -.
DR   EPD; Q7Z7G0; -.
DR   jPOST; Q7Z7G0; -.
DR   MassIVE; Q7Z7G0; -.
DR   MaxQB; Q7Z7G0; -.
DR   PaxDb; 9606-ENSP00000284322; -.
DR   PeptideAtlas; Q7Z7G0; -.
DR   ProteomicsDB; 69533; -. [Q7Z7G0-1]
DR   ProteomicsDB; 69534; -. [Q7Z7G0-2]
DR   ProteomicsDB; 69535; -. [Q7Z7G0-3]
DR   ProteomicsDB; 69536; -. [Q7Z7G0-4]
DR   Antibodypedia; 32245; 253 antibodies from 26 providers.
DR   DNASU; 25890; -.
DR   Ensembl; ENST00000284322.10; ENSP00000284322.6; ENSG00000154175.19. [Q7Z7G0-1]
DR   GeneID; 25890; -.
DR   KEGG; hsa:25890; -.
DR   UCSC; uc003dun.4; human. [Q7Z7G0-1]
DR   AGR; HGNC:17265; -.
DR   CTD; 25890; -.
DR   DisGeNET; 25890; -.
DR   GeneCards; ABI3BP; -.
DR   HGNC; HGNC:17265; ABI3BP.
DR   HPA; ENSG00000154175; Low tissue specificity.
DR   MIM; 606279; gene.
DR   neXtProt; NX_Q7Z7G0; -.
DR   OpenTargets; ENSG00000154175; -.
DR   PharmGKB; PA134977769; -.
DR   VEuPathDB; HostDB:ENSG00000154175; -.
DR   eggNOG; ENOG502QRV7; Eukaryota.
DR   GeneTree; ENSGT00530000063558; -.
DR   HOGENOM; CLU_004059_0_0_1; -.
DR   InParanoid; Q7Z7G0; -.
DR   OrthoDB; 4212752at2759; -.
DR   PhylomeDB; Q7Z7G0; -.
DR   TreeFam; TF331037; -.
DR   PathwayCommons; Q7Z7G0; -.
DR   SignaLink; Q7Z7G0; -.
DR   BioGRID-ORCS; 25890; 12 hits in 1144 CRISPR screens.
DR   ChiTaRS; ABI3BP; human.
DR   GenomeRNAi; 25890; -.
DR   Pharos; Q7Z7G0; Tbio.
DR   PRO; PR:Q7Z7G0; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   RNAct; Q7Z7G0; Protein.
DR   Bgee; ENSG00000154175; Expressed in decidua and 172 other cell types or tissues.
DR   ExpressionAtlas; Q7Z7G0; baseline and differential.
DR   GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:BHF-UCL.
DR   GO; GO:0005576; C:extracellular region; HDA:BHF-UCL.
DR   GO; GO:0005615; C:extracellular space; HDA:BHF-UCL.
DR   GO; GO:0030198; P:extracellular matrix organization; IBA:GO_Central.
DR   GO; GO:0010811; P:positive regulation of cell-substrate adhesion; IBA:GO_Central.
DR   CDD; cd00063; FN3; 2.
DR   Gene3D; 2.60.40.10; Immunoglobulins; 2.
DR   InterPro; IPR003961; FN3_dom.
DR   InterPro; IPR036116; FN3_sf.
DR   InterPro; IPR013783; Ig-like_fold.
DR   InterPro; IPR049109; TARSH/FNDC1_C.
DR   PANTHER; PTHR23197:SF10; TARGET OF NESH-SH3; 1.
DR   PANTHER; PTHR23197; TARSH-RELATED FIBRONECTIN DOMAIN-CONTAINING; 1.
DR   Pfam; PF00041; fn3; 1.
DR   Pfam; PF21731; TARSH_C; 1.
DR   PRINTS; PR01217; PRICHEXTENSN.
DR   SMART; SM00060; FN3; 2.
DR   SUPFAM; SSF49265; Fibronectin type III; 2.
DR   PROSITE; PS50853; FN3; 2.
DR   Genevisible; Q7Z7G0; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Disease variant; Glycoprotein; Reference proteome;
KW   Repeat; Secreted; Signal.
FT   SIGNAL          1..21
FT                   /evidence="ECO:0000255"
FT   CHAIN           22..1068
FT                   /note="Target of Nesh-SH3"
FT                   /id="PRO_0000022472"
FT   DOMAIN          116..214
FT                   /note="Fibronectin type-III 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT   DOMAIN          833..926
FT                   /note="Fibronectin type-III 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00316"
FT   REGION          315..351
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          384..811
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        322..351
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        384..425
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        442..463
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        477..505
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        528..550
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        612..655
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        696..713
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        723..737
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CARBOHYD        37
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000269|PubMed:19159218"
FT   VAR_SEQ         1..607
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:11501947,
FT                   ECO:0000303|PubMed:14702039"
FT                   /id="VSP_010860"
FT   VAR_SEQ         1..524
FT                   /note="MLSSLGCLLLCGSITLALGNAQKLPKGKRPNLKVHINTTSDSILLKFLRPSP
FT                   NVKLEGLLLGYGSNVSPNQYFPLPAEGKFTEAIVDAEPKYLIVVRPAPPPSQKKSCSGK
FT                   TRSRKPLQLVVGTLTPSSVFLSWGFLINPHHDWTLPSHCPNDRFYTIRYREKDKEKKWI
FT                   FQICPATETIVENLKPNTVYEFGVKDNVEGGIWSKIFNHKTVVGSKKVNGKIQSTYDQD
FT                   HTVPAYVPRKLIPITIIKQVIQNVTHKDSAKSPEKAPLGGVILVHLIIPGLNETTVKLP
FT                   ASLMFEISDALKTQLAKNETLALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSAL
FT                   DVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDR
FT                   ILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKR
FT                   RPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHTK
FT                   -> MTESLPVSDVLESVTLSTESPKETIAPAKTDYVYPTAKAPLWPEEPKTEVVESITY
FT                   VSEPPETTLETSPLPSQSITLPSPDEPQTE (in isoform 3)"
FT                   /id="VSP_061186"
FT   VAR_SEQ         1..523
FT                   /note="MLSSLGCLLLCGSITLALGNAQKLPKGKRPNLKVHINTTSDSILLKFLRPSP
FT                   NVKLEGLLLGYGSNVSPNQYFPLPAEGKFTEAIVDAEPKYLIVVRPAPPPSQKKSCSGK
FT                   TRSRKPLQLVVGTLTPSSVFLSWGFLINPHHDWTLPSHCPNDRFYTIRYREKDKEKKWI
FT                   FQICPATETIVENLKPNTVYEFGVKDNVEGGIWSKIFNHKTVVGSKKVNGKIQSTYDQD
FT                   HTVPAYVPRKLIPITIIKQVIQNVTHKDSAKSPEKAPLGGVILVHLIIPGLNETTVKLP
FT                   ASLMFEISDALKTQLAKNETLALPAESKTPEVEKISARPTTVTPETVPRSTKPTTSSAL
FT                   DVSETTLASSEKPWIVPTAKISEDSKVLQPQTATYDVFSSPTTSDEPEISDSYTATSDR
FT                   ILDSIPPKTSRTLEQPRATLAPSETPFVPQKLEIFTSPEMQPTTPAPQQTTSIPSTPKR
FT                   RPRPKPPRTKPERTTSAGTITPKISKSPEPTWTTPAPGKTQFISLKPKIPLSPEVTHT
FT                   -> MTIVPTTDIEPVTVRTEATVTTLAPKTSQRTRTRRPRPKHKTTPRPETLQTKLDFG
FT                   PITPGTSSAPTTTTKRTRRPHPKPKTTPHPEVPQTKLAPKVPQRTHRPHPKPKTTLSPE
FT                   ELQTELVPVTDLGPVTFRTEIPATTLATKTSKRTRPPRPRPKTTPSPQAPETKPVPATV
FT                   LEPVTLRPEASTTLASKTSQRTRRPRLRTKTTPRPEAPES (in isoform 4)"
FT                   /id="VSP_061187"
FT   VAR_SEQ         669
FT                   /note="P -> PVLNRTTTRPTRPKPSGMPSGNGVGT (in isoform 2,
FT                   isoform 3 and isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:11501947,
FT                   ECO:0000303|PubMed:14702039"
FT                   /id="VSP_010861"
FT   VARIANT         663
FT                   /note="D -> G (found in a patient with isolated coloboma;
FT                   uncertain significance)"
FT                   /evidence="ECO:0000269|PubMed:28493397"
FT                   /id="VAR_079855"
SQ   SEQUENCE   1068 AA;  117895 MW;  E37ABB9F1EBCC0C5 CRC64;
     MLSSLGCLLL CGSITLALGN AQKLPKGKRP NLKVHINTTS DSILLKFLRP SPNVKLEGLL
     LGYGSNVSPN QYFPLPAEGK FTEAIVDAEP KYLIVVRPAP PPSQKKSCSG KTRSRKPLQL
     VVGTLTPSSV FLSWGFLINP HHDWTLPSHC PNDRFYTIRY REKDKEKKWI FQICPATETI
     VENLKPNTVY EFGVKDNVEG GIWSKIFNHK TVVGSKKVNG KIQSTYDQDH TVPAYVPRKL
     IPITIIKQVI QNVTHKDSAK SPEKAPLGGV ILVHLIIPGL NETTVKLPAS LMFEISDALK
     TQLAKNETLA LPAESKTPEV EKISARPTTV TPETVPRSTK PTTSSALDVS ETTLASSEKP
     WIVPTAKISE DSKVLQPQTA TYDVFSSPTT SDEPEISDSY TATSDRILDS IPPKTSRTLE
     QPRATLAPSE TPFVPQKLEI FTSPEMQPTT PAPQQTTSIP STPKRRPRPK PPRTKPERTT
     SAGTITPKIS KSPEPTWTTP APGKTQFISL KPKIPLSPEV THTKPAPKQT PRAPPKPKTS
     PRPRIPQTQP VPKVPQRVTA KPKTSPSPEV SYTTPAPKDV LLPHKPYPEV SQSEPAPLET
     RGIPFIPMIS PSPSQEELQT TLEETDQSTQ EPFTTKIPRT TELAKTTQAP HRFYTTVRPR
     TSDKPHIRPG VKQAPRPSGA DRNVSVDSTH PTKKPGTRRP PLPPRPTHPR RKPLPPNNVT
     GKPGSAGIIS SGPITTPPLR STPRPTGTPL ERIETDIKQP TVPASGEELE NITDFSSSPT
     RETDPLGKPR FKGPHVRYIQ KPDNSPCSIT DSVKRFPKEE ATEGNATSPP QNPPTNLTVV
     TVEGCPSFVI LDWEKPLNDT VTEYEVISRE NGSFSGKNKS IQMTNQTFST VENLKPNTSY
     EFQVKPKNPL GEGPVSNTVA FSTESADPRV SEPVSAGRDA IWTERPFNSD SYSECKGKQY
     VKRTWYKKFV GVQLCNSLRY KIYLSDSLTG KFYNIGDQRG HGEDHCQFVD SFLDGRTGQQ
     LTSDQLPIKE GYFRAVRQEP VQFGEIGGHT QINYVQWYEC GTTIPGKW
//