ID   VPS45_HUMAN             Reviewed;         570 AA.
AC   Q9NRW7; D3DUZ9; F5H8K1; Q15715; Q53FR8; Q5T4P6; Q9Y4Z6;
DT   19-SEP-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2000, sequence version 1.
DT   27-MAR-2024, entry version 186.
DE   RecName: Full=Vacuolar protein sorting-associated protein 45;
DE            Short=h-VPS45;
DE            Short=hlVps45;
GN   Name=VPS45; Synonyms=VPS45A, VPS45B;
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).
RC   TISSUE=Brain;
RX   PubMed=8996080; DOI=10.1016/s0378-1119(96)00367-8;
RA   Pevsner J., Hsu S.-C., Hyde P.S., Scheller R.H.;
RT   "Mammalian homologues of yeast vacuolar protein sorting (vps) genes
RT   implicated in Golgi-to-lysosome trafficking.";
RL   Gene 183:7-14(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC   TISSUE=Leukocyte;
RX   PubMed=10404641; DOI=10.1016/s1357-2725(99)00017-5;
RA   Rajasekariah P., Eyre H.J., Stanley K.K., Walls R.S., Sutherland G.R.;
RT   "Molecular cloning and characterization of a cDNA encoding the human
RT   leucocyte vacuolar protein sorting (hlVps45).";
RL   Int. J. Biochem. Cell Biol. 31:683-694(1999).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Hematopoietic stem cell;
RA   Gu J., Huang Q., Yu Y., Xu S., Han Z., Fu G., Zhou J., Wang Y., Huang C.,
RA   Ren S., Tu Y., Chen Z.;
RT   "Novel genes expressed in hematopoietic stem/progenitor cells from
RT   myelodysplastic syndrome patients.";
RL   Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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] (ISOFORM 1).
RC   TISSUE=Gastric mucosa;
RA   Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA   Tanaka A., Yokoyama S.;
RL   Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [7]
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   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Colon, and Hippocampus;
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   [9]
RP   INTERACTION WITH ZFYVE20.
RX   PubMed=11062261; DOI=10.1083/jcb.151.3.601;
RA   Nielsen E., Christoforidis S., Uttenweiler-Joseph S., Miaczynska M.,
RA   Dewitte F., Wilm M., Hoflack B., Zerial M.;
RT   "Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited
RT   to endosomes through a FYVE finger domain.";
RL   J. Cell Biol. 151:601-612(2000).
RN   [10]
RP   INTERACTION WITH ZFYVE20.
RX   PubMed=11788822; DOI=10.1038/ncb744;
RA   de Renzis S., Soennichsen B., Zerial M.;
RT   "Divalent Rab effectors regulate the sub-compartmental organization and
RT   sorting of early endosomes.";
RL   Nat. Cell Biol. 4:124-133(2002).
RN   [11]
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   [12]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-307, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE 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   [13]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-307, 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   [14]
RP   VARIANTS SCN5 ASN-224 AND LYS-238.
RX   PubMed=23738510; DOI=10.1056/nejmoa1301296;
RA   Vilboux T., Lev A., Malicdan M.C., Simon A.J., Jarvinen P., Racek T.,
RA   Puchalka J., Sood R., Carrington B., Bishop K., Mullikin J., Huizing M.,
RA   Garty B.Z., Eyal E., Wolach B., Gavrieli R., Toren A., Soudack M.,
RA   Atawneh O.M., Babushkin T., Schiby G., Cullinane A., Avivi C.,
RA   Polak-Charcon S., Barshack I., Amariglio N., Rechavi G.,
RA   van der Werff ten Bosch J., Anikster Y., Klein C., Gahl W.A., Somech R.;
RT   "A congenital neutrophil defect syndrome associated with mutations in
RT   VPS45.";
RL   N. Engl. J. Med. 369:54-65(2013).
CC   -!- FUNCTION: May play a role in vesicle-mediated protein trafficking from
CC       the Golgi stack through the trans-Golgi network.
CC   -!- SUBUNIT: Interacts with STX6 (By similarity). Interacts with ZFYVE20.
CC       {ECO:0000250, ECO:0000269|PubMed:11062261,
CC       ECO:0000269|PubMed:11788822}.
CC   -!- INTERACTION:
CC       Q9NRW7; Q9H1K0: RBSN; NbExp=4; IntAct=EBI-1782543, EBI-1105310;
CC       Q9NRW7; O14662-5: STX16; NbExp=3; IntAct=EBI-1782543, EBI-9089968;
CC   -!- SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250};
CC       Peripheral membrane protein {ECO:0000250}. Endosome membrane
CC       {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
CC       Note=Associated with Golgi/endosomal vesicles and the trans-Golgi
CC       network. {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9NRW7-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9NRW7-2; Sequence=VSP_056739, VSP_056740, VSP_056741;
CC   -!- TISSUE SPECIFICITY: Ubiquitous. Expression was highest in testis, heart
CC       and brain, intermediate in kidney, spleen, prostate, ovary, small
CC       intestine and thymus and low in lung, skeletal muscle, placenta, colon,
CC       pancreas, peripheral blood leukocytes and liver.
CC   -!- DISEASE: Neutropenia, severe congenital 5, autosomal recessive (SCN5)
CC       [MIM:615285]: An autosomal recessive primary immunodeficiency disorder
CC       characterized primarily by neutropenia and neutrophil dysfunction, a
CC       lack of response to G-CSF, life-threatening infections, bone marrow
CC       fibrosis, and renal extramedullary hematopoiesis.
CC       {ECO:0000269|PubMed:23738510}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the STXBP/unc-18/SEC1 family. {ECO:0000305}.
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DR   EMBL; U35246; AAC50931.1; -; mRNA.
DR   EMBL; AJ133421; CAB40417.1; -; mRNA.
DR   EMBL; AF165513; AAF86643.1; -; mRNA.
DR   EMBL; AK023170; BAB14443.1; -; mRNA.
DR   EMBL; AK223214; BAD96934.1; -; mRNA.
DR   EMBL; AL358073; CAI14265.1; -; Genomic_DNA.
DR   EMBL; CH471121; EAW53584.1; -; Genomic_DNA.
DR   EMBL; CH471121; EAW53585.1; -; Genomic_DNA.
DR   EMBL; BC012932; AAH12932.1; -; mRNA.
DR   EMBL; BC028382; AAH28382.1; -; mRNA.
DR   CCDS; CCDS60244.1; -. [Q9NRW7-2]
DR   CCDS; CCDS944.1; -. [Q9NRW7-1]
DR   PIR; JC5722; JC5722.
DR   RefSeq; NP_001266282.1; NM_001279353.1. [Q9NRW7-2]
DR   RefSeq; NP_001266283.1; NM_001279354.1.
DR   RefSeq; NP_009190.2; NM_007259.4. [Q9NRW7-1]
DR   AlphaFoldDB; Q9NRW7; -.
DR   SMR; Q9NRW7; -.
DR   BioGRID; 116443; 164.
DR   DIP; DIP-46823N; -.
DR   IntAct; Q9NRW7; 45.
DR   MINT; Q9NRW7; -.
DR   STRING; 9606.ENSP00000495563; -.
DR   iPTMnet; Q9NRW7; -.
DR   PhosphoSitePlus; Q9NRW7; -.
DR   SwissPalm; Q9NRW7; -.
DR   BioMuta; VPS45; -.
DR   DMDM; 23396937; -.
DR   EPD; Q9NRW7; -.
DR   jPOST; Q9NRW7; -.
DR   MassIVE; Q9NRW7; -.
DR   MaxQB; Q9NRW7; -.
DR   PaxDb; 9606-ENSP00000358126; -.
DR   PeptideAtlas; Q9NRW7; -.
DR   ProteomicsDB; 27808; -.
DR   ProteomicsDB; 82431; -. [Q9NRW7-1]
DR   Pumba; Q9NRW7; -.
DR   Antibodypedia; 34017; 326 antibodies from 31 providers.
DR   DNASU; 11311; -.
DR   Ensembl; ENST00000369128.9; ENSP00000358124.5; ENSG00000136631.16. [Q9NRW7-2]
DR   Ensembl; ENST00000644510.2; ENSP00000495563.1; ENSG00000136631.16. [Q9NRW7-1]
DR   GeneID; 11311; -.
DR   KEGG; hsa:11311; -.
DR   MANE-Select; ENST00000644510.2; ENSP00000495563.1; NM_007259.5; NP_009190.2.
DR   UCSC; uc001etp.5; human. [Q9NRW7-1]
DR   AGR; HGNC:14579; -.
DR   CTD; 11311; -.
DR   DisGeNET; 11311; -.
DR   GeneCards; VPS45; -.
DR   HGNC; HGNC:14579; VPS45.
DR   HPA; ENSG00000136631; Low tissue specificity.
DR   MalaCards; VPS45; -.
DR   MIM; 610035; gene.
DR   MIM; 615285; phenotype.
DR   neXtProt; NX_Q9NRW7; -.
DR   OpenTargets; ENSG00000136631; -.
DR   Orphanet; 369852; Congenital neutropenia-myelofibrosis-nephromegaly syndrome.
DR   PharmGKB; PA37901; -.
DR   VEuPathDB; HostDB:ENSG00000136631; -.
DR   eggNOG; KOG1299; Eukaryota.
DR   GeneTree; ENSGT00550000075028; -.
DR   HOGENOM; CLU_013933_3_1_1; -.
DR   InParanoid; Q9NRW7; -.
DR   OMA; VHQLNNA; -.
DR   OrthoDB; 49088at2759; -.
DR   PhylomeDB; Q9NRW7; -.
DR   TreeFam; TF300407; -.
DR   PathwayCommons; Q9NRW7; -.
DR   Reactome; R-HSA-6811438; Intra-Golgi traffic.
DR   Reactome; R-HSA-9754560; SARS-CoV-2 modulates autophagy.
DR   Reactome; R-HSA-983231; Factors involved in megakaryocyte development and platelet production.
DR   SignaLink; Q9NRW7; -.
DR   BioGRID-ORCS; 11311; 205 hits in 1170 CRISPR screens.
DR   ChiTaRS; VPS45; human.
DR   GeneWiki; VPS45; -.
DR   GenomeRNAi; 11311; -.
DR   Pharos; Q9NRW7; Tbio.
DR   PRO; PR:Q9NRW7; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q9NRW7; Protein.
DR   Bgee; ENSG00000136631; Expressed in cerebellar cortex and 209 other cell types or tissues.
DR   ExpressionAtlas; Q9NRW7; baseline and differential.
DR   GO; GO:0010008; C:endosome membrane; TAS:Reactome.
DR   GO; GO:0005794; C:Golgi apparatus; ISS:BHF-UCL.
DR   GO; GO:0000139; C:Golgi membrane; IBA:GO_Central.
DR   GO; GO:0016020; C:membrane; ISS:BHF-UCL.
DR   GO; GO:0008021; C:synaptic vesicle; IEA:Ensembl.
DR   GO; GO:0006886; P:intracellular protein transport; IBA:GO_Central.
DR   GO; GO:0016192; P:vesicle-mediated transport; IBA:GO_Central.
DR   Gene3D; 1.25.40.60; -; 1.
DR   Gene3D; 3.40.50.1910; -; 1.
DR   Gene3D; 3.40.50.2060; -; 1.
DR   InterPro; IPR043154; Sec-1-like_dom1.
DR   InterPro; IPR043127; Sec-1-like_dom3a.
DR   InterPro; IPR001619; Sec1-like.
DR   InterPro; IPR027482; Sec1-like_dom2.
DR   InterPro; IPR036045; Sec1-like_sf.
DR   PANTHER; PTHR11679:SF3; VACUOLAR PROTEIN SORTING-ASSOCIATED PROTEIN 45; 1.
DR   PANTHER; PTHR11679; VESICLE PROTEIN SORTING-ASSOCIATED; 1.
DR   Pfam; PF00995; Sec1; 1.
DR   PIRSF; PIRSF005715; VPS45_Sec1; 1.
DR   SUPFAM; SSF56815; Sec1/munc18-like (SM) proteins; 1.
DR   Genevisible; Q9NRW7; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Disease variant; Endosome; Golgi apparatus; Membrane;
KW   Phosphoprotein; Protein transport; Reference proteome; Transport.
FT   CHAIN           1..570
FT                   /note="Vacuolar protein sorting-associated protein 45"
FT                   /id="PRO_0000206312"
FT   MOD_RES         307
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163,
FT                   ECO:0007744|PubMed:24275569"
FT   MOD_RES         441
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:O08700"
FT   VAR_SEQ         1..36
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_056739"
FT   VAR_SEQ         124..192
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_056740"
FT   VAR_SEQ         542..570
FT                   /note="SFLEEVLASGLHSRSKESSQVTSRSASRR -> RDGVSLCSPAWFRTPGLKR
FT                   STRLSLPKCWDYSFPRGSSGFWTAQPKQGELSSHIKVSEQKMKRWLGEGHSFLSCPHYR
FT                   FSLLNKGVGEQLWVLCWLLELISR (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_056741"
FT   VARIANT         224
FT                   /note="T -> N (in SCN5; patient fibroblasts are
FT                   characterized by impaired motility and increased apoptosis;
FT                   dbSNP:rs879255237)"
FT                   /evidence="ECO:0000269|PubMed:23738510"
FT                   /id="VAR_069865"
FT   VARIANT         238
FT                   /note="E -> K (in SCN5; dbSNP:rs782269909)"
FT                   /evidence="ECO:0000269|PubMed:23738510"
FT                   /id="VAR_069866"
FT   CONFLICT        81..82
FT                   /note="YI -> SL (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        92
FT                   /note="T -> S (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        163
FT                   /note="T -> A (in Ref. 5; BAD96934)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        188
FT                   /note="A -> G (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        196
FT                   /note="T -> S (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        219
FT                   /note="C -> L (in Ref. 2; CAB40417)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        241
FT                   /note="G -> D (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        298
FT                   /note="K -> R (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        370
FT                   /note="I -> V (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        385
FT                   /note="A -> V (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        407..408
FT                   /note="MM -> IV (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        412
FT                   /note="N -> H (in Ref. 5; BAD96934)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        412
FT                   /note="N -> S (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        416
FT                   /note="S -> A (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        481
FT                   /note="R -> K (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        537
FT                   /note="V -> I (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        557
FT                   /note="K -> R (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        562
FT                   /note="V -> A (in Ref. 1; AAC50931)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   570 AA;  65077 MW;  5574F0BE3A7D4EB3 CRC64;
     MNVVFAVKQY ISKMIEDSGP GMKVLLMDKE TTGIVSMVYT QSEILQKEVY LFERIDSQNR
     EIMKHLKAIC FLRPTKENVD YIIQELRRPK YTIYFIYFSN VISKSDVKSL AEADEQEVVA
     EVQEFYGDYI AVNPHLFSLN ILGCCQGRNW DPAQLSRTTQ GLTALLLSLK KCPMIRYQLS
     SEAAKRLAEC VKQVITKEYE LFEFRRTEVP PLLLILDRCD DAITPLLNQW TYQAMVHELL
     GINNNRIDLS RVPGISKDLR EVVLSAENDE FYANNMYLNF AEIGSNIKNL MEDFQKKKPK
     EQQKLESIAD MKAFVENYPQ FKKMSGTVSK HVTVVGELSR LVSERNLLEV SEVEQELACQ
     NDHSSALQNI KRLLQNPKVT EFDAARLVML YALHYERHSS NSLPGLMMDL RNKGVSEKYR
     KLVSAVVEYG GKRVRGSDLF SPKDAVAITK QFLKGLKGVE NVYTQHQPFL HETLDHLIKG
     RLKENLYPYL GPSTLRDRPQ DIIVFVIGGA TYEEALTVYN LNRTTPGVRI VLGGTTVHNT
     KSFLEEVLAS GLHSRSKESS QVTSRSASRR
//