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2024-04-26 17:25:02, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000445 14798 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens plectin (PLEC), transcript variant 1, mRNA.
ACCESSION NM_000445
VERSION NM_000445.3 GI:254692905
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 14798)
AUTHORS Rezniczek,G.A., Walko,G. and Wiche,G.
TITLE Plectin gene defects lead to various forms of epidermolysis bullosa
simplex
JOURNAL Dermatol Clin 28 (1), 33-41 (2010)
PUBMED 19945614
REMARK Review article
Erratum:[Dermatol Clin. 2010 Apr;28(2):439-41]
REFERENCE 2 (bases 1 to 14798)
AUTHORS Winter,L., Abrahamsberg,C. and Wiche,G.
TITLE Plectin isoform 1b mediates mitochondrion-intermediate filament
network linkage and controls organelle shape
JOURNAL J. Cell Biol. 181 (6), 903-911 (2008)
PUBMED 18541706
REFERENCE 3 (bases 1 to 14798)
AUTHORS Sonnenberg,A. and Liem,R.K.
TITLE Plakins in development and disease
JOURNAL Exp. Cell Res. 313 (10), 2189-2203 (2007)
PUBMED 17499243
REMARK Review article
REFERENCE 4 (bases 1 to 14798)
AUTHORS Rezniczek,G.A., Konieczny,P., Nikolic,B., Reipert,S., Schneller,D.,
Abrahamsberg,C., Davies,K.E., Winder,S.J. and Wiche,G.
TITLE Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle
fibers through multiple interactions with beta-dystroglycan
JOURNAL J. Cell Biol. 176 (7), 965-977 (2007)
PUBMED 17389230
REFERENCE 5 (bases 1 to 14798)
AUTHORS Pfendner,E., Rouan,F. and Uitto,J.
TITLE Progress in epidermolysis bullosa: the phenotypic spectrum of
plectin mutations
JOURNAL Exp. Dermatol. 14 (4), 241-249 (2005)
PUBMED 15810881
REMARK GeneRIF: discussion of phenotypic spectrum of plectin mutations
[review]
Review article
REFERENCE 6 (bases 1 to 14798)
AUTHORS Pulkkinen,L., Smith,F.J., Shimizu,H., Murata,S., Yaoita,H.,
Hachisuka,H., Nishikawa,T., McLean,W.H. and Uitto,J.
TITLE Homozygous deletion mutations in the plectin gene (PLEC1) in
patients with epidermolysis bullosa simplex associated with
late-onset muscular dystrophy
JOURNAL Hum. Mol. Genet. 5 (10), 1539-1546 (1996)
PUBMED 8894687
REFERENCE 7 (bases 1 to 14798)
AUTHORS Smith,F.J., Eady,R.A., Leigh,I.M., McMillan,J.R., Rugg,E.L.,
Kelsell,D.P., Bryant,S.P., Spurr,N.K., Geddes,J.F., Kirtschig,G.,
Milana,G., de Bono,A.G., Owaribe,K., Wiche,G., Pulkkinen,L.,
Uitto,J., McLean,W.H. and Lane,E.B.
TITLE Plectin deficiency results in muscular dystrophy with epidermolysis
bullosa
JOURNAL Nat. Genet. 13 (4), 450-457 (1996)
PUBMED 8696340
REFERENCE 8 (bases 1 to 14798)
AUTHORS McLean,W.H., Pulkkinen,L., Smith,F.J., Rugg,E.L., Lane,E.B.,
Bullrich,F., Burgeson,R.E., Amano,S., Hudson,D.L., Owaribe,K.,
McGrath,J.A., McMillan,J.R., Eady,R.A., Leigh,I.M., Christiano,A.M.
and Uitto,J.
TITLE Loss of plectin causes epidermolysis bullosa with muscular
dystrophy: cDNA cloning and genomic organization
JOURNAL Genes Dev. 10 (14), 1724-1735 (1996)
PUBMED 8698233
REFERENCE 9 (bases 1 to 14798)
AUTHORS Gache,Y., Chavanas,S., Lacour,J.P., Wiche,G., Owaribe,K.,
Meneguzzi,G. and Ortonne,J.P.
TITLE Defective expression of plectin/HD1 in epidermolysis bullosa
simplex with muscular dystrophy
JOURNAL J. Clin. Invest. 97 (10), 2289-2298 (1996)
PUBMED 8636409
REFERENCE 10 (bases 1 to 14798)
AUTHORS Liu,C.G., Maercker,C., Castanon,M.J., Hauptmann,R. and Wiche,G.
TITLE Human plectin: organization of the gene, sequence analysis, and
chromosome localization (8q24)
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (9), 4278-4283 (1996)
PUBMED 8633055
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff in
collaboration with Gunther Rezniczek, Gerhard Wiche. The reference
sequence was derived from BP359323.1 and AY480044.1.
This sequence is a reference standard in the RefSeqGene project.
On Jul 25, 2009 this sequence version replaced gi:47607491.
Summary: Plectin is a prominent member of an important family of
structurally and in part functionally related proteins, termed
plakins or cytolinkers, that are capable of interlinking different
elements of the cytoskeleton. Plakins, with their multi-domain
structure and enormous size, not only play crucial roles in
maintaining cell and tissue integrity and orchestrating dynamic
changes in cytoarchitecture and cell shape, but also serve as
scaffolding platforms for the assembly, positioning, and regulation
of signaling complexes (reviewed in PMID: 9701547, 11854008, and
17499243). Plectin is expressed as several protein isoforms in a
wide range of cell types and tissues from a single gene located on
chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this
locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse
and rat) and the gene product had been referred to as
'hemidesmosomal protein 1' or 'plectin 1, intermediate filament
binding 500kDa'. These names were superseded by plectin. The
plectin gene locus in mouse on chromosome 15 has been analyzed in
detail (PMID: 10556294, 14559777), revealing a genomic exon-intron
organization with well over 40 exons spanning over 62 kb and an
unusual 5' transcript complexity of plectin isoforms. Eleven exons
(1-1j) have been identified that alternatively splice directly into
a common exon 2 which is the first exon to encode plectin's highly
conserved actin binding domain (ABD). Three additional exons (-1,
0a, and 0) splice into an alternative first coding exon (1c), and
two additional exons (2alpha and 3alpha) are optionally spliced
within the exons encoding the acting binding domain (exons 2-8).
Analysis of the human locus has identified eight of the eleven
alternative 5' exons found in mouse and rat (PMID: 14672974); exons
1i, 1j and 1h have not been confirmed in human. Furthermore,
isoforms lacking the central rod domain encoded by exon 31 have
been detected in mouse (PMID:10556294), rat (PMID: 9177781), and
human (PMID: 11441066, 10780662, 20052759). The short alternative
amino-terminal sequences encoded by the different first exons
direct the targeting of the various isoforms to distinct
subcellular locations (PMID: 14559777). As the expression of
specific plectin isoforms was found to be dependent on cell type
(tissue) and stage of development (PMID: 10556294, 12542521,
17389230) it appears that each cell type (tissue) contains a unique
set (proportion and composition) of plectin isoforms, as if
custom-made for specific requirements of the particular cells.
Concordantly, individual isoforms were found to carry out distinct
and specific functions (PMID: 14559777, 12542521, 18541706). In
1996, a number of groups reported that patients suffering from
epidermolysis bullosa simplex with muscular dystrophy (EBS-MD)
lacked plectin expression in skin and muscle tissues due to defects
in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687,
8696340). Two other subtypes of plectin-related EBS have been
described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of
plectin-related diseases see PMID: 15810881, 19945614. Mutations in
the plectin gene related to human diseases should be named based on
the position in NM_000445 (variant 1, isoform 1c), unless the
mutation is located within one of the other alternative first
exons, in which case the position in the respective Reference
Sequence should be used. [provided by RefSeq, Aug 2011].
Transcript Variant: This variant (1) contains the 5'-most coding
exon (exon 1c) and encodes isoform 1c.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: U53204.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: PMID: 18541706, 17389230
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-43 BP359323.1 1-43
44-14798 AY480044.1 1-14755
FEATURES Location/Qualifiers
source 1..14798
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="8"
/map="8q24"
gene 1..14798
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="plectin"
/db_xref="GeneID:5339"
/db_xref="HGNC:9069"
/db_xref="HPRD:03180"
/db_xref="MIM:601282"
exon 1..43
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
misc_feature 23..25
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="upstream in-frame stop codon"
exon 44..242
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
misc_feature 44..242
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="exon 1c"
CDS 50..13774
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="isoform 1c is encoded by transcript variant 1;
plectin 1, intermediate filament binding protein 500kDa;
hemidesmosomal protein 1; plectin-1"
/codon_start=1
/product="plectin isoform 1c"
/protein_id="NP_000436.2"
/db_xref="GI:47607492"
/db_xref="CCDS:CCDS43769.1"
/db_xref="GeneID:5339"
/db_xref="HGNC:9069"
/db_xref="HPRD:03180"
/db_xref="MIM:601282"
/translation="
MSGEDAEVRAVSEDVSNGSSGSPSPGDTLPWNLGKTQRSRRSGGGAGSNGSVLDPAERAVIRIADERDRVQKKTFTKWVNKHLIKAQRHISDLYEDLRDGHNLISLLEVLSGDSLPREKGRMRFHKLQNVQIALDYLRHRQVKLVNIRNDDIADGNPKLTLGLIWTIILHFQISDIQVSGQSEDMTAKEKLLLWSQRMVEGYQGLRCDNFTSSWRDGRLFNAIIHRHKPLLIDMNKVYRQTNLENLDQAFSVAERDLGVTRLLDPEDVDVPQPDEKSIITYVSSLYDAMPRVPDVQDGVRANELQLRWQEYRELVLLLLQWMRHHTAAFEERRFPSSFEEIEILWSQFLKFKEMELPAKEADKNRSKGIYQSLEGAVQAGQLKVPPGYHPLDVEKEWGKLHVAILEREKQLRSEFERLECLQRIVTKLQMEAGLCEEQLNQADALLQSDVRLLAAGKVPQRAGEVERDLDKADSMIRLLFNDVQTLKDGRHPQGEQMYRRVYRLHERLVAIRTEYNLRLKAGVAAPATQVAQVTLQSVQRRPELEDSTLRYLQDLLAWVEENQHRVDGAEWGVDLPSVEAQLGSHRGLHQSIEEFRAKIERARSDEGQLSPATRGAYRDCLGRLDLQYAKLLNSSKARLRSLESLHSFVAAATKELMWLNEKEEEEVGFDWSDRNTNMTAKKESYSALMRELELKEKKIKELQNAGDRLLREDHPARPTVESFQAALQTQWSWMLQLCCCIEAHLKENAAYFQFFSDVREAEGQLQKLQEALRRKYSCDRSATVTRLEDLLQDAQDEKEQLNEYKGHLSGLAKRAKAVVQLKPRHPAHPMRGRLPLLAVCDYKQVEVTVHKGDECQLVGPAQPSHWKVLSSSGSEAAVPSVCFLVPPPNQEAQEAVTRLEAQHQALVTLWHQLHVDMKSLLAWQSLRRDVQLIRSWSLATFRTLKPEEQRQALHSLELHYQAFLRDSQDAGGFGPEDRLMAEREYGSCSHHYQQLLQSLEQGAQEESRCQRCISELKDIRLQLEACETRTVHRLRLPLDKEPARECAQRIAEQQKAQAEVEGLGKGVARLSAEAEKVLALPEPSPAAPTLRSELELTLGKLEQVRSLSAIYLEKLKTISLVIRGTQGAEEVLRAHEEQLKEAQAVPATLPELEATKASLKKLRAQAEAQQPTFDALRDELRGAQEVGERLQQRHGERDVEVERWRERVAQLLERWQAVLAQTDVRQRELEQLGRQLRYYRESADPLGAWLQDARRRQEQIQAMPLADSQAVREQLRQEQALLEEIERHGEKVEECQRFAKQYINAIKDYELQLVTYKAQLEPVASPAKKPKVQSGSESVIQEYVDLRTHYSELTTLTSQYIKFISETLRRMEEEERLAEQQRAEERERLAEVEAALEKQRQLAEAHAQAKAQAEREAKELQQRMQEEVVRREEAAVDAQQQKRSIQEELQQLRQSSEAEIQAKARQAEAAERSRLRIEEEIRVVRLQLEATERQRGGAEGELQALRARAEEAEAQKRQAQEEAERLRRQVQDESQRKRQAEVELASRVKAEAEAAREKQRALQALEELRLQAEEAERRLRQAEVERARQVQVALETAQRSAEAELQSKRASFAEKTAQLERSLQEEHVAVAQLREEAERRAQQQAEAERAREEAERELERWQLKANEALRLRLQAEEVAQQKSLAQAEAEKQKEEAEREARRRGKAEEQAVRQRELAEQELEKQRQLAEGTAQQRLAAEQELIRLRAETEQGEQQRQLLEEELARLQREAAAATQKRQELEAELAKVRAEMEVLLASKARAEEESRSTSEKSKQRLEAEAGRFRELAEEAARLRALAEEAKRQRQLAEEDAARQRAEAERVLAEKLAAIGEATRLKTEAEIALKEKEAENERLRRLAEDEAFQRRRLEEQAAQHKADIEERLAQLRKASDSELERQKGLVEDTLRQRRQVEEEILALKASFEKAAAGKAELELELGRIRSNAEDTLRSKEQAELEAARQRQLAAEEERRRREAEERVQKSLAAEEEAARQRKAALEEVERLKAKVEEARRLRERAEQESARQLQLAQEAAQKRLQAEEKAHAFAVQQKEQELQQTLQQEQSVLDQLRGEAEAARRAAEEAEEARVQAEREAAQSRRQVEEAERLKQSAEEQAQARAQAQAAAEKLRKEAEQEAARRAQAEQAALRQKQAADAEMEKHKKFAEQTLRQKAQVEQELTTLRLQLEETDHQKNLLDEELQRLKAEATEAARQRSQVEEELFSVRVQMEELSKLKARIEAENRALILRDKDNTQRFLQEEAEKMKQVAEEAARLSVAAQEAARLRQLAEEDLAQQRALAEKMLKEKMQAVQEATRLKAEAELLQQQKELAQEQARRLQEDKEQMAQQLAEETQGFQRTLEAERQRQLEMSAEAERLKLRVAEMSRAQARAEEDAQRFRKQAEEIGEKLHRTELATQEKVTLVQTLEIQRQQSDHDAERLREAIAELEREKEKLQQEAKLLQLKSEEMQTVQQEQLLQETQALQQSFLSEKDSLLQRERFIEQEKAKLEQLFQDEVAKAQQLREEQQRQQQQMEQERQRLVASMEEARRRQHEAEEGVRRKQEELQQLEQQRRQQEELLAEENQRLREQLQLLEEQHRAALAHSEEVTASQVAATKTLPNGRDALDGPAAEAEPEHSFDGLRRKVSAQRLQEAGILSAEELQRLAQGHTTVDELARREDVRHYLQGRSSIAGLLLKATNEKLSVYAALQRQLLSPGTALILLEAQAASGFLLDPVRNRRLTVNEAVKEGVVGPELHHKLLSAERAVTGYKDPYTGQQISLFQAMQKGLIVREHGIRLLEAQIATGGVIDPVHSHRVPVDVAYRRGYFDEEMNRVLADPSDDTKGFFDPNTHENLTYLQLLERCVEDPETGLCLLPLTDKAAKGGELVYTDSEARDVFEKATVSAPFGKFQGKTVTIWEIINSEYFTAEQRRDLLRQFRTGRITVEKIIKIIITVVEEQEQKGRLCFEGLRSLVPAAELLESRVIDRELYQQLQRGERSVRDVAEVDTVRRALRGANVIAGVWLEEAGQKLSIYNALKKDLLPSDMAVALLEAQAGTGHIIDPATSARLTVDEAVRAGLVGPEFHEKLLSAEKAVTGYRDPYTGQSVSLFQALKKGLIPREQGLRLLDAQLSTGGIVDPSKSHRVPLDVACARGCLDEETSRALSAPRADAKAYSDPSTGEPATYGELQQRCRPDQLTGLSLLPLSEKAARARQEELYSELQARETFEKTPVEVPVGGFKGRTVTVWELISSEYFTAEQRQELLRQFRTGKVTVEKVIKILITIVEEVETLRQERLSFSGLRAPVPASELLASGVLSRAQFEQLKDGKTTVKDLSELGSVRTLLQGSGCLAGIYLEDTKEKVSIYEAMRRGLLRATTAALLLEAQAATGFLVDPVRNQRLYVHEAVKAGVVGPELHEQLLSAEKAVTGYRDPYSGSTISLFQAMQKGLVLRQHGIRLLEAQIATGGIIDPVHSHRVPVDVAYQRGYFSEEMNRVLADPSDDTKGFFDPNTHENLTYRQLLERCVEDPETGLRLLPLKGAEKAEVVETTQVYTEEETRRAFEETQIDIPGGGSHGGSTMSLWEVMQSDLIPEEQRAQLMADFQAGRVTKERMIIIIIEIIEKTEIIRQQGLASYDYVRRRLTAEDLFEARIISLETYNLLREGTRSLREALEAESAWCYLYGTGSVAGVYLPGSRQTLSIYQALKKGLLSAEVARLLLEAQAATGFLLDPVKGERLTVDEAVRKGLVGPELHDRLLSAERAVTGYRDPYTEQTISLFQAMKKELIPTEEALRLLDAQLATGGIVDPRLGFHLPLEVAYQRGYLNKDTHDQLSEPSEVRSYVDPSTDERLSYTQLLRRCRRDDGTGQLLLPLSDARKLTFRGLRKQITMEELVRSQVMDEATALQLREGLTSIEEVTKNLQKFLEGTSCIAGVFVDATKERLSVYQAMKKGIIRPGTAFELLEAQAATGYVIDPIKGLKLTVEEAVRMGIVGPEFKDKLLSAERAVTGYKDPYSGKLISLFQAMKKGLILKDHGIRLLEAQIATGGIIDPEESHRLPVEVAYKRGLFDEEMNEILTDPSDDTKGFFDPNTEENLTYLQLMERCITDPQTGLCLLPLKEKKRERKTSSKSSVRKRRVVIVDPETGKEMSVYEAYRKGLIDHQTYLELSEQECEWEEITISSSDGVVKSMIIDRRSGRQYDIDDAIAKNLIDRSALDQYRAGTLSITEFADMLSGNAGGFRSRSSSVGSSSSYPISPAVSRTQLASWSDPTEETGPVAGILDTETLEKVSITEAMHRNLVDNITGQRLLEAQACTGGIIDPSTGERFPVTDAVNKGLVDKIMVDRINLAQKAFCGFEDPRTKTKMSAAQALKKGWLYYEAGQRFLEVQYLTGGLIEPDTPGRVPLDEALQRGTVDARTAQKLRDVGAYSKYLTCPKTKLKISYKDALDRSMVEEGTGLRLLEAAAQSTKGYYSPYSVSGSGSTAGSRTGSRTGSRAGSRRGSFDATGSGFSMTFSSSSYSSSGYGRRYASGSSASLGGPESAVA
"
misc_feature 257..565
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Calponin homology domain; actin-binding domain
which may be present as a single copy or in tandem repeats
(which increases binding affinity). The CH domain is found
in cytoskeletal and signal transduction proteins,
including actin-binding proteins like...; Region: CH;
cd00014"
/db_xref="CDD:28898"
misc_feature order(257..262,266..274,281..283,290..292,449..454,
461..463,470..472,476..478,521..526,533..538,542..547,
554..559)
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="putative actin binding surface [polypeptide
binding]; other site"
/db_xref="CDD:28898"
misc_feature 608..907
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Calponin homology domain; actin-binding domain
which may be present as a single copy or in tandem repeats
(which increases binding affinity). The CH domain is found
in cytoskeletal and signal transduction proteins,
including actin-binding proteins like...; Region: CH;
cd00014"
/db_xref="CDD:28898"
misc_feature order(608..610,614..622,629..631,638..640,797..802,
809..811,821..823,827..829,875..880,887..892,896..901)
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="putative actin binding surface [polypeptide
binding]; other site"
/db_xref="CDD:28898"
misc_feature 1694..2263
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 1979..1990
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 1982..2551
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Spectrin repeats, found in several proteins
involved in cytoskeletal structure; family members include
spectrin, alpha-actinin and dystrophin; the spectrin
repeat forms a three helix bundle with the second helix
interrupted by proline in some sequences; Region: SPEC;
cd00176"
/db_xref="CDD:29138"
misc_feature 2291..2308
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="linker region; other site"
/db_xref="CDD:29138"
misc_feature 8201..8329
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 8315..8443
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 8426..8536
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: PLEC; smart00250"
/db_xref="CDD:197605"
misc_feature 8537..8671
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 9179..9313
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; cl02531"
/db_xref="CDD:207632"
misc_feature 9299..9427
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 9410..9520
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: PLEC; smart00250"
/db_xref="CDD:197605"
misc_feature 9521..9655
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature <10316..10420
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 10403..10498
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: PLEC; smart00250"
/db_xref="CDD:197605"
misc_feature 10514..10648
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 11183..11311
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 11297..11425
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 11408..11518
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: PLEC; smart00250"
/db_xref="CDD:197605"
misc_feature 11519..11653
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 11906..12019
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: PLEC; smart00250"
/db_xref="CDD:197605"
misc_feature 12026..12154
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 12137..12232
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; cl02531"
/db_xref="CDD:207632"
misc_feature 12248..12382
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature <12557..12622
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: PLEC; smart00250"
/db_xref="CDD:197605"
misc_feature 12953..13054
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: PLEC; smart00250"
/db_xref="CDD:197605"
misc_feature 13055..13189
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
misc_feature 13283..13417
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/note="Plectin repeat; Region: Plectin; pfam00681"
/db_xref="CDD:201389"
exon 243..304
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 305..394
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 395..472
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 473..565
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 494
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:3135111"
variation 514
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:3134601"
variation 532
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:3135112"
exon 566..732
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 700
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:3134602"
exon 733..848
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 849..955
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 956..1075
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 1076..1171
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 1172..1299
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 1300..1393
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 1394..1548
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 1516
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:3134596"
variation 1534
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:3135102"
exon 1549..1867
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 1603
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:3134597"
variation 1836
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:3135103"
exon 1868..1945
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 1946..2107
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 2108..2212
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 2213..2308
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 2309..2434
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 2323
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:3135104"
variation 2350
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:3135105"
variation 2353
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:3135106"
variation 2375
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="t"
/db_xref="dbSNP:3135107"
exon 2435..2587
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 2588..2742
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 2724
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:3135108"
exon 2743..2869
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 2854
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:3134598"
exon 2870..3053
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 3054..3211
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 3212..3390
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 3391..3529
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 3530..3886
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 3644
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:3134599"
variation 3680
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:3135109"
variation 3719
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:3134600"
exon 3887..3970
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 3971..4075
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 4076..4174
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
exon 4175..7555
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 4321
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:2857822"
variation 4363
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2855760"
variation 4543
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:35916068"
variation 4703
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857823"
variation 4781
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2857824"
variation 4789
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:2855761"
variation 5002
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2857825"
variation 5018
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:2855762"
variation 5084..5085
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2857826"
variation 5084
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:2855763"
variation 5448
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857827"
variation 5905
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857828"
variation 6037
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2857829"
variation 6058
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:1140522"
variation 6167
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:34893635"
variation 6172
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:2857830"
variation 6181
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:2855764"
variation 6363
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857831"
variation 6449
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:2857832"
variation 7390
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:34490562"
exon 7556..14798
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/inference="alignment:Splign:1.39.8"
variation 8008
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:34803322"
variation 8155
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:35139934"
variation 8180
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:35723243"
variation 8449
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:34534853"
variation 8743
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:35821434"
variation 8798
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857833"
variation 9203
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:35027700"
variation 9231
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:35858667"
variation 9648
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="c"
/db_xref="dbSNP:2857834"
variation 9749
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2857803"
variation 9800
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2857804"
variation 9871
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857805"
variation 9895
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857806"
variation 9907
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="t"
/db_xref="dbSNP:34644439"
variation 10024
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:2857807"
variation 10058
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:2857808"
variation 10091
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:34132016"
variation 10096
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:35613096"
variation 10144
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:35775257"
variation 10176
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:34725742"
variation 10188
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:35261863"
variation 10311
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:2857809"
variation 10357
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2857810"
variation 10363
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857811"
variation 10776
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2857812"
variation 10846
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:34365303"
variation 11076
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:2857813"
variation 11116
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:35134741"
variation 11122
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2857814"
variation 11125
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:2857815"
variation 11142
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857816"
variation 11219
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:17062686"
variation 11316
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:35365120"
variation 11715
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857817"
variation 11717
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="c"
/db_xref="dbSNP:2857818"
variation 11995
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857819"
variation 12697
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="a"
/replace="g"
/db_xref="dbSNP:2857820"
variation 13120
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="g"
/db_xref="dbSNP:2857821"
variation 13198
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:2855765"
variation 13440
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:11555241"
variation 13784
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:1065837"
variation 14034
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace=""
/replace="g"
/db_xref="dbSNP:5895799"
variation 14229
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="g"
/replace="t"
/db_xref="dbSNP:11555242"
variation 14541
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:1138359"
variation 14656..14657
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:3209795"
variation 14657
/gene="PLEC"
/gene_synonym="EBS1; EBSO; HD1; LGMD2Q; PCN; PLEC1;
PLEC1b; PLTN"
/replace="c"
/replace="t"
/db_xref="dbSNP:7155"
ORIGIN
agtctggctgcggcggcagagctgaagtgagcggagccaccaggaggccatgtcgggtgaggacgctgaggtccgggcagtctctgaagatgtctccaatggaagcagtggctcgcccagccctggggacacactgccctggaaccttgggaaaacgcagcggagccggcgcagcgggggtggcgctgggagcaacgggagtgtcctggacccagctgagcgggcggtcattcgcatcgcagatgagcgggatcgtgtgcagaagaaaaccttcaccaagtgggtcaacaagcacctcatcaaggcccagaggcacatcagtgacctgtatgaagacctccgcgatggccacaacctcatctccctgctggaggtcctctcgggggacagcctgccccgggagaaggggaggatgcgtttccacaagctgcagaatgtccagattgccctggactacctccggcaccgccaggtgaagctggtgaacatcaggaatgatgacatcgctgacggcaaccccaagctgacccttggcctcatctggacaatcattctgcacttccagatctcagatatccaggtgagtgggcagtcggaggacatgacggccaaggagaagctgctgctgtggtcgcagcgaatggtggaggggtaccagggcctgcgatgcgacaacttcacctccagctggagagacggccgcctcttcaatgccatcatccaccggcacaagcccctgctcatcgacatgaacaaggtgtaccggcagaccaacctggagaacctggaccaggccttctctgtggcggagcgggacctgggagtgacgcggctcctggaccctgaggacgtggatgtccctcagcccgacgagaagtccatcatcacctacgtctcgtcgctgtatgacgccatgccccgcgtgccggacgtgcaggatggggtgagggccaacgagctgcagctgcgctggcaggagtaccgggagctggtgctgctgctgcttcagtggatgcgacaccacacggccgcctttgaggaacgcaggttcccctccagcttcgaggagattgagatcctgtggtctcagttcctgaagtttaaggagatggagctaccagccaaggaggccgacaagaacaggtccaagggcatctaccaatccctggagggagcggtgcaagcaggccagctcaaggtgccccctggctaccacccgctggatgtggagaaggagtggggcaagctgcacgtggccatcctggagcgggagaagcagctccgcagcgagtttgagaggctggagtgtcttcagcgcatcgtgaccaagctgcagatggaggcggggctgtgtgaggagcagctgaaccaggccgacgccctgctgcagtcggatgtccggctgctggctgcaggcaaagtgccacagcgggcgggggaggtggaacgggacttggacaaggcggatagcatgatccggctgctcttcaacgacgtgcagaccctcaaggatggacggcacccgcagggcgagcagatgtaccgcagggtgtaccgtctgcacgagcgcctggtagccatccgcaccgagtacaacctacggctgaaggcaggcgtggcggcccctgcaacccaggtggcccaggtgactctgcagagtgtgcagaggcgccccgagctggaggactccactctgcgctacctgcaggacctgctggcctgggtggaggagaaccagcaccgtgtggatggcgctgagtggggtgtggacctgcccagcgtggaggcgcagctgggcagccaccgaggcctgcaccagtccatcgaagaattccgggccaagatcgagcgggcacggagtgacgagggccagctctcccccgccacccggggtgcctaccgtgactgcctgggtcggctggacctgcagtacgccaagctgctgaactcctccaaggcccgcctcaggtccctggagagcttgcacagctttgtggcagccgccactaaggagctaatgtggctgaatgagaaggaggaggaggaggtgggcttcgactggagcgaccgcaacaccaacatgaccgccaagaaggagagctactcggcgctgatgcgggagctggagctgaaggagaagaagatcaaggagctccaaaatgctggggaccggctgctgcgggaggaccacccggcccggcccacggtggagtccttccaggcggccctgcagacgcagtggagctggatgctacagctgtgctgctgtatcgaggcacacctgaaggagaacgctgcctactttcagttcttctcagatgtgcgggaggccgaggggcagttgcagaagctgcaggaggcactgcgtaggaaatacagttgtgatcgctccgccaccgtcacccggctggaggacctgctgcaggatgcccaggacgagaaggaacagctgaacgagtacaagggccacctctcaggcctggccaagcgggccaaggccgtcgtgcagctgaagccccgccacccagcccaccccatgcggggccgcctgcccctgctggccgtgtgcgactataagcaggtggaggtgactgtgcacaagggtgacgagtgccagctggtgggccctgcacagccgtcccactggaaggtgctcagcagctccggcagcgaggccgccgtgccctccgtgtgcttcctggtgcccccgcccaaccaggaggcccaggaggccgtcaccaggctggaggcccagcaccaggccctggtcacgctgtggcaccagttgcacgtggacatgaagagccttctggcctggcagagccttcgccgcgacgtgcagctcatccgctcctggtccctggccacgttccgcaccctgaagccagaggagcagcgccaagccctgcacagcctggagctgcactaccaggccttcctgcgggacagccaggacgcgggcggcttcggacccgaggaccggctgatggctgagcgcgagtacggctcctgcagccaccactaccagcagctgctgcagagcctggaacagggtgcacaggaagagtctcgctgccagcgctgcatctccgagctcaaagacatccggctgcagctggaggcctgtgagacgcgcaccgtgcaccgcctgcggctgccgctggacaaagagccggcacgggagtgtgcccagcgcatcgccgagcagcagaaggcacaggcagaggtggaggggctgggcaagggggtcgcccggctctctgccgaggccgagaaggtcttggccctaccagagccatcgcctgcggcccccacgctgcgctcggagctggagctgacgctgggcaagctggagcaggtccgcagcctgtctgccatctacctggagaagctcaagaccatcagcctggtgatccgcggcacgcagggggccgaggaggtgctcagggcccacgaggagcagctcaaggaggcccaggccgtgccggccaccctcccggagctcgaggccaccaaggcctctctgaagaagctgcgggcccaggccgaggcacagcagcccacgttcgacgccctgcgggatgagctgcggggggcacaggaggtgggggagcgactgcagcagcggcacggggagcgggacgtggaggtggagcgctggcgggagcgggtcgcccagttgcttgagcgctggcaggctgtgctggcccagaccgacgtgcggcagcgcgagctcgagcaactgggccgccagctgcgttactaccgcgagagtgcagaccccttgggcgcctggctgcaggacgccaggcggcggcaggagcagatccaggccatgccgctggccgacagccaggctgtgcgggagcagctgcggcaggagcaggccctgctggaggagatcgagcgccacggcgagaaggtcgaggagtgccagaggtttgcgaaacagtacatcaacgccatcaaggactatgaactccagctggtgacgtacaaggcgcagcttgagccggtggcctccccggccaagaagcccaaggtccagtcgggatcagagagtgtcatccaggagtacgtggacctgcgtacgcactacagcgagctgaccacactgacgagccagtacatcaagttcatcagcgagactctgcggcgcatggaggaggaggagaggctggctgagcagcagcgggcagaggagcgcgagcggctggccgaggtggaggccgcgctggagaagcagcggcagctggccgaggcgcacgcccaggcaaaggcacaggcggagcgggaggcgaaggagctgcagcagcgcatgcaggaggaggtggtgcggcgggaggaggcggcggtggacgcgcagcagcagaagcgcagcattcaggaggagctgcagcagctgcggcagagctcggaggcggagatccaggccaaggcccggcaggcagaggcggctgagcgcagccggctgcgcatcgaggaggagatccgcgtggtgcgcctgcagttggaggccaccgagcgccagcgtggcggggctgagggggagctgcaggcactgcgtgcacgggcggaggaggctgaggcacaaaagcgacaggcgcaggaggaggccgagcgcttgcggaggcaggtgcaggacgagagccagcgtaagcggcaggcggaggtggagctggcctcgcgcgtgaaggccgaggccgaggcggcgcgcgagaagcagcgggccctgcaggccctggaggagctgcggctgcaggcggaggaggcggagcggcgcctgcggcaggccgaggtggagcgagcgcggcaggtacaggtggccctggagacggcgcagcgcagtgcagaggcggagctgcagagcaaacgcgcctccttcgccgagaagacggcacagctggagcgctccctgcaggaggaacacgtggctgtggcacagctgcgggaggaggctgagcggcgggcacagcagcaggccgaggccgagcgggcgcgcgaggaggcagagcgggagctggagcgctggcagctcaaggccaacgaggcgctacggctgcggctgcaggcggaggaggtggcgcagcagaagagcctggcgcaggccgaggctgagaagcagaaggaggaggcggagcgcgaggcgcggcggcgcggcaaggcggaggagcaggccgtccggcagcgggagctggctgaacaagagctggagaagcagcggcagctggcggaaggcaccgcgcagcagcgcctggccgcggagcaggagttgatccggctgcgggccgagacggagcagggggagcagcagcggcagctgctggaggaggagctggcccggctgcagcgtgaggcggctgcagccacgcagaaacggcaggagctggaagccgagctggccaaggtgcgggccgagatggaggtgctgctggccagcaaggcgagggctgaggaggagtcgcgctccaccagcgagaagtccaagcagaggctggaggccgaggccggccggttccgcgagctggccgaggaggccgcccgcctgcgtgccctggcggaagaggccaagcggcagcggcagctggccgaggaagacgcggcgcggcagcgggccgaggcggagcgggtgcttgcggagaagctggccgccatcggcgaggccacgcggctcaagacggaggcggagatcgcgctcaaggagaaggaggcggagaacgagcgcctgcggcggctggcggaggacgaggccttccagcggcggcggctggaggagcaggccgcgcaacacaaggctgacatcgaggagcgcctggcccagctgcgcaaggcatcggacagcgagctggagcggcagaaggggctggtggaggacacgctgaggcagcggcggcaggtggaggaggagatcctggcgctgaaggcgagcttcgagaaggcggccgctggcaaggcggagctggagctggagctgggacgcatccgcagcaacgcggaggacacgctgcgcagcaaggagcaggccgagctggaggctgcgaggcagcggcagctggcggcggaggaggagcggcggcgccgtgaggctgaggagcgcgtgcagaagagcctggcggccgaggaggaggccgcacggcagcggaaggcggcgctggaggaagtcgagcggctgaaagccaaggtggaggaggcgcggcgcctgcgggagcgagcggagcaggagtcggcgcggcagctgcagctggcccaggaggccgcccagaagcggctgcaggcggaagagaaggcacacgccttcgcggtgcagcagaaggagcaggagctacagcagacgctgcagcaggagcagagcgtgctggaccagctgcgcggcgaggcggaggcggcccggcgggcggctgaggaggcggaggaggcccgggtgcaggcggagcgtgaggcggcgcagtcccggcggcaggtggaagaggccgagcggctgaagcagtcggcagaggagcaggcacaggcccgggctcaggcacaggcggctgcagagaagctgcgcaaggaggccgagcaagaggcggcgcggcgggcacaggcggagcaggcggccctgcggcagaagcaggcagctgacgcggagatggagaagcataagaaattcgccgagcagacgctgcggcagaaggcgcaggtggagcaggagctgacaacactgcggctgcagctggaggagaccgaccaccagaagaacctgctggacgaggagctgcagcggctgaaggcggaggccacggaggccgcacgccagcgcagccaggtggaggaggagctcttctcggtgcgcgtgcagatggaggagctgagcaagctcaaggcacgcatcgaggctgagaaccgcgcactcatcttgcgtgacaaggacaatacgcagcgcttcctgcaggaggaggctgagaagatgaagcaggtggcggaggaggccgcgcggctgagtgtggcggcccaagaggctgcgcgactgcggcagctggcagaggaggacctggcacagcagcgggccttggcagagaagatgctcaaggagaagatgcaggcggtgcaggaggccacgcgactcaaggctgaggcggaactgctgcagcagcagaaggagcttgcgcaggagcaggcgcggcggctgcaggaggacaaggagcagatggcgcagcagctggcggaggagacgcagggcttccagcggacgctggaggccgagcggcagcggcagctggagatgagcgctgaggctgagcgcctcaagctgcgtgtggccgagatgagccgagcccaggcccgcgctgaggaggacgcccagcgcttccggaagcaggcggaggagatcggtgagaagctgcaccgcacggagctcgccacccaggagaaggtgaccctggtgcagacactggagatccagcgacagcagagtgaccatgatgccgagcgcctgcgggaggccatcgctgagctggagcgtgagaaggagaagctccaacaggaggccaaactgctgcagctcaagtctgaggagatgcagacggtgcagcaggagcagctgctgcaggagacgcaggccctgcagcaaagcttcctctctgaaaaggacagcctgctacagcgggagcgcttcatcgagcaggagaaggccaagctggagcagctcttccaggacgaggtggccaaggcacagcagctgcgtgaggagcagcagcggcagcagcagcagatggagcaggaacggcagcggctggtggccagcatggaggaggcgcggcggcggcagcatgaggccgaggagggcgtgcggcgcaagcaggaggagctgcagcagctggagcagcagcggcggcagcaggaggagctgctggctgaggagaaccagaggctgcgtgagcagctgcagctcctggaggagcagcaccgggccgcgctggcgcactcagaggaggtcactgcctcgcaggtggctgccacaaagaccctgcccaatggccgggatgcacttgatggccccgcggcagaggcagagccggagcacagcttcgatggcctgcggcggaaggtgtcagctcagaggctgcaggaggccggcatcctgagtgcggaggagctgcagcggttggcgcagggccacaccacggtggacgagctcgcacggcgggaagacgtgcgccactacctgcagggccgcagcagtatcgcagggctgttgctgaaggccaccaatgagaagctgagtgtttacgccgccctgcagaggcagctgctgagtcccggcacggccctcatcctgctggaggcgcaggcggcctcaggcttcctgctggaccctgtgcggaaccggcggctgaccgtcaacgaggctgtgaaggagggtgtggtgggccccgagctgcaccacaagctgctgtcggccgagcgcgccgtcactggctacaaggacccctacactggccagcagatctctctcttccaagccatgcagaagggcctcatcgtccgggagcacggcatccgcctgctggaggcccagatcgccacgggcggcgttatcgaccccgtgcacagccaccgcgtgcccgtggacgtggcctaccggcgcggctacttcgacgaggagatgaaccgcgtcctggcggaccccagcgacgacaccaagggcttctttgaccccaacacgcacgagaacctcacgtacctgcagctactggagcgctgcgtggaggaccccgagacgggcctgtgccttctgccactcacggataaggctgccaagggcggggagctggtctacactgactccgaggcccgggacgtctttgagaaggccaccgtgtctgcgccgttcggcaagttccagggcaagacggtgaccatttgggagatcatcaactcggaatacttcacggcagagcagcggcgggacctgctgcggcagttccgcacgggccggatcacagtggagaagatcatcaagatcatcatcacggtggtggaggagcaggagcagaagggccggctttgctttgagggcctgcgcagcctggtgccagccgccgagctgctggagagcagggtcatcgaccgcgagctctaccagcagctgcagcgaggtgagcgctctgtgcgagacgtagccgaggtggacactgtgcggcgggctctccggggtgccaacgtcatcgcgggtgtatggctggaggaggcggggcagaagctgagtatctacaatgccctgaagaaagacctgctgccatccgacatggccgtggccctgttggaagcccaggccggcaccgggcacatcatcgaccccgccaccagcgcccggctgaccgtggacgaggcagtgcgtgctggcctggtgggccccgagtttcatgagaagctgctatcagccgagaaggctgtgacagggtacagggacccctacacagggcagagcgtctccctgttccaggccctgaagaagggcctcattccccgggagcagggcctgcgcctgttggacgcccagctgtccacgggcggcatcgtggaccccagcaagagccaccgcgtgcccctggatgtcgcctgcgcccgaggctgcctggatgaggagaccagcagggccctgtcggcaccaagggccgacgccaaggcctacagtgaccccagcacaggggagccggccacctacggcgagctccagcagcggtgccggcccgaccagctgaccgggctgagcctgctgccgctctcagaaaaggctgctcgggcccggcaggaggagctctactcagagctgcaggcccgtgagacctttgaaaagaccccggttgaggtccccgtgggtggcttcaagggcaggacggtgacggtgtgggagctcatcagctctgagtacttcactgcggagcagcggcaggagctgttgcgtcagttccgcacgggcaaggtcaccgtggagaaggtcatcaagattctcattacc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//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:5339 -> Molecular function: GO:0003779 [actin binding] evidence: IEA
GeneID:5339 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:5339 -> Molecular function: GO:0008307 [structural constituent of muscle] evidence: IMP
GeneID:5339 -> Molecular function: GO:0008307 [structural constituent of muscle] evidence: TAS
GeneID:5339 -> Molecular function: GO:0030506 [ankyrin binding] evidence: IPI
GeneID:5339 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:5339 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
GeneID:5339 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
GeneID:5339 -> Biological process: GO:0031581 [hemidesmosome assembly] evidence: IDA
GeneID:5339 -> Biological process: GO:0031581 [hemidesmosome assembly] evidence: TAS
GeneID:5339 -> Biological process: GO:0034329 [cell junction assembly] evidence: TAS
GeneID:5339 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:5339 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:5339 -> Cellular component: GO:0005886 [plasma membrane] evidence: NAS
GeneID:5339 -> Cellular component: GO:0005925 [focal adhesion] evidence: IDA
GeneID:5339 -> Cellular component: GO:0016528 [sarcoplasm] evidence: ISS
GeneID:5339 -> Cellular component: GO:0030056 [hemidesmosome] evidence: IDA
GeneID:5339 -> Cellular component: GO:0042383 [sarcolemma] evidence: IDA
GeneID:5339 -> Cellular component: GO:0043034 [costamere] evidence: TAS
GeneID:5339 -> Cellular component: GO:0045111 [intermediate filament cytoskeleton] evidence: IDA
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