TELT_HUMAN
ID TELT_HUMAN Reviewed; 167 AA.
AC O15273; Q96L27;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1998, sequence version 1.
DT 03-AUG-2022, entry version 185.
DE RecName: Full=Telethonin;
DE AltName: Full=Titin cap protein;
GN Name=TCAP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Skeletal muscle;
RX PubMed=9350988; DOI=10.1016/s0014-5793(97)01108-3;
RA Valle G., Faulkner G., de Antoni A., Pacchioni B., Pallavicini A.,
RA Pandolfo D., Tiso N., Toppo S., Trevisan S., Lanfranchi G.;
RT "Telethonin, a novel sarcomeric protein of heart and skeletal muscle.";
RL FEBS Lett. 415:163-168(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Pallavicini A., Valle G., Lanfranchi G.;
RT "Human telethonin genomic sequence.";
RL Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Mues A., Gautel M.;
RT "Structure of the human telethonin gene.";
RL Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT HIS-74.
RC TISSUE=Prostate;
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 INTERACTION WITH TTN.
RX PubMed=9645487; DOI=10.1016/s0014-5793(98)00501-8;
RA Mues A., van der Ven P.F.M., Young P., Furst D.O., Gautel M.;
RT "Two immunoglobulin-like domains of the Z-disc portion of titin interact in
RT a conformation-dependent way with telethonin.";
RL FEBS Lett. 428:111-114(1998).
RN [6]
RP INTERACTION WITH MYOZ1.
RX PubMed=10984498; DOI=10.1074/jbc.m007493200;
RA Faulkner G., Pallavicini A., Comelli A., Salamon M., Bortoletto G.,
RA Ievolella C., Trevisan S., Kojic' S., Dalla Vecchia F., Laveder P.,
RA Valle G., Lanfranchi G.;
RT "FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc
RT of skeletal muscle.";
RL J. Biol. Chem. 275:41234-41242(2000).
RN [7]
RP INTERACTION WITH MYOZ3.
RX PubMed=11842093; DOI=10.1074/jbc.m200712200;
RA Frey N., Olson E.N.;
RT "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin
RT family, interacts with multiple Z-disc proteins.";
RL J. Biol. Chem. 277:13998-14004(2002).
RN [8]
RP INTERACTION WITH ANKRD2.
RX PubMed=15136035; DOI=10.1016/j.jmb.2004.03.071;
RA Kojic S., Medeot E., Guccione E., Krmac H., Zara I., Martinelli V.,
RA Valle G., Faulkner G.;
RT "The Ankrd2 protein, a link between the sarcomere and the nucleus in
RT skeletal muscle.";
RL J. Mol. Biol. 339:313-325(2004).
RN [9]
RP INTERACTION WITH CSRP3.
RX PubMed=24860983; DOI=10.1111/febs.12859;
RA Vafiadaki E., Arvanitis D.A., Papalouka V., Terzis G., Roumeliotis T.I.,
RA Spengos K., Garbis S.D., Manta P., Kranias E.G., Sanoudou D.;
RT "Muscle lim protein isoform negatively regulates striated muscle actin
RT dynamics and differentiation.";
RL FEBS J. 281:3261-3279(2014).
RN [10]
RP X-RAY CRYSTALLOGRAPHY (2.44 ANGSTROMS) OF 1-90 IN COMPLEX WITH TTN.
RX PubMed=16407954; DOI=10.1038/nature04343;
RA Zou P., Pinotsis N., Lange S., Song Y.-H., Popov A., Mavridis I.,
RA Mayans O.M., Gautel M., Wilmanns M.;
RT "Palindromic assembly of the giant muscle protein titin in the sarcomeric
RT Z-disk.";
RL Nature 439:229-233(2006).
RN [11]
RP X-RAY CRYSTALLOGRAPHY (2.75 ANGSTROMS) IN COMPLEX WITH TTN, AND SUBCELLULAR
RP LOCATION.
RX PubMed=16713295; DOI=10.1016/j.jsb.2006.03.028;
RA Pinotsis N., Petoukhov M., Lange S., Svergun D., Zou P., Gautel M.,
RA Wilmanns M.;
RT "Evidence for a dimeric assembly of two titin/telethonin complexes induced
RT by the telethonin C-terminus.";
RL J. Struct. Biol. 155:239-250(2006).
RN [12]
RP INVOLVEMENT IN LGMDR7.
RX PubMed=10655062; DOI=10.1038/72822;
RA Moreira E.S., Wiltshire T.J., Faulkner G., Nilforoushan A., Vainzof M.,
RA Suzuki O.T., Valle G., Reeves R., Zatz M., Passos-Bueno M.R., Jenne D.E.;
RT "Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene
RT encoding the sarcomeric protein telethonin.";
RL Nat. Genet. 24:163-166(2000).
RN [13]
RP VARIANT GLN-87.
RX PubMed=12507422; DOI=10.1016/s0092-8674(02)01226-6;
RA Knoell R., Hoshijima M., Hoffman H.M., Person V., Lorenzen-Schmidt I.,
RA Bang M.-L., Hayashi T., Shiga N., Yasukawa H., Schaper W., McKenna W.,
RA Yokoyama M., Schork N.J., Omens J.H., McCulloch A.D., Kimura A.,
RA Gregorio C.C., Poller W., Schaper J., Schultheiss H.P., Chien K.R.;
RT "The cardiac mechanical stretch sensor machinery involves a Z disc complex
RT that is defective in a subset of human dilated cardiomyopathy.";
RL Cell 111:943-955(2002).
RN [14]
RP VARIANTS CMH25 TRP-70 AND LEU-90, AND VARIANT GLU-13 DEL.
RX PubMed=16352453; DOI=10.1016/j.ymgme.2005.10.008;
RA Bos J.M., Poley R.N., Ny M., Tester D.J., Xu X., Vatta M., Towbin J.A.,
RA Gersh B.J., Ommen S.R., Ackerman M.J.;
RT "Genotype-phenotype relationships involving hypertrophic cardiomyopathy-
RT associated mutations in titin, muscle LIM protein, and telethonin.";
RL Mol. Genet. Metab. 88:78-85(2006).
RN [15]
RP VARIANT GLU-13 DEL.
RX PubMed=16490376; DOI=10.1016/j.ymgme.2006.01.004;
RA Perrot A., Posch M.G., Osterziel K.J.;
RT "Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein
RT titin-cap/telethonin is a rare non-synonymous polymorphism.";
RL Mol. Genet. Metab. 88:199-200(2006).
RN [16]
RP VARIANT GLU-13 DEL.
RX PubMed=16650785; DOI=10.1016/j.ymgme.2006.03.012;
RA Marziliano N., Pilotto A., Grasso M., Pasotti M., Arbustini E.;
RT "Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-
RT telethonin is a rare polymorphism in a large Italian population.";
RL Mol. Genet. Metab. 89:286-287(2006).
RN [17]
RP VARIANTS CMH25 ILE-137 AND HIS-153, VARIANT GLN-132, CHARACTERIZATION OF
RP VARIANTS CMH25 ILE-137 AND HIS-153, CHARACTERIZATION OF VARIANT GLN-132,
RP AND INTERACTION WITH CSRP3; MYOZ2 AND TTN.
RX PubMed=15582318; DOI=10.1016/j.jacc.2004.08.058;
RA Hayashi T., Arimura T., Itoh-Satoh M., Ueda K., Hohda S., Inagaki N.,
RA Takahashi M., Hori H., Yasunami M., Nishi H., Koga Y., Nakamura H.,
RA Matsuzaki M., Choi B.Y., Bae S.W., You C.W., Han K.H., Park J.E.,
RA Knoell R., Hoshijima M., Chien K.R., Kimura A.;
RT "Tcap gene mutations in hypertrophic cardiomyopathy and dilated
RT cardiomyopathy.";
RL J. Am. Coll. Cardiol. 44:2192-2201(2004).
CC -!- FUNCTION: Muscle assembly regulating factor. Mediates the antiparallel
CC assembly of titin (TTN) molecules at the sarcomeric Z-disk.
CC -!- SUBUNIT: Interacts with MYOZ1, MYOZ2 and MYOZ3. Interacts with CSRP3.
CC Interacts directly with the N-terminal Ig-like domains of 2 titin (TTN)
CC molecules. Interacts with ANKRD2; the interaction is direct.
CC {ECO:0000269|PubMed:10984498, ECO:0000269|PubMed:11842093,
CC ECO:0000269|PubMed:15136035, ECO:0000269|PubMed:15582318,
CC ECO:0000269|PubMed:16407954, ECO:0000269|PubMed:16713295,
CC ECO:0000269|PubMed:9645487}.
CC -!- INTERACTION:
CC O15273; Q9NWX5: ASB6; NbExp=3; IntAct=EBI-954089, EBI-6425205;
CC O15273; Q86V38: ATN1; NbExp=3; IntAct=EBI-954089, EBI-11954292;
CC O15273; P54253: ATXN1; NbExp=8; IntAct=EBI-954089, EBI-930964;
CC O15273; Q9H2G9: BLZF1; NbExp=3; IntAct=EBI-954089, EBI-2548012;
CC O15273; Q5BKX5-3: C19orf54; NbExp=3; IntAct=EBI-954089, EBI-11976299;
CC O15273; P55212: CASP6; NbExp=3; IntAct=EBI-954089, EBI-718729;
CC O15273; P45973: CBX5; NbExp=4; IntAct=EBI-954089, EBI-78219;
CC O15273; Q9BXL8: CDCA4; NbExp=3; IntAct=EBI-954089, EBI-1773949;
CC O15273; P28329-3: CHAT; NbExp=3; IntAct=EBI-954089, EBI-25837549;
CC O15273; P02489: CRYAA; NbExp=3; IntAct=EBI-954089, EBI-6875961;
CC O15273; P50461: CSRP3; NbExp=3; IntAct=EBI-954089, EBI-5658719;
CC O15273; O75190-2: DNAJB6; NbExp=3; IntAct=EBI-954089, EBI-12593112;
CC O15273; Q14204: DYNC1H1; NbExp=3; IntAct=EBI-954089, EBI-356015;
CC O15273; P00488: F13A1; NbExp=3; IntAct=EBI-954089, EBI-2565863;
CC O15273; P0C7A2-2: FAM153B; NbExp=3; IntAct=EBI-954089, EBI-12940382;
CC O15273; P22607: FGFR3; NbExp=3; IntAct=EBI-954089, EBI-348399;
CC O15273; P14136: GFAP; NbExp=3; IntAct=EBI-954089, EBI-744302;
CC O15273; O14908-2: GIPC1; NbExp=3; IntAct=EBI-954089, EBI-25913156;
CC O15273; Q14957: GRIN2C; NbExp=3; IntAct=EBI-954089, EBI-8285963;
CC O15273; P06396: GSN; NbExp=3; IntAct=EBI-954089, EBI-351506;
CC O15273; O00291: HIP1; NbExp=3; IntAct=EBI-954089, EBI-473886;
CC O15273; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-954089, EBI-747204;
CC O15273; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-954089, EBI-1055254;
CC O15273; O14901: KLF11; NbExp=3; IntAct=EBI-954089, EBI-948266;
CC O15273; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-954089, EBI-10241353;
CC O15273; P13473-2: LAMP2; NbExp=3; IntAct=EBI-954089, EBI-21591415;
CC O15273; A0A0C4DGV4: LAMTOR5; NbExp=3; IntAct=EBI-954089, EBI-10173304;
CC O15273; Q9NPC6: MYOZ2; NbExp=2; IntAct=EBI-954089, EBI-746712;
CC O15273; Q13153: PAK1; NbExp=3; IntAct=EBI-954089, EBI-1307;
CC O15273; P16284: PECAM1; NbExp=3; IntAct=EBI-954089, EBI-716404;
CC O15273; Q9H8W4: PLEKHF2; NbExp=3; IntAct=EBI-954089, EBI-742388;
CC O15273; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-954089, EBI-5280197;
CC O15273; P20339: RAB5A; NbExp=3; IntAct=EBI-954089, EBI-399437;
CC O15273; P62826: RAN; NbExp=3; IntAct=EBI-954089, EBI-286642;
CC O15273; Q5SSQ6-2: SAPCD1; NbExp=3; IntAct=EBI-954089, EBI-13072754;
CC O15273; Q12933: TRAF2; NbExp=3; IntAct=EBI-954089, EBI-355744;
CC O15273; Q6DKK2: TTC19; NbExp=4; IntAct=EBI-954089, EBI-948354;
CC O15273; Q8WZ42: TTN; NbExp=9; IntAct=EBI-954089, EBI-681210;
CC O15273; Q8WZ42-3: TTN; NbExp=2; IntAct=EBI-954089, EBI-15564183;
CC O15273; P61086: UBE2K; NbExp=3; IntAct=EBI-954089, EBI-473850;
CC O15273; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-954089, EBI-741480;
CC O15273; P08670: VIM; NbExp=3; IntAct=EBI-954089, EBI-353844;
CC O15273; Q9Y649; NbExp=3; IntAct=EBI-954089, EBI-25900580;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere
CC {ECO:0000269|PubMed:16713295}.
CC -!- TISSUE SPECIFICITY: Heart and skeletal muscle.
CC -!- DISEASE: Cardiomyopathy, familial hypertrophic 25 (CMH25) [MIM:607487]:
CC A hereditary heart disorder characterized by ventricular hypertrophy,
CC which is usually asymmetric and often involves the interventricular
CC septum. The symptoms include dyspnea, syncope, collapse, palpitations,
CC and chest pain. They can be readily provoked by exercise. The disorder
CC has inter- and intrafamilial variability ranging from benign to
CC malignant forms with high risk of cardiac failure and sudden cardiac
CC death. {ECO:0000269|PubMed:15582318, ECO:0000269|PubMed:16352453}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 7
CC (LGMDR7) [MIM:601954]: An autosomal recessive degenerative myopathy
CC characterized by proximal and distal muscle weakness and atrophy in the
CC limbs, dystrophic changes on muscle biopsy, and absence of telethonin.
CC Cardiac muscle is involved in a subset of patients.
CC {ECO:0000269|PubMed:10655062}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: The C-terminal domain appears to be unstructured in
CC solution. It may promote the assembly of higher-order TTN complexes.
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DR EMBL; AJ000491; CAA04129.1; -; mRNA.
DR EMBL; AJ010063; CAA08987.1; -; Genomic_DNA.
DR EMBL; AJ011098; CAA09479.1; -; Genomic_DNA.
DR EMBL; BC012628; AAH12628.1; -; mRNA.
DR EMBL; BC013330; AAH13330.1; -; mRNA.
DR CCDS; CCDS11342.1; -.
DR RefSeq; NP_003664.1; NM_003673.3.
DR PDB; 1YA5; X-ray; 2.44 A; T=1-90.
DR PDB; 2F8V; X-ray; 2.75 A; T/Y=1-167.
DR PDBsum; 1YA5; -.
DR PDBsum; 2F8V; -.
DR AlphaFoldDB; O15273; -.
DR SMR; O15273; -.
DR BioGRID; 114127; 51.
DR ComplexPortal; CPX-101; Titin-Telethonin complex.
DR CORUM; O15273; -.
DR DIP; DIP-35730N; -.
DR IntAct; O15273; 68.
DR MINT; O15273; -.
DR STRING; 9606.ENSP00000312624; -.
DR iPTMnet; O15273; -.
DR PhosphoSitePlus; O15273; -.
DR BioMuta; TCAP; -.
DR jPOST; O15273; -.
DR MassIVE; O15273; -.
DR PaxDb; O15273; -.
DR PeptideAtlas; O15273; -.
DR PRIDE; O15273; -.
DR ProteomicsDB; 48560; -.
DR Antibodypedia; 3888; 221 antibodies from 29 providers.
DR DNASU; 8557; -.
DR Ensembl; ENST00000309889.3; ENSP00000312624.2; ENSG00000173991.6.
DR GeneID; 8557; -.
DR KEGG; hsa:8557; -.
DR MANE-Select; ENST00000309889.3; ENSP00000312624.2; NM_003673.4; NP_003664.1.
DR UCSC; uc002hsh.4; human.
DR CTD; 8557; -.
DR DisGeNET; 8557; -.
DR GeneCards; TCAP; -.
DR GeneReviews; TCAP; -.
DR HGNC; HGNC:11610; TCAP.
DR HPA; ENSG00000173991; Group enriched (heart muscle, skeletal muscle, tongue).
DR MalaCards; TCAP; -.
DR MIM; 601954; phenotype.
DR MIM; 604488; gene.
DR MIM; 607487; phenotype.
DR neXtProt; NX_O15273; -.
DR OpenTargets; ENSG00000173991; -.
DR Orphanet; 154; Familial isolated dilated cardiomyopathy.
DR Orphanet; 155; NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy.
DR Orphanet; 34514; Telethonin-related limb-girdle muscular dystrophy R7.
DR PharmGKB; PA36370; -.
DR VEuPathDB; HostDB:ENSG00000173991; -.
DR eggNOG; ENOG502S21D; Eukaryota.
DR GeneTree; ENSGT00390000012014; -.
DR InParanoid; O15273; -.
DR OMA; PWLLMRM; -.
DR OrthoDB; 1270613at2759; -.
DR PhylomeDB; O15273; -.
DR TreeFam; TF333228; -.
DR PathwayCommons; O15273; -.
DR Reactome; R-HSA-390522; Striated Muscle Contraction.
DR SignaLink; O15273; -.
DR SIGNOR; O15273; -.
DR BioGRID-ORCS; 8557; 16 hits in 1072 CRISPR screens.
DR ChiTaRS; TCAP; human.
DR EvolutionaryTrace; O15273; -.
DR GeneWiki; Telethonin; -.
DR GenomeRNAi; 8557; -.
DR Pharos; O15273; Tbio.
DR PRO; PR:O15273; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; O15273; protein.
DR Bgee; ENSG00000173991; Expressed in apex of heart and 148 other tissues.
DR ExpressionAtlas; O15273; baseline and differential.
DR Genevisible; O15273; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0031674; C:I band; ISS:BHF-UCL.
DR GO; GO:1990733; C:titin-telethonin complex; IPI:ComplexPortal.
DR GO; GO:0030018; C:Z disc; IDA:BHF-UCL.
DR GO; GO:0036122; F:BMP binding; IPI:BHF-UCL.
DR GO; GO:0051373; F:FATZ binding; IPI:BHF-UCL.
DR GO; GO:0030674; F:protein-macromolecule adaptor activity; IDA:BHF-UCL.
DR GO; GO:0008307; F:structural constituent of muscle; IMP:BHF-UCL.
DR GO; GO:0031432; F:titin binding; IPI:BHF-UCL.
DR GO; GO:0070080; F:titin Z domain binding; IPI:BHF-UCL.
DR GO; GO:0044325; F:transmembrane transporter binding; IPI:BHF-UCL.
DR GO; GO:0007512; P:adult heart development; IMP:BHF-UCL.
DR GO; GO:0055013; P:cardiac muscle cell development; IMP:BHF-UCL.
DR GO; GO:0060048; P:cardiac muscle contraction; IMP:BHF-UCL.
DR GO; GO:0003300; P:cardiac muscle hypertrophy; IMP:BHF-UCL.
DR GO; GO:0014898; P:cardiac muscle hypertrophy in response to stress; IMP:BHF-UCL.
DR GO; GO:0055008; P:cardiac muscle tissue morphogenesis; IMP:BHF-UCL.
DR GO; GO:0055003; P:cardiac myofibril assembly; IMP:BHF-UCL.
DR GO; GO:0050982; P:detection of mechanical stimulus; TAS:BHF-UCL.
DR GO; GO:0035995; P:detection of muscle stretch; IMP:BHF-UCL.
DR GO; GO:0030916; P:otic vesicle formation; IEA:Ensembl.
DR GO; GO:0065003; P:protein-containing complex assembly; TAS:ProtInc.
DR GO; GO:0035994; P:response to muscle stretch; TAS:BHF-UCL.
DR GO; GO:0045214; P:sarcomere organization; IMP:BHF-UCL.
DR GO; GO:0048769; P:sarcomerogenesis; IMP:BHF-UCL.
DR GO; GO:0003009; P:skeletal muscle contraction; IEP:BHF-UCL.
DR GO; GO:0030241; P:skeletal muscle myosin thick filament assembly; IMP:BHF-UCL.
DR GO; GO:0030240; P:skeletal muscle thin filament assembly; IMP:BHF-UCL.
DR GO; GO:0001756; P:somitogenesis; IEA:Ensembl.
DR DisProt; DP00797; -.
DR Gene3D; 2.20.160.10; -; 1.
DR InterPro; IPR015667; Telethonin.
DR InterPro; IPR023111; Titin-like_dom_sf.
DR PANTHER; PTHR15143; PTHR15143; 1.
DR Pfam; PF09470; Telethonin; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cardiomyopathy; Cytoplasm; Disease variant;
KW Limb-girdle muscular dystrophy; Phosphoprotein; Reference proteome.
FT CHAIN 1..167
FT /note="Telethonin"
FT /id="PRO_0000072483"
FT REGION 144..167
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 39
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:O70548"
FT VARIANT 13
FT /note="Missing (in dbSNP:rs397516862)"
FT /evidence="ECO:0000269|PubMed:16352453,
FT ECO:0000269|PubMed:16490376, ECO:0000269|PubMed:16650785"
FT /id="VAR_026649"
FT VARIANT 70
FT /note="R -> W (in CMH25; dbSNP:rs775636212)"
FT /evidence="ECO:0000269|PubMed:16352453"
FT /id="VAR_026650"
FT VARIANT 74
FT /note="L -> H (in dbSNP:rs17851031)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_029445"
FT VARIANT 87
FT /note="R -> Q (found in a patient with dilated
FT cardiomyopathy; unknown pathological significance;
FT dbSNP:rs121434298)"
FT /evidence="ECO:0000269|PubMed:12507422"
FT /id="VAR_015397"
FT VARIANT 90
FT /note="P -> L (in CMH25; unknown pathological significance;
FT dbSNP:rs727504427)"
FT /evidence="ECO:0000269|PubMed:16352453"
FT /id="VAR_026651"
FT VARIANT 106
FT /note="R -> C (in dbSNP:rs45578741)"
FT /id="VAR_051421"
FT VARIANT 132
FT /note="E -> Q (probable disease-associated variant found in
FT a patient with dilated cardiomyopathy; impairs the
FT interaction with CSRP3, TTN and MYOZ2; dbSNP:rs748358368)"
FT /evidence="ECO:0000269|PubMed:15582318"
FT /id="VAR_029446"
FT VARIANT 137
FT /note="T -> I (in CMH25; increased interaction with TTN and
FT MYOZ2; dbSNP:rs773317399)"
FT /evidence="ECO:0000269|PubMed:15582318"
FT /id="VAR_029447"
FT VARIANT 153
FT /note="R -> H (in CMH25; dbSNP:rs149585781)"
FT /evidence="ECO:0000269|PubMed:15582318"
FT /id="VAR_029448"
FT STRAND 4..14
FT /evidence="ECO:0007829|PDB:1YA5"
FT TURN 15..18
FT /evidence="ECO:0007829|PDB:1YA5"
FT STRAND 19..33
FT /evidence="ECO:0007829|PDB:1YA5"
FT HELIX 35..37
FT /evidence="ECO:0007829|PDB:1YA5"
FT STRAND 38..44
FT /evidence="ECO:0007829|PDB:1YA5"
FT TURN 45..48
FT /evidence="ECO:0007829|PDB:1YA5"
FT STRAND 49..55
FT /evidence="ECO:0007829|PDB:1YA5"
FT STRAND 57..62
FT /evidence="ECO:0007829|PDB:1YA5"
FT STRAND 67..73
FT /evidence="ECO:0007829|PDB:1YA5"
FT STRAND 78..84
FT /evidence="ECO:0007829|PDB:1YA5"
SQ SEQUENCE 167 AA; 19052 MW; A3B0E27D8C84F6C5 CRC64;
MATSELSCEV SEENCERREA FWAEWKDLTL STRPEEGCSL HEEDTQRHET YHQQGQCQVL
VQRSPWLMMR MGILGRGLQE YQLPYQRVLP LPIFTPAKMG ATKEEREDTP IQLQELLALE
TALGGQCVDR QEVAEITKQL PPVVPVSKPG ALRRSLSRSM SQEAQRG
