KCTD7_HUMAN
ID KCTD7_HUMAN Reviewed; 289 AA.
AC Q96MP8; A4D2M4; Q8IVR0;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=BTB/POZ domain-containing protein KCTD7;
GN Name=KCTD7;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [3]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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 INVOLVEMENT IN EPM3.
RX PubMed=17455289; DOI=10.1002/ana.21121;
RA Van Bogaert P., Azizieh R., Desir J., Aeby A., De Meirleir L., Laes J.-F.,
RA Christiaens F., Abramowicz M.J.;
RT "Mutation of a potassium channel-related gene in progressive myoclonic
RT epilepsy.";
RL Ann. Neurol. 61:579-586(2007).
RN [6]
RP SUBCELLULAR LOCATION, INTERACTION WITH CUL3, VARIANT EPM3 CYS-184, AND
RP CHARACTERIZATION OF VARIANT EPM3 CYS-184.
RX PubMed=22748208; DOI=10.1016/j.ajhg.2012.05.023;
RA Staropoli J.F., Karaa A., Lim E.T., Kirby A., Elbalalesy N., Romansky S.G.,
RA Leydiker K.B., Coppel S.H., Barone R., Xin W., MacDonald M.E.,
RA Abdenur J.E., Daly M.J., Sims K.B., Cotman S.L.;
RT "A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the
RT ubiquitin-proteasome system.";
RL Am. J. Hum. Genet. 91:202-208(2012).
RN [7]
RP SUBCELLULAR LOCATION, AND VARIANTS EPM3 TRP-94; MET-108; TYR-115 AND
RP ILE-273.
RX PubMed=22693283; DOI=10.1136/jmedgenet-2012-100859;
RA Kousi M., Anttila V., Schulz A., Calafato S., Jakkula E., Riesch E.,
RA Myllykangas L., Kalimo H., Topcu M., Gokben S., Alehan F., Lemke J.R.,
RA Alber M., Palotie A., Kopra O., Lehesjoki A.E.;
RT "Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy
RT gene.";
RL J. Med. Genet. 49:391-399(2012).
RN [8]
RP INVOLVEMENT IN OPSOCLONUS-MYOCLONUS ATAXIA-LIKE SYNDROME, AND VARIANT
RP TRP-84.
RX PubMed=22638565; DOI=10.1007/s00415-012-6545-z;
RA Blumkin L., Kivity S., Lev D., Cohen S., Shomrat R., Lerman-Sagie T.,
RA Leshinsky-Silver E.;
RT "A compound heterozygous missense mutation and a large deletion in the
RT KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.";
RL J. Neurol. 259:2590-2598(2012).
RN [9]
RP VARIANT EPM3 TRP-94.
RX PubMed=22606975; DOI=10.1111/j.1469-1809.2012.00710.x;
RA Krabichler B., Rostasy K., Baumann M., Karall D., Scholl-Burgi S.,
RA Schwarzer C., Gautsch K., Spreiz A., Kotzot D., Zschocke J., Fauth C.,
RA Haberlandt E.;
RT "Novel mutation in potassium channel related gene KCTD7 and progressive
RT myoclonic epilepsy.";
RL Ann. Hum. Genet. 76:326-331(2012).
RN [10]
RP VARIANT EPM3 MET-108.
RX PubMed=22612257; DOI=10.1111/j.1528-1167.2012.03516.x;
RA Lemke J.R., Riesch E., Scheurenbrand T., Schubach M., Wilhelm C.,
RA Steiner I., Hansen J., Courage C., Gallati S., Buerki S., Strozzi S.,
RA Simonetti B.G., Grunt S., Steinlin M., Alber M., Wolff M., Klopstock T.,
RA Prott E.C., Lorenz R., Spaich C., Rona S., Lakshminarasimhan M., Kroell J.,
RA Dorn T., Kraemer G., Synofzik M., Becker F., Weber Y.G., Lerche H.,
RA Boehm D., Biskup S.;
RT "Targeted next generation sequencing as a diagnostic tool in epileptic
RT disorders.";
RL Epilepsia 53:1387-1398(2012).
CC -!- FUNCTION: May be involved in the control of excitability of cortical
CC neurons. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with CUL3. {ECO:0000269|PubMed:22748208}.
CC -!- INTERACTION:
CC Q96MP8-2; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-11954971, EBI-10173507;
CC Q96MP8-2; O95429: BAG4; NbExp=3; IntAct=EBI-11954971, EBI-2949658;
CC Q96MP8-2; Q13618: CUL3; NbExp=3; IntAct=EBI-11954971, EBI-456129;
CC Q96MP8-2; Q92997: DVL3; NbExp=3; IntAct=EBI-11954971, EBI-739789;
CC Q96MP8-2; Q5JST6: EFHC2; NbExp=3; IntAct=EBI-11954971, EBI-2349927;
CC Q96MP8-2; Q8NHY3: GAS2L2; NbExp=3; IntAct=EBI-11954971, EBI-7960826;
CC Q96MP8-2; Q9H8Y8: GORASP2; NbExp=5; IntAct=EBI-11954971, EBI-739467;
CC Q96MP8-2; Q0VD86: INCA1; NbExp=3; IntAct=EBI-11954971, EBI-6509505;
CC Q96MP8-2; Q9C086: INO80B; NbExp=3; IntAct=EBI-11954971, EBI-715611;
CC Q96MP8-2; Q92993: KAT5; NbExp=3; IntAct=EBI-11954971, EBI-399080;
CC Q96MP8-2; Q96MP8-2: KCTD7; NbExp=5; IntAct=EBI-11954971, EBI-11954971;
CC Q96MP8-2; O95678: KRT75; NbExp=3; IntAct=EBI-11954971, EBI-2949715;
CC Q96MP8-2; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-11954971, EBI-10241252;
CC Q96MP8-2; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-11954971, EBI-739832;
CC Q96MP8-2; Q99750: MDFI; NbExp=3; IntAct=EBI-11954971, EBI-724076;
CC Q96MP8-2; P50221: MEOX1; NbExp=3; IntAct=EBI-11954971, EBI-2864512;
CC Q96MP8-2; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11954971, EBI-16439278;
CC Q96MP8-2; Q9GZT8: NIF3L1; NbExp=3; IntAct=EBI-11954971, EBI-740897;
CC Q96MP8-2; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-11954971, EBI-741158;
CC Q96MP8-2; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-11954971, EBI-398874;
CC Q96MP8-2; Q9HBI0: PARVG; NbExp=3; IntAct=EBI-11954971, EBI-3921217;
CC Q96MP8-2; P26367: PAX6; NbExp=3; IntAct=EBI-11954971, EBI-747278;
CC Q96MP8-2; Q13526: PIN1; NbExp=3; IntAct=EBI-11954971, EBI-714158;
CC Q96MP8-2; Q99633: PRPF18; NbExp=3; IntAct=EBI-11954971, EBI-2798416;
CC Q96MP8-2; P25786: PSMA1; NbExp=3; IntAct=EBI-11954971, EBI-359352;
CC Q96MP8-2; P20338: RAB4A; NbExp=3; IntAct=EBI-11954971, EBI-722284;
CC Q96MP8-2; Q04864-2: REL; NbExp=3; IntAct=EBI-11954971, EBI-10829018;
CC Q96MP8-2; Q15560: TCEA2; NbExp=3; IntAct=EBI-11954971, EBI-710310;
CC Q96MP8-2; Q8N8B7-2: TCEANC; NbExp=3; IntAct=EBI-11954971, EBI-11955057;
CC Q96MP8-2; P54274-2: TERF1; NbExp=7; IntAct=EBI-11954971, EBI-711018;
CC Q96MP8-2; Q9C040: TRIM2; NbExp=3; IntAct=EBI-11954971, EBI-749840;
CC Q96MP8-2; O75382: TRIM3; NbExp=3; IntAct=EBI-11954971, EBI-2129889;
CC Q96MP8-2; Q14119: VEZF1; NbExp=3; IntAct=EBI-11954971, EBI-11980193;
CC Q96MP8-2; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-11954971, EBI-740727;
CC Q96MP8-2; Q7Z4V0: ZNF438; NbExp=3; IntAct=EBI-11954971, EBI-11962468;
CC Q96MP8-2; Q6S9Z5: ZNF474; NbExp=3; IntAct=EBI-11954971, EBI-17269964;
CC Q96MP8-2; Q9H707: ZNF552; NbExp=3; IntAct=EBI-11954971, EBI-2555731;
CC Q96MP8-2; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-11954971, EBI-6427977;
CC -!- SUBCELLULAR LOCATION: Cell membrane. Cytoplasm, cytosol.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96MP8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96MP8-2; Sequence=VSP_020760;
CC -!- DISEASE: Epilepsy, progressive myoclonic 3, with or without
CC intracellular inclusions (EPM3) [MIM:611726]: A form of progressive
CC myoclonic epilepsy, a clinically and genetically heterogeneous group of
CC disorders defined by the combination of action and reflex myoclonus,
CC other types of epileptic seizures, and progressive neurodegeneration
CC and neurocognitive impairment. EPM3 is an autosomal recessive, severe,
CC form with early onset. Multifocal myoclonic seizures begin between 16
CC and 24 months of age after normal initial development.
CC Neurodegeneration and regression occur with seizure onset. Other
CC features include intellectual disability, dysarthria, truncal ataxia,
CC and loss of fine finger movements. EEG shows slow dysrhythmia,
CC multifocal and occasionally generalized epileptiform discharges. In
CC some patients, ultrastructural findings on skin biopsies identify
CC intracellular accumulation of autofluorescent lipopigment storage
CC material, consistent with neuronal ceroid lipofuscinosis.
CC {ECO:0000269|PubMed:17455289, ECO:0000269|PubMed:22606975,
CC ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:22693283,
CC ECO:0000269|PubMed:22748208}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Note=Defects in KCTD7 are a cause of opsoclonus-myoclonus
CC ataxia-like syndrome. Opsoclonus myoclonus ataxia syndrome (OMS) is a
CC rare pervasive and frequently permanent disorder that usually develops
CC in previously healthy children with normal premorbid psychomotor
CC development and characterized by association of abnormal eye movements
CC (opsoclonus), severe dyskinesia (myoclonus), cerebellar ataxia,
CC functional regression, and behavioral problems. The syndrome is
CC considered to be an immune-mediated disorder and may be tumor-
CC associated or idiopathic. OMS is one of a few steroid responsive
CC disorders of childhood. KCTD7 mutations have been found in a patient
CC with an atypical clinical presentation characterized by non-epileptic
CC myoclonus and ataxia commencing in early infancy, abnormal opsoclonus-
CC like eye movements, improvement of clinical symptoms under steroid
CC treatment, and subsequent development of generalized epilepsy
CC (PubMed:22638565). {ECO:0000269|PubMed:22638565}.
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DR EMBL; AK056631; BAB71236.1; -; mRNA.
DR EMBL; CH236961; EAL23735.1; -; Genomic_DNA.
DR EMBL; CH471140; EAX07919.1; -; Genomic_DNA.
DR EMBL; BC042482; AAH42482.1; -; mRNA.
DR CCDS; CCDS55117.1; -. [Q96MP8-2]
DR CCDS; CCDS5534.1; -. [Q96MP8-1]
DR RefSeq; NP_001161433.1; NM_001167961.2. [Q96MP8-2]
DR RefSeq; NP_694578.1; NM_153033.4. [Q96MP8-1]
DR AlphaFoldDB; Q96MP8; -.
DR SMR; Q96MP8; -.
DR BioGRID; 127564; 53.
DR IntAct; Q96MP8; 38.
DR STRING; 9606.ENSP00000275532; -.
DR iPTMnet; Q96MP8; -.
DR PhosphoSitePlus; Q96MP8; -.
DR BioMuta; KCTD7; -.
DR DMDM; 74732414; -.
DR jPOST; Q96MP8; -.
DR MassIVE; Q96MP8; -.
DR MaxQB; Q96MP8; -.
DR PeptideAtlas; Q96MP8; -.
DR PRIDE; Q96MP8; -.
DR ProteomicsDB; 77385; -. [Q96MP8-1]
DR ProteomicsDB; 77386; -. [Q96MP8-2]
DR Antibodypedia; 34857; 127 antibodies from 20 providers.
DR DNASU; 154881; -.
DR Ensembl; ENST00000443322.1; ENSP00000411624.1; ENSG00000243335.10. [Q96MP8-2]
DR Ensembl; ENST00000639828.2; ENSP00000492240.1; ENSG00000243335.10. [Q96MP8-1]
DR GeneID; 154881; -.
DR KEGG; hsa:154881; -.
DR MANE-Select; ENST00000639828.2; ENSP00000492240.1; NM_153033.5; NP_694578.1.
DR UCSC; uc003tvd.5; human. [Q96MP8-1]
DR CTD; 154881; -.
DR DisGeNET; 154881; -.
DR GeneCards; KCTD7; -.
DR HGNC; HGNC:21957; KCTD7.
DR HPA; ENSG00000243335; Tissue enhanced (retina).
DR MalaCards; KCTD7; -.
DR MIM; 611725; gene.
DR MIM; 611726; phenotype.
DR neXtProt; NX_Q96MP8; -.
DR OpenTargets; ENSG00000243335; -.
DR Orphanet; 263516; Progressive myoclonic epilepsy type 3.
DR PharmGKB; PA134884591; -.
DR VEuPathDB; HostDB:ENSG00000243335; -.
DR eggNOG; KOG2723; Eukaryota.
DR GeneTree; ENSGT00940000161327; -.
DR HOGENOM; CLU_070345_1_0_1; -.
DR InParanoid; Q96MP8; -.
DR OMA; PFQFPEV; -.
DR PathwayCommons; Q96MP8; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR Reactome; R-HSA-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR SignaLink; Q96MP8; -.
DR BioGRID-ORCS; 154881; 11 hits in 1077 CRISPR screens.
DR ChiTaRS; KCTD7; human.
DR GeneWiki; KCTD7; -.
DR GenomeRNAi; 154881; -.
DR Pharos; Q96MP8; Tbio.
DR PRO; PR:Q96MP8; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q96MP8; protein.
DR Bgee; ENSG00000243335; Expressed in cortical plate and 176 other tissues.
DR ExpressionAtlas; Q96MP8; baseline and differential.
DR Genevisible; Q96MP8; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0030007; P:cellular potassium ion homeostasis; IEA:Ensembl.
DR GO; GO:0090461; P:glutamate homeostasis; IMP:UniProtKB.
DR GO; GO:0060081; P:membrane hyperpolarization; IBA:GO_Central.
DR GO; GO:0032411; P:positive regulation of transporter activity; IBA:GO_Central.
DR GO; GO:0051260; P:protein homooligomerization; IEA:InterPro.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR InterPro; IPR003131; T1-type_BTB.
DR Pfam; PF02214; BTB_2; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cytoplasm; Disease variant; Epilepsy;
KW Membrane; Neurodegeneration; Neuronal ceroid lipofuscinosis;
KW Reference proteome.
FT CHAIN 1..289
FT /note="BTB/POZ domain-containing protein KCTD7"
FT /id="PRO_0000251476"
FT DOMAIN 51..149
FT /note="BTB"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 289
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020760"
FT VARIANT 84
FT /note="R -> W (probable disease-associated variant found in
FT a patient with opsoclonus-myoclonus ataxia-like syndrome;
FT dbSNP:rs754476100)"
FT /evidence="ECO:0000269|PubMed:22638565"
FT /id="VAR_068775"
FT VARIANT 94
FT /note="R -> W (in EPM3; dbSNP:rs387907260)"
FT /evidence="ECO:0000269|PubMed:22606975,
FT ECO:0000269|PubMed:22693283"
FT /id="VAR_068776"
FT VARIANT 108
FT /note="L -> M (in EPM3; dbSNP:rs387907263)"
FT /evidence="ECO:0000269|PubMed:22612257,
FT ECO:0000269|PubMed:22693283"
FT /id="VAR_068777"
FT VARIANT 115
FT /note="D -> Y (in EPM3; uncertain pathological
FT significance; dbSNP:rs387907262)"
FT /evidence="ECO:0000269|PubMed:22693283"
FT /id="VAR_068778"
FT VARIANT 184
FT /note="R -> C (in EPM3; results in markedly diminished
FT localization at the cell membrane and appearance of
FT prominent cytoplasmic aggregates; dbSNP:rs387907246)"
FT /evidence="ECO:0000269|PubMed:22748208"
FT /id="VAR_068779"
FT VARIANT 273
FT /note="N -> I (in EPM3; dbSNP:rs387907261)"
FT /evidence="ECO:0000269|PubMed:22693283"
FT /id="VAR_068780"
SQ SEQUENCE 289 AA; 33132 MW; 1F0D1F618CD5E459 CRC64;
MVVVTGREPD SRRQDGAMSS SDAEDDFLEP ATPTATQAGH ALPLLPQEFP EVVPLNIGGA
HFTTRLSTLR CYEDTMLAAM FSGRHYIPTD SEGRYFIDRD GTHFGDVLNF LRSGDLPPRE
RVRAVYKEAQ YYAIGPLLEQ LENMQPLKGE KVRQAFLGLM PYYKDHLERI VEIARLRAVQ
RKARFAKLKV CVFKEEMPIT PYECPLLNSL RFERSESDGQ LFEHHCEVDV SFGPWEAVAD
VYDLLHCLVT DLSAQGLTVD HQCIGVCDKH LVNHYYCKRP IYEFKITWW
