CLN8_HUMAN
ID CLN8_HUMAN Reviewed; 286 AA.
AC Q9UBY8; Q86U71; Q96I95;
DT 02-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 17-APR-2007, sequence version 3.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Protein CLN8;
GN Name=CLN8; Synonyms=C8orf61;
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], VARIANT CLN8NE GLY-24, AND VARIANT VAL-155.
RX PubMed=10508524; DOI=10.1038/13868;
RA Ranta S., Zhang Y., Ross B., Lonka L., Takkunen E., Messer A., Sharp J.,
RA Wheeler R., Kusumi K., Mole S., Liu W., Soares M.B., Bonaldo M.F.,
RA Hirvasniemi A., de la Chapelle A., Gilliam T.C., Lehesjoki A.-E.;
RT "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are
RT associated with mutations in CLN8.";
RL Nat. Genet. 23:233-236(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
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 [4]
RP SUBCELLULAR LOCATION, AND MUTAGENESIS OF 283-LYS-LYS-284.
RX PubMed=10861296; DOI=10.1093/hmg/9.11.1691;
RA Lonka L., Kyttaelae A., Ranta S., Jalanko A., Lehesjoki A.-E.;
RT "The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of
RT the endoplasmic reticulum.";
RL Hum. Mol. Genet. 9:1691-1697(2000).
RN [5]
RP INTERACTION WITH CLN3.
RX PubMed=17237713; DOI=10.1203/pdr.0b013e31802d8a4a;
RA Persaud-Sawin D.A., Mousallem T., Wang C., Zucker A., Kominami E.,
RA Boustany R.M.;
RT "Neuronal ceroid lipofuscinosis: a common pathway?";
RL Pediatr. Res. 61:146-152(2007).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=19941651; DOI=10.1186/1471-2121-10-83;
RA Lyly A., von Schantz C., Heine C., Schmiedt M.L., Sipilae T., Jalanko A.,
RA Kyttaelae A.;
RT "Novel interactions of CLN5 support molecular networking between neuronal
RT ceroid lipofuscinosis proteins.";
RL BMC Cell Biol. 10:83-83(2009).
RN [7]
RP VARIANTS CLN8 MET-16; MET-170; CYS-204 AND CYS-263.
RX PubMed=15024724; DOI=10.1002/humu.20018;
RA Ranta S., Topcu M., Tegelberg S., Tan H., Uestuebuetuen A., Saatci I.,
RA Dufke A., Enders H., Pohl K., Alembik Y., Mitchell W.A., Mole S.E.,
RA Lehesjoki A.-E.;
RT "Variant late infantile neuronal ceroid lipofuscinosis in a subset of
RT Turkish patients is allelic to Northern epilepsy.";
RL Hum. Mutat. 23:300-305(2004).
RN [8]
RP VARIANTS CLN8 PRO-30; CYS-158 AND ARG-194.
RX PubMed=16570191; DOI=10.1007/s10048-005-0024-y;
RA Cannelli N., Cassandrini D., Bertini E., Striano P., Fusco L., Gaggero R.,
RA Specchio N., Biancheri R., Vigevano F., Bruno C., Simonati A., Zara F.,
RA Santorelli F.M.;
RT "Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid
RT lipofuscinosis: Another genetic hit in the Mediterranean.";
RL Neurogenetics 7:111-117(2006).
RN [9]
RP VARIANTS CLN8 CYS-158 AND ARG-237.
RX PubMed=19201763; DOI=10.1093/brain/awn366;
RA Kousi M., Siintola E., Dvorakova L., Vlaskova H., Turnbull J., Topcu M.,
RA Yuksel D., Gokben S., Minassian B.A., Elleder M., Mole S.E.,
RA Lehesjoki A.-E.;
RT "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile
RT neuronal ceroid lipofuscinosis.";
RL Brain 132:810-819(2009).
RN [10]
RP VARIANT CLN8 LYS-61 DEL, AND FUNCTION.
RX PubMed=19431184; DOI=10.1002/humu.21012;
RA Vantaggiato C., Redaelli F., Falcone S., Perrotta C., Tonelli A.,
RA Bondioni S., Morbin M., Riva D., Saletti V., Bonaglia M.C., Giorda R.,
RA Bresolin N., Clementi E., Bassi M.T.;
RT "A novel CLN8 mutation in late-infantile-onset neuronal ceroid
RT lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.";
RL Hum. Mutat. 30:1104-1116(2009).
RN [11]
RP VARIANTS CLN8 LEU-204 AND ARG-237.
RX PubMed=19807737; DOI=10.1111/j.1399-0004.2009.01285.x;
RA Reinhardt K., Grapp M., Schlachter K., Brueck W., Gaertner J.,
RA Steinfeld R.;
RT "Novel CLN8 mutations confirm the clinical and ethnic diversity of late
RT infantile neuronal ceroid lipofuscinosis.";
RL Clin. Genet. 77:79-85(2010).
RN [12]
RP VARIANTS CLN8 HIS-70; ARG-76; SER-107; TYR-139; TRP-213 DEL; SER-221;
RP ARG-237 AND VAL-269, VARIANT CLN8NE GLY-24, AND VARIANTS SER-125 AND
RP ALA-229.
RX PubMed=21990111; DOI=10.1002/humu.21624;
RA Kousi M., Lehesjoki A.E., Mole S.E.;
RT "Update of the mutation spectrum and clinical correlations of over 360
RT mutations in eight genes that underlie the neuronal ceroid
RT lipofuscinoses.";
RL Hum. Mutat. 33:42-63(2012).
RN [13]
RP VARIANT CLN8 ARG-207.
RX PubMed=26443629; DOI=10.1016/j.braindev.2015.09.008;
RA Katata Y., Uematsu M., Sato H., Suzuki S., Nakayama T., Kubota Y.,
RA Kobayashi T., Hino-Fukuyo N., Saitsu H., Kure S.;
RT "Novel missense mutation in CLN8 in late infantile neuronal ceroid
RT lipofuscinosis: The first report of a CLN8 mutation in Japan.";
RL Brain Dev. 38:341-345(2016).
RN [14]
RP VARIANT ALA-229.
RX PubMed=27535533; DOI=10.1038/nature19057;
RG Exome Aggregation Consortium;
RA Lek M., Karczewski K.J., Minikel E.V., Samocha K.E., Banks E., Fennell T.,
RA O'Donnell-Luria A.H., Ware J.S., Hill A.J., Cummings B.B., Tukiainen T.,
RA Birnbaum D.P., Kosmicki J.A., Duncan L.E., Estrada K., Zhao F., Zou J.,
RA Pierce-Hoffman E., Berghout J., Cooper D.N., Deflaux N., DePristo M.,
RA Do R., Flannick J., Fromer M., Gauthier L., Goldstein J., Gupta N.,
RA Howrigan D., Kiezun A., Kurki M.I., Moonshine A.L., Natarajan P.,
RA Orozco L., Peloso G.M., Poplin R., Rivas M.A., Ruano-Rubio V., Rose S.A.,
RA Ruderfer D.M., Shakir K., Stenson P.D., Stevens C., Thomas B.P., Tiao G.,
RA Tusie-Luna M.T., Weisburd B., Won H.H., Yu D., Altshuler D.M.,
RA Ardissino D., Boehnke M., Danesh J., Donnelly S., Elosua R., Florez J.C.,
RA Gabriel S.B., Getz G., Glatt S.J., Hultman C.M., Kathiresan S., Laakso M.,
RA McCarroll S., McCarthy M.I., McGovern D., McPherson R., Neale B.M.,
RA Palotie A., Purcell S.M., Saleheen D., Scharf J.M., Sklar P.,
RA Sullivan P.F., Tuomilehto J., Tsuang M.T., Watkins H.C., Wilson J.G.,
RA Daly M.J., MacArthur D.G.;
RT "Analysis of protein-coding genetic variation in 60,706 humans.";
RL Nature 536:285-291(2016).
CC -!- FUNCTION: Could play a role in cell proliferation during neuronal
CC differentiation and in protection against cell death.
CC {ECO:0000269|PubMed:19431184}.
CC -!- SUBUNIT: Interacts with CLN5 (By similarity). Interacts with CLN3
CC (PubMed:17237713). {ECO:0000250|UniProtKB:Q9QUK3,
CC ECO:0000269|PubMed:17237713}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:10861296}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:10861296}. Endoplasmic reticulum-Golgi intermediate
CC compartment membrane {ECO:0000269|PubMed:10861296}; Multi-pass membrane
CC protein {ECO:0000269|PubMed:10861296}. Endoplasmic reticulum
CC {ECO:0000269|PubMed:19941651}.
CC -!- PTM: Does not seem to be N-glycosylated.
CC -!- DISEASE: Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]: A form
CC of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal
CC ceroid lipofuscinoses are progressive neurodegenerative, lysosomal
CC storage diseases characterized by intracellular accumulation of
CC autofluorescent liposomal material, and clinically by seizures,
CC dementia, visual loss, and/or cerebral atrophy. The lipopigment
CC patterns observed most often in neuronal ceroid lipofuscinosis type 8
CC comprise mixed combinations of granular, curvilinear, and fingerprint
CC profiles. {ECO:0000269|PubMed:15024724, ECO:0000269|PubMed:16570191,
CC ECO:0000269|PubMed:19201763, ECO:0000269|PubMed:19431184,
CC ECO:0000269|PubMed:19807737, ECO:0000269|PubMed:21990111,
CC ECO:0000269|PubMed:26443629}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
CC (CLN8NE) [MIM:610003]: A form of neuronal ceroid lipofuscinosis
CC clinically characterized by epilepsy that presents between 5 and 10
CC years of age with frequent tonic-clonic seizures followed by
CC progressive intellectual disability. Visual loss is not a prominent
CC feature. Intracellular accumulation of autofluorescent material results
CC in curvilinear and granular profiles on ultrastructural analysis.
CC {ECO:0000269|PubMed:10508524, ECO:0000269|PubMed:21990111}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- WEB RESOURCE: Name=NCL CLN8; Note=Neural Ceroid Lipofuscinoses mutation
CC db;
CC URL="https://www.ucl.ac.uk/ncl/cln8.shtml";
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DR EMBL; AF123757; AAF13115.1; -; mRNA.
DR EMBL; AF123758; AAF13116.1; -; mRNA.
DR EMBL; AF123759; AAF13117.1; -; mRNA.
DR EMBL; AF123760; AAF13118.1; -; mRNA.
DR EMBL; AF123761; AAF13119.1; -; mRNA.
DR EMBL; BT007049; AAP35698.1; -; mRNA.
DR EMBL; BC007725; AAH07725.1; -; mRNA.
DR CCDS; CCDS5956.1; -.
DR RefSeq; NP_061764.2; NM_018941.3.
DR RefSeq; XP_005266078.1; XM_005266021.3.
DR RefSeq; XP_005266079.1; XM_005266022.1.
DR RefSeq; XP_005266080.1; XM_005266023.1.
DR RefSeq; XP_011533047.1; XM_011534745.1.
DR RefSeq; XP_011533048.1; XM_011534746.2.
DR AlphaFoldDB; Q9UBY8; -.
DR BioGRID; 108369; 41.
DR IntAct; Q9UBY8; 1.
DR MINT; Q9UBY8; -.
DR STRING; 9606.ENSP00000328182; -.
DR PhosphoSitePlus; Q9UBY8; -.
DR BioMuta; CLN8; -.
DR DMDM; 145559455; -.
DR EPD; Q9UBY8; -.
DR jPOST; Q9UBY8; -.
DR MassIVE; Q9UBY8; -.
DR MaxQB; Q9UBY8; -.
DR PaxDb; Q9UBY8; -.
DR PeptideAtlas; Q9UBY8; -.
DR PRIDE; Q9UBY8; -.
DR ProteomicsDB; 84100; -.
DR Antibodypedia; 21957; 148 antibodies from 24 providers.
DR DNASU; 2055; -.
DR Ensembl; ENST00000331222.6; ENSP00000328182.4; ENSG00000182372.10.
DR Ensembl; ENST00000519254.2; ENSP00000490016.1; ENSG00000182372.10.
DR Ensembl; ENST00000619400.2; ENSP00000482713.1; ENSG00000278220.2.
DR Ensembl; ENST00000635751.1; ENSP00000489694.1; ENSG00000182372.10.
DR Ensembl; ENST00000635970.1; ENSP00000490439.1; ENSG00000182372.10.
DR Ensembl; ENST00000637083.1; ENSP00000490235.1; ENSG00000182372.10.
DR Ensembl; ENST00000637156.1; ENSP00000490458.1; ENSG00000182372.10.
DR GeneID; 2055; -.
DR KEGG; hsa:2055; -.
DR MANE-Select; ENST00000331222.6; ENSP00000328182.4; NM_018941.4; NP_061764.2.
DR UCSC; uc003wpo.5; human.
DR CTD; 2055; -.
DR DisGeNET; 2055; -.
DR GeneCards; CLN8; -.
DR HGNC; HGNC:2079; CLN8.
DR HPA; ENSG00000182372; Low tissue specificity.
DR MalaCards; CLN8; -.
DR MIM; 600143; phenotype.
DR MIM; 607837; gene.
DR MIM; 610003; phenotype.
DR neXtProt; NX_Q9UBY8; -.
DR OpenTargets; ENSG00000182372; -.
DR Orphanet; 228354; CLN8 disease.
DR Orphanet; 1947; Progressive epilepsy-intellectual disability syndrome, Finnish type.
DR PharmGKB; PA26606; -.
DR VEuPathDB; HostDB:ENSG00000182372; -.
DR eggNOG; KOG4561; Eukaryota.
DR GeneTree; ENSGT01010000222313; -.
DR HOGENOM; CLU_951678_0_0_1; -.
DR InParanoid; Q9UBY8; -.
DR OMA; FFRTFDL; -.
DR OrthoDB; 1354968at2759; -.
DR PhylomeDB; Q9UBY8; -.
DR TreeFam; TF331146; -.
DR PathwayCommons; Q9UBY8; -.
DR SignaLink; Q9UBY8; -.
DR SIGNOR; Q9UBY8; -.
DR BioGRID-ORCS; 2055; 9 hits in 1078 CRISPR screens.
DR ChiTaRS; CLN8; human.
DR GeneWiki; CLN8; -.
DR GenomeRNAi; 2055; -.
DR Pharos; Q9UBY8; Tbio.
DR PRO; PR:Q9UBY8; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9UBY8; protein.
DR Bgee; ENSG00000182372; Expressed in corpus callosum and 103 other tissues.
DR ExpressionAtlas; Q9UBY8; baseline and differential.
DR Genevisible; Q9UBY8; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005793; C:endoplasmic reticulum-Golgi intermediate compartment; IDA:UniProtKB.
DR GO; GO:0033116; C:endoplasmic reticulum-Golgi intermediate compartment membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IEA:GOC.
DR GO; GO:0098793; C:presynapse; IEA:GOC.
DR GO; GO:0097001; F:ceramide binding; IDA:UniProtKB.
DR GO; GO:0007628; P:adult walking behavior; IEA:Ensembl.
DR GO; GO:0001306; P:age-dependent response to oxidative stress; IEA:Ensembl.
DR GO; GO:0008306; P:associative learning; IEA:Ensembl.
DR GO; GO:0044265; P:cellular macromolecule catabolic process; IEA:Ensembl.
DR GO; GO:0046513; P:ceramide biosynthetic process; NAS:UniProtKB.
DR GO; GO:0006672; P:ceramide metabolic process; IMP:UniProtKB.
DR GO; GO:0008203; P:cholesterol metabolic process; IMP:UniProtKB.
DR GO; GO:0051935; P:glutamate reuptake; IEA:Ensembl.
DR GO; GO:0008610; P:lipid biosynthetic process; NAS:UniProtKB.
DR GO; GO:0055088; P:lipid homeostasis; IBA:GO_Central.
DR GO; GO:0006869; P:lipid transport; NAS:UniProtKB.
DR GO; GO:0007040; P:lysosome organization; IEA:Ensembl.
DR GO; GO:0007006; P:mitochondrial membrane organization; IEA:Ensembl.
DR GO; GO:0050881; P:musculoskeletal movement; IEA:Ensembl.
DR GO; GO:0043524; P:negative regulation of neuron apoptotic process; IEA:Ensembl.
DR GO; GO:0045861; P:negative regulation of proteolysis; NAS:UniProtKB.
DR GO; GO:0007399; P:nervous system development; IMP:UniProtKB.
DR GO; GO:0060052; P:neurofilament cytoskeleton organization; IEA:Ensembl.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
DR GO; GO:0050884; P:neuromuscular process controlling posture; IEA:Ensembl.
DR GO; GO:0006644; P:phospholipid metabolic process; IMP:UniProtKB.
DR GO; GO:0045494; P:photoreceptor cell maintenance; IEA:Ensembl.
DR GO; GO:0030163; P:protein catabolic process; NAS:UniProtKB.
DR GO; GO:0008361; P:regulation of cell size; IEA:Ensembl.
DR GO; GO:0060041; P:retina development in camera-type eye; IEA:Ensembl.
DR GO; GO:0097473; P:retinal rod cell apoptotic process; IEA:Ensembl.
DR GO; GO:0035176; P:social behavior; IEA:Ensembl.
DR GO; GO:0021523; P:somatic motor neuron differentiation; IEA:Ensembl.
DR GO; GO:0007601; P:visual perception; IEA:Ensembl.
DR InterPro; IPR006634; TLC-dom.
DR Pfam; PF03798; TRAM_LAG1_CLN8; 1.
DR SMART; SM00724; TLC; 1.
DR PROSITE; PS50922; TLC; 1.
PE 1: Evidence at protein level;
KW Disease variant; Endoplasmic reticulum; Epilepsy; Intellectual disability;
KW Membrane; Neurodegeneration; Neuronal ceroid lipofuscinosis;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..286
FT /note="Protein CLN8"
FT /id="PRO_0000185537"
FT TRANSMEM 21..41
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 62..84
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 103..123
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 131..151
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 226..246
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 62..262
FT /note="TLC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00205"
FT MOTIF 283..286
FT /note="ER-retrieval signal"
FT VARIANT 16
FT /note="L -> M (in CLN8; associated with M-170 on the same
FT allele; dbSNP:rs386834129)"
FT /evidence="ECO:0000269|PubMed:15024724"
FT /id="VAR_026554"
FT VARIANT 24
FT /note="R -> G (in CLN8NE; dbSNP:rs104894064)"
FT /evidence="ECO:0000269|PubMed:10508524,
FT ECO:0000269|PubMed:21990111"
FT /id="VAR_013174"
FT VARIANT 30
FT /note="A -> P (in CLN8; dbSNP:rs137852883)"
FT /evidence="ECO:0000269|PubMed:16570191"
FT /id="VAR_060573"
FT VARIANT 61
FT /note="Missing (in CLN8)"
FT /evidence="ECO:0000269|PubMed:19431184"
FT /id="VAR_060574"
FT VARIANT 70
FT /note="R -> H (in CLN8; dbSNP:rs386834124)"
FT /evidence="ECO:0000269|PubMed:21990111"
FT /id="VAR_066920"
FT VARIANT 76
FT /note="Q -> R (in CLN8; dbSNP:rs386834125)"
FT /evidence="ECO:0000269|PubMed:21990111"
FT /id="VAR_066921"
FT VARIANT 92
FT /note="H -> Y (in dbSNP:rs34030778)"
FT /id="VAR_031704"
FT VARIANT 107
FT /note="I -> S (in CLN8; dbSNP:rs386834126)"
FT /evidence="ECO:0000269|PubMed:21990111"
FT /id="VAR_066922"
FT VARIANT 125
FT /note="N -> S (in dbSNP:rs142269885)"
FT /evidence="ECO:0000269|PubMed:21990111"
FT /id="VAR_066923"
FT VARIANT 139
FT /note="H -> Y (in CLN8; dbSNP:rs386834127)"
FT /evidence="ECO:0000269|PubMed:21990111"
FT /id="VAR_066924"
FT VARIANT 155
FT /note="A -> V (in dbSNP:rs386834128)"
FT /evidence="ECO:0000269|PubMed:10508524"
FT /id="VAR_013175"
FT VARIANT 158
FT /note="Y -> C (in CLN8; dbSNP:rs386834130)"
FT /evidence="ECO:0000269|PubMed:16570191,
FT ECO:0000269|PubMed:19201763"
FT /id="VAR_058438"
FT VARIANT 170
FT /note="T -> M (in CLN8; associated with M-16 on the same
FT allele; dbSNP:rs188259026)"
FT /evidence="ECO:0000269|PubMed:15024724"
FT /id="VAR_026555"
FT VARIANT 194
FT /note="Q -> R (in CLN8; dbSNP:rs386834133)"
FT /evidence="ECO:0000269|PubMed:16570191"
FT /id="VAR_060575"
FT VARIANT 204
FT /note="R -> C (in CLN8; dbSNP:rs104894060)"
FT /evidence="ECO:0000269|PubMed:15024724"
FT /id="VAR_026556"
FT VARIANT 204
FT /note="R -> L (in CLN8; dbSNP:rs386834134)"
FT /evidence="ECO:0000269|PubMed:19807737"
FT /id="VAR_075367"
FT VARIANT 207
FT /note="L -> R (in CLN8; unknown pathological significance;
FT dbSNP:rs781166361)"
FT /evidence="ECO:0000269|PubMed:26443629"
FT /id="VAR_075368"
FT VARIANT 213
FT /note="Missing (in CLN8)"
FT /evidence="ECO:0000269|PubMed:21990111"
FT /id="VAR_066925"
FT VARIANT 221
FT /note="G -> S (in CLN8; dbSNP:rs386834136)"
FT /evidence="ECO:0000269|PubMed:21990111"
FT /id="VAR_066926"
FT VARIANT 229
FT /note="P -> A (in dbSNP:rs150047904)"
FT /evidence="ECO:0000269|PubMed:21990111,
FT ECO:0000269|PubMed:27535533"
FT /id="VAR_066927"
FT VARIANT 237
FT /note="G -> R (in CLN8; dbSNP:rs746645358)"
FT /evidence="ECO:0000269|PubMed:19201763,
FT ECO:0000269|PubMed:19807737, ECO:0000269|PubMed:21990111"
FT /id="VAR_058439"
FT VARIANT 263
FT /note="W -> C (in CLN8; dbSNP:rs28940569)"
FT /evidence="ECO:0000269|PubMed:15024724"
FT /id="VAR_026557"
FT VARIANT 269
FT /note="E -> V (in CLN8; dbSNP:rs139003032)"
FT /evidence="ECO:0000269|PubMed:21990111"
FT /id="VAR_066928"
FT MUTAGEN 283..284
FT /note="KK->RR: Localizes to the Golgi complex."
FT /evidence="ECO:0000269|PubMed:10861296"
FT CONFLICT 225
FT /note="S -> N (in Ref. 1; AAF13115)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 286 AA; 32787 MW; 1A5995B13E14DCDC CRC64;
MNPASDGGTS ESIFDLDYAS WGIRSTLMVA GFVFYLGVFV VCHQLSSSLN ATYRSLVARE
KVFWDLAATR AVFGVQSTAA GLWALLGDPV LHADKARGQQ NWCWFHITTA TGFFCFENVA
VHLSNLIFRT FDLFLVIHHL FAFLGFLGCL VNLQAGHYLA MTTLLLEMST PFTCVSWMLL
KAGWSESLFW KLNQWLMIHM FHCRMVLTYH MWWVCFWHWD GLVSSLYLPH LTLFLVGLAL
LTLIINPYWT HKKTQQLLNP VDWNFAQPEA KSRPEGNGQL LRKKRP
