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GBRD_HUMAN
ID   GBRD_HUMAN              Reviewed;         452 AA.
AC   O14764; Q8N4N9;
DT   15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT   15-FEB-2005, sequence version 2.
DT   03-AUG-2022, entry version 198.
DE   RecName: Full=Gamma-aminobutyric acid receptor subunit delta;
DE   AltName: Full=GABA(A) receptor subunit delta;
DE   Flags: Precursor;
GN   Name=GABRD;
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], AND VARIANT HIS-220.
RA   Day T.M., Hartnett C., Blankenbiller K., Ramabhadran T.V.;
RL   Submitted (AUG-1997) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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   [4]
RP   VARIANTS GEFS+5 ALA-177 AND CYS-220, VARIANT HIS-220, CHARACTERIZATION OF
RP   VARIANTS GEFS+5 ALA-177 AND CYS-220, AND CHARACTERIZATION OF VARIANT
RP   HIS-220.
RX   PubMed=15115768; DOI=10.1093/hmg/ddh146;
RA   Dibbens L.M., Feng H.-J., Richards M.C., Harkin L.A., Hodgson B.L.,
RA   Scott D., Jenkins M., Petrou S., Sutherland G.R., Scheffer I.E.,
RA   Berkovic S.F., Macdonald R.L., Mulley J.C.;
RT   "GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a
RT   susceptibility locus for generalized epilepsies.";
RL   Hum. Mol. Genet. 13:1315-1319(2004).
RN   [5]
RP   VARIANT ILE-370.
RX   PubMed=27864847; DOI=10.1002/humu.23149;
RG   Clinical Study Group;
RA   Parrini E., Marini C., Mei D., Galuppi A., Cellini E., Pucatti D.,
RA   Chiti L., Rutigliano D., Bianchini C., Virdo S., De Vita D., Bigoni S.,
RA   Barba C., Mari F., Montomoli M., Pisano T., Rosati A., Guerrini R.;
RT   "Diagnostic targeted resequencing in 349 patients with drug-resistant
RT   pediatric epilepsies identifies causative mutations in 30 different
RT   genes.";
RL   Hum. Mutat. 38:216-225(2017).
RN   [6]
RP   VARIANT SER-62.
RX   PubMed=27932480; DOI=10.1681/asn.2016040387;
RG   NephroS;
RG   UK study of Nephrotic Syndrome;
RA   Bierzynska A., Soderquest K., Dean P., Colby E., Rollason R., Jones C.,
RA   Inward C.D., McCarthy H.J., Simpson M.A., Lord G.M., Williams M.,
RA   Welsh G.I., Koziell A.B., Saleem M.A.;
RT   "MAGI2 mutations cause congenital nephrotic syndrome.";
RL   J. Am. Soc. Nephrol. 28:1614-1621(2017).
CC   -!- FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate
CC       brain, mediates neuronal inhibition by binding to the
CC       GABA/benzodiazepine receptor and opening an integral chloride channel.
CC   -!- SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor
CC       chains: alpha, beta, gamma, delta, and rho.
CC   -!- INTERACTION:
CC       O14764; Q99750: MDFI; NbExp=3; IntAct=EBI-744352, EBI-724076;
CC       O14764; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-744352, EBI-945833;
CC       O14764; Q9UMX0: UBQLN1; NbExp=4; IntAct=EBI-744352, EBI-741480;
CC       O14764; Q9UMX0-2: UBQLN1; NbExp=3; IntAct=EBI-744352, EBI-10173939;
CC   -!- SUBCELLULAR LOCATION: Postsynaptic cell membrane; Multi-pass membrane
CC       protein. Cell membrane; Multi-pass membrane protein.
CC   -!- DISEASE: Generalized epilepsy with febrile seizures plus 5 (GEFS+5)
CC       [MIM:613060]: A rare autosomal dominant, familial condition with
CC       incomplete penetrance and large intrafamilial variability. Patients
CC       display febrile seizures persisting sometimes beyond the age of 6 years
CC       and/or a variety of afebrile seizure types. This disease combines
CC       febrile seizures, generalized seizures often precipitated by fever at
CC       age 6 years or more, and partial seizures, with a variable degree of
CC       severity. {ECO:0000269|PubMed:15115768}. Note=Disease susceptibility is
CC       associated with variants affecting the gene represented in this entry.
CC   -!- DISEASE: Epilepsy, idiopathic generalized 10 (EIG10) [MIM:613060]: A
CC       disorder characterized by recurring generalized seizures in the absence
CC       of detectable brain lesions and/or metabolic abnormalities. Generalized
CC       seizures arise diffusely and simultaneously from both hemispheres of
CC       the brain. Note=Disease susceptibility is associated with variants
CC       affecting the gene represented in this entry.
CC   -!- DISEASE: Juvenile myoclonic epilepsy 7 (EJM7) [MIM:613060]: A subtype
CC       of idiopathic generalized epilepsy. Patients have afebrile seizures
CC       only, with onset in adolescence (rather than in childhood) and
CC       myoclonic jerks which usually occur after awakening and are triggered
CC       by sleep deprivation and fatigue. Note=Disease susceptibility is
CC       associated with variants affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family.
CC       Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-
CC       subfamily. {ECO:0000305}.
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DR   EMBL; AF016917; AAB70007.1; -; mRNA.
DR   EMBL; AL391845; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC033801; AAH33801.1; -; mRNA.
DR   CCDS; CCDS36.1; -.
DR   RefSeq; NP_000806.2; NM_000815.4.
DR   PDB; 7QN5; EM; 2.50 A; E=1-452.
DR   PDB; 7QN6; EM; 2.90 A; E=1-452.
DR   PDB; 7QN7; EM; 3.00 A; E=1-452.
DR   PDB; 7QN8; EM; 3.10 A; E=1-452.
DR   PDB; 7QN9; EM; 2.90 A; E=1-452.
DR   PDB; 7QNC; EM; 2.90 A; E=1-452.
DR   PDB; 7QND; EM; 3.40 A; E=1-452.
DR   PDBsum; 7QN5; -.
DR   PDBsum; 7QN6; -.
DR   PDBsum; 7QN7; -.
DR   PDBsum; 7QN8; -.
DR   PDBsum; 7QN9; -.
DR   PDBsum; 7QNC; -.
DR   PDBsum; 7QND; -.
DR   AlphaFoldDB; O14764; -.
DR   SMR; O14764; -.
DR   BioGRID; 108837; 27.
DR   ComplexPortal; CPX-2951; GABA-A receptor, alpha-6/beta-3/delta.
DR   ComplexPortal; CPX-2952; GABA-A receptor, alpha-6/beta-2/delta.
DR   ComplexPortal; CPX-2953; GABA-A receptor, alpha-4/beta-2/delta.
DR   ComplexPortal; CPX-2954; GABA-A receptor, alpha-4/beta-3/delta.
DR   CORUM; O14764; -.
DR   IntAct; O14764; 18.
DR   MINT; O14764; -.
DR   STRING; 9606.ENSP00000367848; -.
DR   BindingDB; O14764; -.
DR   ChEMBL; CHEMBL3591; -.
DR   DrugBank; DB12537; 1,2-Benzodiazepine.
DR   DrugBank; DB00546; Adinazolam.
DR   DrugBank; DB00404; Alprazolam.
DR   DrugBank; DB00543; Amoxapine.
DR   DrugBank; DB11901; Apalutamide.
DR   DrugBank; DB14719; Bentazepam.
DR   DrugBank; DB11859; Brexanolone.
DR   DrugBank; DB01558; Bromazepam.
DR   DrugBank; DB09017; Brotizolam.
DR   DrugBank; DB00237; Butabarbital.
DR   DrugBank; DB00241; Butalbital.
DR   DrugBank; DB01489; Camazepam.
DR   DrugBank; DB00475; Chlordiazepoxide.
DR   DrugBank; DB14715; Cinazepam.
DR   DrugBank; DB01594; Cinolazepam.
DR   DrugBank; DB00349; Clobazam.
DR   DrugBank; DB01068; Clonazepam.
DR   DrugBank; DB00628; Clorazepic acid.
DR   DrugBank; DB01559; Clotiazepam.
DR   DrugBank; DB01553; Cloxazolam.
DR   DrugBank; DB01511; Delorazepam.
DR   DrugBank; DB01189; Desflurane.
DR   DrugBank; DB00829; Diazepam.
DR   DrugBank; DB13837; Doxefazepam.
DR   DrugBank; DB00228; Enflurane.
DR   DrugBank; DB01215; Estazolam.
DR   DrugBank; DB00402; Eszopiclone.
DR   DrugBank; DB00898; Ethanol.
DR   DrugBank; DB00189; Ethchlorvynol.
DR   DrugBank; DB01545; Ethyl loflazepate.
DR   DrugBank; DB09166; Etizolam.
DR   DrugBank; DB00292; Etomidate.
DR   DrugBank; DB01567; Fludiazepam.
DR   DrugBank; DB01205; Flumazenil.
DR   DrugBank; DB01544; Flunitrazepam.
DR   DrugBank; DB00690; Flurazepam.
DR   DrugBank; DB01437; Glutethimide.
DR   DrugBank; DB00801; Halazepam.
DR   DrugBank; DB01159; Halothane.
DR   DrugBank; DB00753; Isoflurane.
DR   DrugBank; DB01587; Ketazolam.
DR   DrugBank; DB00555; Lamotrigine.
DR   DrugBank; DB13643; Loprazolam.
DR   DrugBank; DB00186; Lorazepam.
DR   DrugBank; DB13872; Lormetazepam.
DR   DrugBank; DB13437; Medazepam.
DR   DrugBank; DB00603; Medroxyprogesterone acetate.
DR   DrugBank; DB01043; Memantine.
DR   DrugBank; DB00371; Meprobamate.
DR   DrugBank; DB00463; Metharbital.
DR   DrugBank; DB01028; Methoxyflurane.
DR   DrugBank; DB01107; Methyprylon.
DR   DrugBank; DB15489; Mexazolam.
DR   DrugBank; DB00683; Midazolam.
DR   DrugBank; DB01595; Nitrazepam.
DR   DrugBank; DB14028; Nordazepam.
DR   DrugBank; DB00842; Oxazepam.
DR   DrugBank; DB14672; Oxazepam acetate.
DR   DrugBank; DB00312; Pentobarbital.
DR   DrugBank; DB00252; Phenytoin.
DR   DrugBank; DB13335; Pinazepam.
DR   DrugBank; DB01708; Prasterone.
DR   DrugBank; DB01588; Prazepam.
DR   DrugBank; DB00794; Primidone.
DR   DrugBank; DB00818; Propofol.
DR   DrugBank; DB01589; Quazepam.
DR   DrugBank; DB12404; Remimazolam.
DR   DrugBank; DB01236; Sevoflurane.
DR   DrugBank; DB09118; Stiripentol.
DR   DrugBank; DB00306; Talbutal.
DR   DrugBank; DB01956; Taurine.
DR   DrugBank; DB00231; Temazepam.
DR   DrugBank; DB11582; Thiocolchicoside.
DR   DrugBank; DB00897; Triazolam.
DR   DrugCentral; O14764; -.
DR   GlyGen; O14764; 2 sites.
DR   iPTMnet; O14764; -.
DR   PhosphoSitePlus; O14764; -.
DR   BioMuta; GABRD; -.
DR   MassIVE; O14764; -.
DR   PaxDb; O14764; -.
DR   PeptideAtlas; O14764; -.
DR   PRIDE; O14764; -.
DR   Antibodypedia; 12525; 254 antibodies from 32 providers.
DR   DNASU; 2563; -.
DR   Ensembl; ENST00000378585.7; ENSP00000367848.4; ENSG00000187730.9.
DR   GeneID; 2563; -.
DR   KEGG; hsa:2563; -.
DR   MANE-Select; ENST00000378585.7; ENSP00000367848.4; NM_000815.5; NP_000806.2.
DR   UCSC; uc001aip.3; human.
DR   CTD; 2563; -.
DR   DisGeNET; 2563; -.
DR   GeneCards; GABRD; -.
DR   HGNC; HGNC:4084; GABRD.
DR   HPA; ENSG00000187730; Tissue enriched (brain).
DR   MalaCards; GABRD; -.
DR   MIM; 137163; gene.
DR   MIM; 613060; phenotype.
DR   neXtProt; NX_O14764; -.
DR   OpenTargets; ENSG00000187730; -.
DR   Orphanet; 1606; 1p36 deletion syndrome.
DR   Orphanet; 36387; Generalized epilepsy with febrile seizures-plus.
DR   Orphanet; 307; Juvenile myoclonic epilepsy.
DR   PharmGKB; PA28498; -.
DR   VEuPathDB; HostDB:ENSG00000187730; -.
DR   eggNOG; KOG3643; Eukaryota.
DR   GeneTree; ENSGT00940000160122; -.
DR   HOGENOM; CLU_010920_0_1_1; -.
DR   InParanoid; O14764; -.
DR   OrthoDB; 480926at2759; -.
DR   PhylomeDB; O14764; -.
DR   TreeFam; TF315453; -.
DR   PathwayCommons; O14764; -.
DR   SignaLink; O14764; -.
DR   SIGNOR; O14764; -.
DR   BioGRID-ORCS; 2563; 8 hits in 1070 CRISPR screens.
DR   GeneWiki; GABRD; -.
DR   GenomeRNAi; 2563; -.
DR   Pharos; O14764; Tclin.
DR   PRO; PR:O14764; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; O14764; protein.
DR   Bgee; ENSG00000187730; Expressed in right hemisphere of cerebellum and 107 other tissues.
DR   ExpressionAtlas; O14764; baseline and differential.
DR   Genevisible; O14764; HS.
DR   GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR   GO; GO:0030424; C:axon; IEA:Ensembl.
DR   GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR   GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR   GO; GO:1902711; C:GABA-A receptor complex; IBA:GO_Central.
DR   GO; GO:0098982; C:GABA-ergic synapse; IEA:Ensembl.
DR   GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR   GO; GO:0099055; C:integral component of postsynaptic membrane; IEA:Ensembl.
DR   GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR   GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR   GO; GO:0045202; C:synapse; IBA:GO_Central.
DR   GO; GO:0005254; F:chloride channel activity; IEA:UniProtKB-KW.
DR   GO; GO:0005231; F:excitatory extracellular ligand-gated ion channel activity; IBA:GO_Central.
DR   GO; GO:0004890; F:GABA-A receptor activity; TAS:ProtInc.
DR   GO; GO:0030594; F:neurotransmitter receptor activity; IBA:GO_Central.
DR   GO; GO:1904315; F:transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential; IBA:GO_Central.
DR   GO; GO:0007268; P:chemical synaptic transmission; IBA:GO_Central.
DR   GO; GO:1902476; P:chloride transmembrane transport; IBA:GO_Central.
DR   GO; GO:0034220; P:ion transmembrane transport; IBA:GO_Central.
DR   GO; GO:0050877; P:nervous system process; IBA:GO_Central.
DR   GO; GO:0042391; P:regulation of membrane potential; IBA:GO_Central.
DR   GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR   Gene3D; 1.20.58.390; -; 1.
DR   Gene3D; 2.70.170.10; -; 1.
DR   InterPro; IPR006028; GABAA/Glycine_rcpt.
DR   InterPro; IPR008098; GABAAd_rcpt.
DR   InterPro; IPR006202; Neur_chan_lig-bd.
DR   InterPro; IPR036734; Neur_chan_lig-bd_sf.
DR   InterPro; IPR006201; Neur_channel.
DR   InterPro; IPR036719; Neuro-gated_channel_TM_sf.
DR   InterPro; IPR038050; Neuro_actylchol_rec.
DR   InterPro; IPR006029; Neurotrans-gated_channel_TM.
DR   InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
DR   PANTHER; PTHR18945; PTHR18945; 1.
DR   PANTHER; PTHR18945:SF34; PTHR18945:SF34; 1.
DR   Pfam; PF02931; Neur_chan_LBD; 1.
DR   Pfam; PF02932; Neur_chan_memb; 1.
DR   PRINTS; PR01722; GABAARDELTA.
DR   PRINTS; PR00253; GABAARECEPTR.
DR   PRINTS; PR00252; NRIONCHANNEL.
DR   SUPFAM; SSF63712; SSF63712; 1.
DR   SUPFAM; SSF90112; SSF90112; 1.
DR   TIGRFAMs; TIGR00860; LIC; 1.
DR   PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Cell membrane; Chloride; Chloride channel; Disease variant;
KW   Disulfide bond; Epilepsy; Glycoprotein; Ion channel; Ion transport;
KW   Membrane; Phosphoprotein; Postsynaptic cell membrane; Reference proteome;
KW   Signal; Synapse; Transmembrane; Transmembrane helix; Transport.
FT   SIGNAL          1..16
FT                   /evidence="ECO:0000255"
FT   CHAIN           17..452
FT                   /note="Gamma-aminobutyric acid receptor subunit delta"
FT                   /id="PRO_0000000468"
FT   TOPO_DOM        17..248
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000305"
FT   TRANSMEM        249..271
FT                   /note="Helical"
FT                   /evidence="ECO:0000305"
FT   TRANSMEM        275..297
FT                   /note="Helical"
FT                   /evidence="ECO:0000305"
FT   TRANSMEM        309..331
FT                   /note="Helical"
FT                   /evidence="ECO:0000305"
FT   TOPO_DOM        332..429
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000305"
FT   TRANSMEM        430..452
FT                   /note="Helical"
FT                   /evidence="ECO:0000305"
FT   MOD_RES         390
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:P18506"
FT   CARBOHYD        103
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        106
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   DISULFID        164..178
FT                   /evidence="ECO:0000250"
FT   VARIANT         62
FT                   /note="P -> S"
FT                   /evidence="ECO:0000269|PubMed:27932480"
FT                   /id="VAR_079270"
FT   VARIANT         177
FT                   /note="E -> A (in GEFS+5; reduced receptor current
FT                   amplitudes; dbSNP:rs121434580)"
FT                   /evidence="ECO:0000269|PubMed:15115768"
FT                   /id="VAR_043151"
FT   VARIANT         220
FT                   /note="R -> C (in GEFS+5; unknown pathological
FT                   significance; does not affect receptor current amplitudes;
FT                   dbSNP:rs139300921)"
FT                   /evidence="ECO:0000269|PubMed:15115768"
FT                   /id="VAR_043152"
FT   VARIANT         220
FT                   /note="R -> H (is a risk factor for epilepsy; reduced
FT                   receptor current amplitudes; dbSNP:rs41307846)"
FT                   /evidence="ECO:0000269|PubMed:15115768, ECO:0000269|Ref.1"
FT                   /id="VAR_043153"
FT   VARIANT         370
FT                   /note="V -> I (found in a patient with childhood onset
FT                   epileptic encephalopathy; unknown pathological
FT                   significance; dbSNP:rs1057519556)"
FT                   /evidence="ECO:0000269|PubMed:27864847"
FT                   /id="VAR_078225"
SQ   SEQUENCE   452 AA;  50708 MW;  682501DE93144CE4 CRC64;
     MDAPARLLAP LLLLCAQQLR GTRAMNDIGD YVGSNLEISW LPNLDGLIAG YARNFRPGIG
     GPPVNVALAL EVASIDHISE ANMEYTMTVF LHQSWRDSRL SYNHTNETLG LDSRFVDKLW
     LPDTFIVNAK SAWFHDVTVE NKLIRLQPDG VILYSIRITS TVACDMDLAK YPMDEQECML
     DLESYGYSSE DIVYYWSESQ EHIHGLDKLQ LAQFTITSYR FTTELMNFKS AGQFPRLSLH
     FHLRRNRGVY IIQSYMPSVL LVAMSWVSFW ISQAAVPARV SLGITTVLTM TTLMVSARSS
     LPRASAIKAL DVYFWICYVF VFAALVEYAF AHFNADYRKK QKAKVKVSRP RAEMDVRNAI
     VLFSLSAAGV TQELAISRRQ RRVPGNLMGS YRSVGVETGE TKKEGAARSG GQGGIRARLR
     PIDADTIDIY ARAVFPAAFA AVNVIYWAAY AM
 
 
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