ID NMD3A_HUMAN Reviewed; 1115 AA. AC Q8TCU5; B3DLF9; Q5VTR3; Q8TF29; Q8WXI6; DT 31-AUG-2004, integrated into UniProtKB/Swiss-Prot. DT 04-NOV-2008, sequence version 2. DT 24-JAN-2024, entry version 176. DE RecName: Full=Glutamate receptor ionotropic, NMDA 3A; DE Short=GluN3A; DE AltName: Full=N-methyl-D-aspartate receptor subtype 3A; DE Short=NMDAR3A; DE Short=NR3A; DE AltName: Full=NMDAR-L; DE Flags: Precursor; GN Name=GRIN3A; Synonyms=KIAA1973; 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 ARG-487. RC TISSUE=Brain; RX PubMed=11735224; DOI=10.1006/geno.2001.6666; RA Andersson O., Stenqvist A., Attersand A., von Euler G.; RT "Nucleotide sequence, genomic organization, and chromosomal localization of RT genes encoding the human NMDA receptor subunits NR3A and NR3B."; RL Genomics 78:178-184(2001). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MET-362; ARG-487 AND ASN-835, AND RP TISSUE SPECIFICITY. RC TISSUE=Brain; RX PubMed=11880201; DOI=10.1016/s0304-3940(01)02524-1; RA Eriksson M., Nilsson A., Froelich-Fabre S., Aakesson E., Dunker J., RA Seiger A., Folkesson R., Benedikz E., Sundstroem E.; RT "Cloning and expression of the human NMDA receptor subunit NR3A."; RL Neurosci. Lett. 321:177-181(2002). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-1041. RC TISSUE=Brain; RX PubMed=11853319; DOI=10.1093/dnares/8.6.319; RA Nagase T., Kikuno R., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XXII. The RT complete sequences of 50 new cDNA clones which code for large proteins."; RL DNA Res. 8:319-327(2001). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15164053; DOI=10.1038/nature02465; RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., RA Dunham I.; RT "DNA sequence and analysis of human chromosome 9."; RL Nature 429:369-374(2004). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-1041. 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 [6] RP TISSUE SPECIFICITY. RX PubMed=14684485; DOI=10.1196/annals.1300.049; RA Mueller H.T., Meador-Woodruff J.H.; RT "Expression of the NR3A subunit of the NMDA receptor in human fetal RT brain."; RL Ann. N. Y. Acad. Sci. 1003:448-451(2003). RN [7] RP INTERACTION WITH PPP2CB. RX PubMed=11588171; DOI=10.1523/jneurosci.21-20-07985.2001; RA Chan S.F., Sucher N.J.; RT "An NMDA receptor signaling complex with protein phosphatase 2A."; RL J. Neurosci. 21:7985-7992(2001). RN [8] RP VARIANTS ILE-72; GLY-111; SER-116; 227-GLU--SER-1115 DEL; TRP-337; ARG-373; RP THR-375; PRO-434; PHE-493; 508-GLN--SER-1115 DEL; SER-565; ASN-586; RP LEU-641; SER-793; MET-921; HIS-956 AND ASN-1028. RX PubMed=22833210; DOI=10.1038/tp.2011.52; RG S2D team; RA Tarabeux J., Kebir O., Gauthier J., Hamdan F.F., Xiong L., Piton A., RA Spiegelman D., Henrion E., Millet B., Fathalli F., Joober R., RA Rapoport J.L., DeLisi L.E., Fombonne E., Mottron L., Forget-Dubois N., RA Boivin M., Michaud J.L., Drapeau P., Lafreniere R.G., Rouleau G.A., RA Krebs M.O.; RT "Rare mutations in N-methyl-D-aspartate glutamate receptors in autism RT spectrum disorders and schizophrenia."; RL Transl. Psychiatry 1:E55-E55(2011). CC -!- FUNCTION: NMDA receptor subtype of glutamate-gated ion channels with CC reduced single-channel conductance, low calcium permeability and low CC voltage-dependent sensitivity to magnesium. Mediated by glycine. During CC the development of neural circuits, plays a role in the synaptic CC refinement period, restricting spine maturation and growth. By CC competing with GIT1 interaction with ARHGEF7/beta-PIX, may reduce CC GIT1/ARHGEF7-regulated local activation of RAC1, hence affecting CC signaling and limiting the maturation and growth of inactive synapses. CC May also play a role in PPP2CB-NMDAR mediated signaling mechanism. CC {ECO:0000250|UniProtKB:Q9R1M7}. CC -!- SUBUNIT: Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon CC subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A CC or GRIN3B). Does not form functional homomeric channels. Found in a CC complex with GRIN1, GRIN2A or GRIN2B and PPP2CB (By similarity). CC Probably interacts with PPP2CB. No complex with PPP2CB is detected when CC NMDARs are stimulated by NMDA (PubMed:11588171). Interacts (via C- CC terminus) with GIT1, but not with GRIA1/GluA1, nor with CC synaptophysin/SYP; this interaction competes with GIT1 interaction with CC ARHGEF7/beta-PIX (By similarity). {ECO:0000250|UniProtKB:Q9R1M7, CC ECO:0000269|PubMed:11588171}. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q9R1M7}; CC Multi-pass membrane protein {ECO:0000250}. Postsynaptic cell membrane CC {ECO:0000250}. Postsynaptic density {ECO:0000250}. Note=Enriched in CC postsynaptic plasma membrane and postsynaptic densities. Requires the CC presence of GRIN1 to be targeted at the plasma membrane (By CC similarity). {ECO:0000250}. CC -!- DEVELOPMENTAL STAGE: Expressed in fetal brain. CC {ECO:0000269|PubMed:14684485}. CC -!- PTM: N-glycosylated. {ECO:0000250}. CC -!- SIMILARITY: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) CC family. NR3A/GRIN3A subfamily. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAB85559.1; Type=Erroneous initiation; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF416558; AAL40734.1; -; mRNA. DR EMBL; AJ416950; CAC95229.2; -; mRNA. DR EMBL; AB075853; BAB85559.1; ALT_INIT; mRNA. DR EMBL; AL591377; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL356516; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC167432; AAI67432.1; -; mRNA. DR CCDS; CCDS6758.1; -. DR RefSeq; NP_597702.2; NM_133445.2. DR AlphaFoldDB; Q8TCU5; -. DR SMR; Q8TCU5; -. DR BioGRID; 125508; 7. DR CORUM; Q8TCU5; -. DR STRING; 9606.ENSP00000355155; -. DR ChEMBL; CHEMBL4787; -. DR DrugBank; DB00659; Acamprosate. DR DrugBank; DB06151; Acetylcysteine. DR DrugBank; DB00915; Amantadine. DR DrugBank; DB01238; Aripiprazole. DR DrugBank; DB00289; Atomoxetine. DR DrugBank; DB00514; Dextromethorphan. DR DrugBank; DB00647; Dextropropoxyphene. DR DrugBank; DB00843; Donepezil. DR DrugBank; DB00228; Enflurane. DR DrugBank; DB11823; Esketamine. DR DrugBank; DB00898; Ethanol. DR DrugBank; DB13146; Fluciclovine (18F). DR DrugBank; DB06741; Gavestinel. DR DrugBank; DB00142; Glutamic acid. DR DrugBank; DB00874; Guaifenesin. DR DrugBank; DB01159; Halothane. DR DrugBank; DB01221; Ketamine. DR DrugBank; DB06738; Ketobemidone. DR DrugBank; DB09409; Magnesium acetate tetrahydrate. DR DrugBank; DB09481; Magnesium carbonate. DR DrugBank; DB01043; Memantine. DR DrugBank; DB00333; Methadone. DR DrugBank; DB04896; Milnacipran. DR DrugBank; DB04926; Neramexane. DR DrugBank; DB01173; Orphenadrine. DR DrugBank; DB00312; Pentobarbital. DR DrugBank; DB03575; Phencyclidine. DR DrugBank; DB01174; Phenobarbital. DR DrugBank; DB01708; Prasterone. DR DrugBank; DB00721; Procaine. DR DrugBank; DB00392; Profenamine. DR DrugBank; DB01549; Rolicyclidine. DR DrugBank; DB00418; Secobarbital. DR DrugBank; DB01520; Tenocyclidine. DR DrugBank; DB00193; Tramadol. DR DrugCentral; Q8TCU5; -. DR GlyCosmos; Q8TCU5; 10 sites, No reported glycans. DR GlyGen; Q8TCU5; 11 sites, 1 O-linked glycan (1 site). DR iPTMnet; Q8TCU5; -. DR PhosphoSitePlus; Q8TCU5; -. DR BioMuta; GRIN3A; -. DR DMDM; 212276445; -. DR MassIVE; Q8TCU5; -. DR PaxDb; 9606-ENSP00000355155; -. DR PeptideAtlas; Q8TCU5; -. DR ProteomicsDB; 74174; -. DR Antibodypedia; 54489; 42 antibodies from 11 providers. DR DNASU; 116443; -. DR Ensembl; ENST00000361820.6; ENSP00000355155.3; ENSG00000198785.7. DR GeneID; 116443; -. DR KEGG; hsa:116443; -. DR MANE-Select; ENST00000361820.6; ENSP00000355155.3; NM_133445.3; NP_597702.2. DR UCSC; uc004bbp.3; human. DR AGR; HGNC:16767; -. DR CTD; 116443; -. DR DisGeNET; 116443; -. DR GeneCards; GRIN3A; -. DR HGNC; HGNC:16767; GRIN3A. DR HPA; ENSG00000198785; Tissue enriched (brain). DR MIM; 606650; gene. DR neXtProt; NX_Q8TCU5; -. DR OpenTargets; ENSG00000198785; -. DR PharmGKB; PA28983; -. DR VEuPathDB; HostDB:ENSG00000198785; -. DR eggNOG; KOG1053; Eukaryota. DR GeneTree; ENSGT00940000158571; -. DR HOGENOM; CLU_002039_0_0_1; -. DR InParanoid; Q8TCU5; -. DR OMA; TIVMFGC; -. DR OrthoDB; 1034721at2759; -. DR PhylomeDB; Q8TCU5; -. DR TreeFam; TF314731; -. DR PathwayCommons; Q8TCU5; -. DR Reactome; R-HSA-9609736; Assembly and cell surface presentation of NMDA receptors. DR SignaLink; Q8TCU5; -. DR BioGRID-ORCS; 116443; 14 hits in 1158 CRISPR screens. DR ChiTaRS; GRIN3A; human. DR GeneWiki; GRIN3A; -. DR GenomeRNAi; 116443; -. DR Pharos; Q8TCU5; Tclin. DR PRO; PR:Q8TCU5; -. DR Proteomes; UP000005640; Chromosome 9. DR RNAct; Q8TCU5; Protein. DR Bgee; ENSG00000198785; Expressed in Brodmann (1909) area 46 and 118 other cell types or tissues. DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome. DR GO; GO:0098978; C:glutamatergic synapse; IEA:Ensembl. DR GO; GO:0016020; C:membrane; IDA:UniProtKB. DR GO; GO:0043005; C:neuron projection; IDA:UniProtKB. DR GO; GO:0043025; C:neuronal cell body; IDA:UniProtKB. DR GO; GO:0017146; C:NMDA selective glutamate receptor complex; IDA:UniProtKB. DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central. DR GO; GO:0098839; C:postsynaptic density membrane; IBA:GO_Central. DR GO; GO:0098793; C:presynapse; IEA:GOC. DR GO; GO:0045202; C:synapse; IDA:UniProtKB. DR GO; GO:0005262; F:calcium channel activity; IEA:Ensembl. DR GO; GO:0008066; F:glutamate receptor activity; IBA:GO_Central. DR GO; GO:0016594; F:glycine binding; IDA:UniProtKB. DR GO; GO:0042802; F:identical protein binding; IPI:UniProtKB. DR GO; GO:0004972; F:NMDA glutamate receptor activity; IDA:UniProtKB. DR GO; GO:0051721; F:protein phosphatase 2A binding; ISS:UniProtKB. DR GO; GO:1904315; F:transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential; IBA:GO_Central. DR GO; GO:0006816; P:calcium ion transport; ISS:UniProtKB. DR GO; GO:0016358; P:dendrite development; IEA:Ensembl. DR GO; GO:0035235; P:ionotropic glutamate receptor signaling pathway; IBA:GO_Central. DR GO; GO:0050804; P:modulation of chemical synaptic transmission; IBA:GO_Central. DR GO; GO:0061000; P:negative regulation of dendritic spine development; ISS:UniProtKB. DR GO; GO:0060134; P:prepulse inhibition; IEA:Ensembl. DR GO; GO:0099171; P:presynaptic modulation of chemical synaptic transmission; IEA:Ensembl. DR GO; GO:0045471; P:response to ethanol; IDA:UniProtKB. DR GO; GO:0048511; P:rhythmic process; IEA:Ensembl. DR GO; GO:0035249; P:synaptic transmission, glutamatergic; IBA:GO_Central. DR CDD; cd06377; PBP1_iGluR_NMDA_NR3; 1. DR CDD; cd13720; PBP2_iGluR_NMDA_Nr3; 1. DR Gene3D; 3.40.50.2300; -; 2. DR Gene3D; 3.40.190.10; Periplasmic binding protein-like II; 2. DR InterPro; IPR001828; ANF_lig-bd_rcpt. DR InterPro; IPR019594; Glu/Gly-bd. DR InterPro; IPR001508; Iono_Glu_rcpt_met. DR InterPro; IPR015683; Ionotropic_Glu_rcpt. DR InterPro; IPR001320; Iontro_rcpt_C. DR InterPro; IPR028082; Peripla_BP_I. DR InterPro; IPR001638; Solute-binding_3/MltF_N. DR PANTHER; PTHR18966:SF397; GLUTAMATE RECEPTOR IONOTROPIC, NMDA 3A; 1. DR PANTHER; PTHR18966; IONOTROPIC GLUTAMATE RECEPTOR; 1. DR Pfam; PF01094; ANF_receptor; 1. DR Pfam; PF00060; Lig_chan; 1. DR Pfam; PF10613; Lig_chan-Glu_bd; 1. DR Pfam; PF00497; SBP_bac_3; 1. DR PRINTS; PR00177; NMDARECEPTOR. DR SMART; SM00918; Lig_chan-Glu_bd; 1. DR SMART; SM00079; PBPe; 1. DR SUPFAM; SSF53822; Periplasmic binding protein-like I; 1. DR SUPFAM; SSF53850; Periplasmic binding protein-like II; 1. DR Genevisible; Q8TCU5; HS. PE 1: Evidence at protein level; KW Calcium; Cell membrane; Coiled coil; Glycoprotein; Ion channel; KW Ion transport; Ligand-gated ion channel; Magnesium; Membrane; KW Postsynaptic cell membrane; Receptor; Reference proteome; Signal; Synapse; KW Transmembrane; Transmembrane helix; Transport. FT SIGNAL 1..23 FT /evidence="ECO:0000255" FT CHAIN 24..1115 FT /note="Glutamate receptor ionotropic, NMDA 3A" FT /id="PRO_0000011568" FT TOPO_DOM 24..674 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 675..695 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 696..748 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT TRANSMEM 749..769 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 770..930 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 931..951 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 952..1115 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT REGION 59..118 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 951..987 FT /note="PPP2CB binding site" FT /evidence="ECO:0000250" FT REGION 1062..1095 FT /note="GIT1-binding" FT /evidence="ECO:0000250|UniProtKB:Q9R1M7" FT COILED 1058..1109 FT /evidence="ECO:0000255" FT CARBOHYD 145 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 264 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 275 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 285 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 296 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 426 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 439 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 549 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 565 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 886 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VARIANT 72 FT /note="S -> I (in dbSNP:rs558734093)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079892" FT VARIANT 111 FT /note="R -> G (found in a patient with autism spectrum FT disorder; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079893" FT VARIANT 116 FT /note="G -> S (in dbSNP:rs111415222)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079894" FT VARIANT 227..1115 FT /note="Missing" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079895" FT VARIANT 337 FT /note="R -> W (in dbSNP:rs773593066)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079896" FT VARIANT 362 FT /note="V -> M (in dbSNP:rs10989591)" FT /evidence="ECO:0000269|PubMed:11880201" FT /id="VAR_019672" FT VARIANT 373 FT /note="G -> R (found in a patient with autism spectrum FT disorder; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079897" FT VARIANT 375 FT /note="I -> T (in dbSNP:rs144427058)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079898" FT VARIANT 434 FT /note="S -> P (in dbSNP:rs776062103)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079899" FT VARIANT 480 FT /note="R -> H (in dbSNP:rs34755188)" FT /id="VAR_047150" FT VARIANT 487 FT /note="G -> R (in dbSNP:rs10989589)" FT /evidence="ECO:0000269|PubMed:11735224, FT ECO:0000269|PubMed:11880201" FT /id="VAR_019673" FT VARIANT 493 FT /note="Y -> F (in dbSNP:rs773322226)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079900" FT VARIANT 508..1115 FT /note="Missing (found in a patient with schizophrenia; FT likely pathogenic)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079901" FT VARIANT 565 FT /note="N -> S (in dbSNP:rs371244839)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079902" FT VARIANT 586 FT /note="K -> N (in dbSNP:rs142284927)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079903" FT VARIANT 641 FT /note="V -> L (found in a patient with autism spectrum FT disorder; uncertain significance; dbSNP:rs1360008284)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079904" FT VARIANT 793 FT /note="R -> S (in dbSNP:rs144770241)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079905" FT VARIANT 835 FT /note="D -> N (in dbSNP:rs10989563)" FT /evidence="ECO:0000269|PubMed:11880201" FT /id="VAR_019674" FT VARIANT 921 FT /note="T -> M (in dbSNP:rs144712629)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079906" FT VARIANT 956 FT /note="Y -> H (in dbSNP:rs141253502)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079907" FT VARIANT 1028 FT /note="I -> N (found in a patient with schizophrenia; FT uncertain significance; dbSNP:rs755464674)" FT /evidence="ECO:0000269|PubMed:22833210" FT /id="VAR_079908" FT VARIANT 1041 FT /note="R -> Q (in dbSNP:rs3739722)" FT /evidence="ECO:0000269|PubMed:11853319, FT ECO:0000269|PubMed:15489334" FT /id="VAR_019675" FT CONFLICT 559 FT /note="S -> N (in Ref. 1; AAL40734)" FT /evidence="ECO:0000305" FT CONFLICT 977 FT /note="Q -> R (in Ref. 1; AAL40734)" FT /evidence="ECO:0000305" FT CONFLICT 1073 FT /note="N -> I (in Ref. 1; AAL40734)" FT /evidence="ECO:0000305" SQ SEQUENCE 1115 AA; 125465 MW; 0FEEC995F6AAF940 CRC64; MRRLSLWWLL SRVCLLLPPP CALVLAGVPS SSSHPQPCQI LKRIGHAVRV GAVHLQPWTT APRAASRAPD DSRAGAQRDE PEPGTRRSPA PSPGARWLGS TLHGRGPPGS RKPGEGARAE ALWPRDALLF AVDNLNRVEG LLPYNLSLEV VMAIEAGLGD LPLLPFSSPS SPWSSDPFSF LQSVCHTVVV QGVSALLAFP QSQGEMMELD LVSLVLHIPV ISIVRHEFPR ESQNPLHLQL SLENSLSSDA DVTVSILTMN NWYNFSLLLC QEDWNITDFL LLTQNNSKFH LGSIINITAN LPSTQDLLSF LQIQLESIKN STPTVVMFGC DMESIRRIFE ITTQFGVMPP ELRWVLGDSQ NVEELRTEGL PLGLIAHGKT TQSVFEHYVQ DAMELVARAV ATATMIQPEL ALIPSTMNCM EVETTNLTSG QYLSRFLANT TFRGLSGSIR VKGSTIVSSE NNFFIWNLQH DPMGKPMWTR LGSWQGGKIV MDYGIWPEQA QRHKTHFQHP SKLHLRVVTL IEHPFVFTRE VDDEGLCPAG QLCLDPMTND SSTLDSLFSS LHSSNDTVPI KFKKCCYGYC IDLLEKIAED MNFDFDLYIV GDGKYGAWKN GHWTGLVGDL LRGTAHMAVT SFSINTARSQ VIDFTSPFFS TSLGILVRTR DTAAPIGAFM WPLHWTMWLG IFVALHITAV FLTLYEWKSP FGLTPKGRNR SKVFSFSSAL NICYALLFGR TVAIKPPKCW TGRFLMNLWA IFCMFCLSTY TANLAAVMVG EKIYEELSGI HDPKLHHPSQ GFRFGTVRES SAEDYVRQSF PEMHEYMRRY NVPATPDGVE YLKNDPEKLD AFIMDKALLD YEVSIDADCK LLTVGKPFAI EGYGIGLPPN SPLTANISEL ISQYKSHGFM DMLHDKWYRV VPCGKRSFAV TETLQMGIKH FSGLFVLLCI GFGLSILTTI GEHIVYRLLL PRIKNKSKLQ YWLHTSQRLH RAINTSFIEE KQQHFKTKRV EKRSNVGPRQ LTVWNTSNLS HDNRRKYIFS DEEGQNQLGI RIHQDIPLPP RRRELPALRT TNGKADSLNV SRNSVMQELS ELEKQIQVIR QELQLAVSRK TELEEYQRTS RTCES //