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CLRN1_HUMAN
ID   CLRN1_HUMAN             Reviewed;         232 AA.
AC   P58418; D3DNJ3; E1ACU9; Q8N6A9;
DT   05-DEC-2001, integrated into UniProtKB/Swiss-Prot.
DT   06-FEB-2007, sequence version 2.
DT   03-AUG-2022, entry version 161.
DE   RecName: Full=Clarin-1;
DE   AltName: Full=Usher syndrome type-3 protein;
GN   Name=CLRN1; Synonyms=USH3A;
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] (ISOFORM 2), AND VARIANTS USH3A LYS-120 AND
RP   153-ILE-LEU-154 DELINS MET.
RX   PubMed=11524702; DOI=10.1086/323610;
RA   Joensuu T., Haemaelaeinen R., Yuan B., Johnson C., Tegelberg S.,
RA   Gasparini P., Zelante L., Pirvola U., Pakarinen L., Lehesjoki A.-E.,
RA   de la Chapelle A., Sankila E.-M.;
RT   "Mutations in a novel gene with transmembrane domains underlie Usher
RT   syndrome type 3.";
RL   Am. J. Hum. Genet. 69:673-684(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS USH3A LYS-48 AND
RP   PRO-150.
RX   PubMed=12145752; DOI=10.1086/342098;
RA   Fields R.R., Zhou G., Huang D., Davis J.R., Moeller C., Jacobson S.G.,
RA   Kimberling W.J., Sumegi J.;
RT   "Usher syndrome type III: revised genomic structure of the USH3 gene and
RT   identification of novel mutations.";
RL   Am. J. Hum. Genet. 71:607-617(2002).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT USH3A LYS-48, AND FUNCTION.
RC   TISSUE=Retina;
RX   PubMed=12080385; DOI=10.1038/sj.ejhg.5200831;
RA   Adato A., Vreugde S., Joensuu T., Avidan N., Hamalainen R., Belenkiy O.,
RA   Olender T., Bonne-Tamir B., Ben-Asher E., Espinos C., Millan J.M.,
RA   Lehesjoki A.-E., Flannery J.G., Avraham K.B., Pietrokovski S.,
RA   Sankila E.-M., Beckmann J.S., Lancet D.;
RT   "USH3A transcripts encode clarin-1, a four-transmembrane-domain protein
RT   with a possible role in sensory synapses.";
RL   Eur. J. Hum. Genet. 10:339-350(2002).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), AND ALTERNATIVE SPLICING.
RC   TISSUE=Retina;
RX   PubMed=20717163; DOI=10.1038/ejhg.2010.140;
RA   Vastinsalo H., Jalkanen R., Dinculescu A., Isosomppi J., Geller S.,
RA   Flannery J.G., Hauswirth W.W., Sankila E.M.;
RT   "Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).";
RL   Eur. J. Hum. Genet. 19:30-35(2011).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16641997; DOI=10.1038/nature04728;
RA   Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA   Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA   Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA   Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA   Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA   Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA   Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA   Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA   Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA   Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA   Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA   Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA   Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA   Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA   Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA   Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA   Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA   Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA   Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
RN   [6]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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   [8]
RP   VARIANT USH3A GLY-40.
RX   PubMed=15521980; DOI=10.1111/j.1399-0004.2004.00352.x;
RA   Aller E., Jaijo T., Oltra S., Alio J., Galan F., Najera C., Beneyto M.,
RA   Millan J.M.;
RT   "Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher
RT   syndrome: low prevalence and phenotypic variability.";
RL   Clin. Genet. 66:525-529(2004).
RN   [9]
RP   VARIANT USH3A PRO-105.
RX   PubMed=18273898; DOI=10.1002/humu.9524;
RA   Dreyer B., Brox V., Tranebjaerg L., Rosenberg T., Sadeghi A.M., Moeller C.,
RA   Nilssen O.;
RT   "Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome
RT   type II.";
RL   Hum. Mutat. 29:451-451(2008).
RN   [10]
RP   VARIANTS RP61 LEU-31 AND TRP-154, CHARACTERIZATION OF VARIANTS RP61 LEU-31
RP   AND TRP-154, AND SUBCELLULAR LOCATION.
RX   PubMed=21310491; DOI=10.1016/j.ophtha.2010.10.047;
RA   Khan M.I., Kersten F.F., Azam M., Collin R.W., Hussain A., Shah S.T.,
RA   Keunen J.E., Kremer H., Cremers F.P., Qamar R., den Hollander A.I.;
RT   "CLRN1 mutations cause nonsyndromic retinitis pigmentosa.";
RL   Ophthalmology 118:1444-1448(2011).
RN   [11]
RP   VARIANT USH3A ASN-168.
RX   PubMed=23304067;
RA   Garcia-Garcia G., Aparisi M.J., Rodrigo R., Sequedo M.D., Espinos C.,
RA   Rosell J., Olea J.L., Mendivil M.P., Ramos-Arroyo M.A., Ayuso C., Jaijo T.,
RA   Aller E., Millan J.M.;
RT   "Two novel disease-causing mutations in the CLRN1 gene in patients with
RT   Usher syndrome type 3.";
RL   Mol. Vis. 18:3070-3078(2012).
CC   -!- FUNCTION: May have a role in the excitatory ribbon synapse junctions
CC       between hair cells and cochlear ganglion cells and presumably also in
CC       analogous synapses within the retina. {ECO:0000269|PubMed:12080385}.
CC   -!- INTERACTION:
CC       P58418; Q9BVK2: ALG8; NbExp=3; IntAct=EBI-17274839, EBI-3921603;
CC       P58418; Q6PL45-2: BRICD5; NbExp=3; IntAct=EBI-17274839, EBI-12244618;
CC       P58418; O14523: C2CD2L; NbExp=3; IntAct=EBI-17274839, EBI-12822627;
CC       P58418; Q8WVQ1: CANT1; NbExp=3; IntAct=EBI-17274839, EBI-16770554;
CC       P58418; Q8NHW4: CCL4L2; NbExp=3; IntAct=EBI-17274839, EBI-10271156;
CC       P58418; Q8N6F1-2: CLDN19; NbExp=3; IntAct=EBI-17274839, EBI-12256978;
CC       P58418; Q4LDR2: CTXN3; NbExp=3; IntAct=EBI-17274839, EBI-12019274;
CC       P58418; Q8N682: DRAM1; NbExp=3; IntAct=EBI-17274839, EBI-10305400;
CC       P58418; Q8N5W8: FAM24B; NbExp=3; IntAct=EBI-17274839, EBI-13383724;
CC       P58418; Q9Y231: FUT9; NbExp=3; IntAct=EBI-17274839, EBI-3922408;
CC       P58418; P11215: ITGAM; NbExp=3; IntAct=EBI-17274839, EBI-2568251;
CC       P58418; Q6N075: MFSD5; NbExp=3; IntAct=EBI-17274839, EBI-3920969;
CC       P58418; O14880: MGST3; NbExp=3; IntAct=EBI-17274839, EBI-724754;
CC       P58418; Q8IXM6: NRM; NbExp=3; IntAct=EBI-17274839, EBI-10262547;
CC       P58418; O75396: SEC22B; NbExp=3; IntAct=EBI-17274839, EBI-1058865;
CC       P58418; Q8N130: SLC34A3; NbExp=3; IntAct=EBI-17274839, EBI-17769653;
CC       P58418; Q9NV12: TMEM140; NbExp=3; IntAct=EBI-17274839, EBI-2844246;
CC       P58418; Q9BVK8: TMEM147; NbExp=3; IntAct=EBI-17274839, EBI-348587;
CC       P58418; Q9H0R3: TMEM222; NbExp=3; IntAct=EBI-17274839, EBI-347385;
CC       P58418; Q8WW34-2: TMEM239; NbExp=3; IntAct=EBI-17274839, EBI-11528917;
CC       P58418; P56557: TMEM50B; NbExp=3; IntAct=EBI-17274839, EBI-12366453;
CC       P58418; Q8N661: TMEM86B; NbExp=3; IntAct=EBI-17274839, EBI-2548832;
CC       P58418; Q6ZT21: TMPPE; NbExp=3; IntAct=EBI-17274839, EBI-11724433;
CC       P58418; Q9NRS4: TMPRSS4; NbExp=3; IntAct=EBI-17274839, EBI-10313040;
CC       P58418; Q53HI1: UNC50; NbExp=3; IntAct=EBI-17274839, EBI-7601760;
CC       P58418; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-17274839, EBI-12837904;
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21310491};
CC       Multi-pass membrane protein {ECO:0000255}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC         Comment=Additional isoforms seem to exist.;
CC       Name=1;
CC         IsoId=P58418-3; Sequence=Displayed;
CC       Name=2; Synonyms=A;
CC         IsoId=P58418-1; Sequence=VSP_022868, VSP_022869;
CC       Name=3; Synonyms=0-2-2b-3;
CC         IsoId=P58418-4; Sequence=VSP_043303;
CC   -!- TISSUE SPECIFICITY: Widely expressed. Found in the retina.
CC   -!- DISEASE: Usher syndrome 3A (USH3A) [MIM:276902]: USH is a genetically
CC       heterogeneous condition characterized by the association of retinitis
CC       pigmentosa with sensorineural deafness. Age at onset and differences in
CC       auditory and vestibular function distinguish Usher syndrome type 1
CC       (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3).
CC       USH3 is characterized by postlingual, progressive hearing loss,
CC       variable vestibular dysfunction, and onset of retinitis pigmentosa
CC       symptoms, including nyctalopia, constriction of the visual fields, and
CC       loss of central visual acuity, usually by the second decade of life.
CC       {ECO:0000269|PubMed:11524702, ECO:0000269|PubMed:12080385,
CC       ECO:0000269|PubMed:12145752, ECO:0000269|PubMed:15521980,
CC       ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:23304067}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- DISEASE: Retinitis pigmentosa 61 (RP61) [MIM:614180]: A retinal
CC       dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC       pigmentosa is characterized by retinal pigment deposits visible on
CC       fundus examination and primary loss of rod photoreceptor cells followed
CC       by secondary loss of cone photoreceptors. Patients typically have night
CC       vision blindness and loss of midperipheral visual field. As their
CC       condition progresses, they lose their far peripheral visual field and
CC       eventually central vision as well. {ECO:0000269|PubMed:21310491}.
CC       Note=The disease is caused by variants affecting the gene represented
CC       in this entry.
CC   -!- SIMILARITY: Belongs to the clarin family. {ECO:0000305}.
CC   -!- WEB RESOURCE: Name=Mutations of the USH3A gene; Note=Retina
CC       International's Scientific Newsletter;
CC       URL="https://www.retina-international.org/files/sci-news/ush3mut.htm";
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DR   EMBL; AF388366; AAL09581.1; -; mRNA.
DR   EMBL; AF482697; AAN07148.1; -; mRNA.
DR   EMBL; AF495717; AAM88774.1; -; mRNA.
DR   EMBL; HM626132; ADM63096.1; -; mRNA.
DR   EMBL; AC020636; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471052; EAW78814.1; -; Genomic_DNA.
DR   EMBL; CH471052; EAW78815.1; -; Genomic_DNA.
DR   EMBL; BC074970; AAH74970.1; -; mRNA.
DR   EMBL; BC074971; AAH74971.1; -; mRNA.
DR   CCDS; CCDS3153.1; -. [P58418-3]
DR   CCDS; CCDS35492.1; -. [P58418-1]
DR   CCDS; CCDS56285.1; -. [P58418-4]
DR   RefSeq; NP_001182723.1; NM_001195794.1. [P58418-4]
DR   RefSeq; NP_443721.1; NM_052995.2. [P58418-1]
DR   RefSeq; NP_777367.1; NM_174878.2. [P58418-3]
DR   AlphaFoldDB; P58418; -.
DR   BioGRID; 113244; 30.
DR   IntAct; P58418; 26.
DR   STRING; 9606.ENSP00000329158; -.
DR   TCDB; 9.A.46.1.1; the clarin (clrn) family.
DR   GlyGen; P58418; 1 site.
DR   iPTMnet; P58418; -.
DR   PhosphoSitePlus; P58418; -.
DR   BioMuta; CLRN1; -.
DR   DMDM; 125987806; -.
DR   PRIDE; P58418; -.
DR   ProteomicsDB; 57075; -. [P58418-1]
DR   Antibodypedia; 52945; 34 antibodies from 12 providers.
DR   DNASU; 7401; -.
DR   Ensembl; ENST00000295911.6; ENSP00000295911.2; ENSG00000163646.12. [P58418-1]
DR   Ensembl; ENST00000327047.6; ENSP00000322280.1; ENSG00000163646.12. [P58418-3]
DR   Ensembl; ENST00000328863.8; ENSP00000329158.4; ENSG00000163646.12. [P58418-4]
DR   GeneID; 7401; -.
DR   KEGG; hsa:7401; -.
DR   MANE-Select; ENST00000327047.6; ENSP00000322280.1; NM_174878.3; NP_777367.1.
DR   UCSC; uc003eyj.3; human. [P58418-3]
DR   CTD; 7401; -.
DR   DisGeNET; 7401; -.
DR   GeneCards; CLRN1; -.
DR   GeneReviews; CLRN1; -.
DR   HGNC; HGNC:12605; CLRN1.
DR   HPA; ENSG00000163646; Group enriched (adrenal gland, retina).
DR   MalaCards; CLRN1; -.
DR   MIM; 276902; phenotype.
DR   MIM; 606397; gene.
DR   MIM; 614180; phenotype.
DR   neXtProt; NX_P58418; -.
DR   OpenTargets; ENSG00000163646; -.
DR   Orphanet; 791; Retinitis pigmentosa.
DR   Orphanet; 231183; Usher syndrome type 3.
DR   PharmGKB; PA37231; -.
DR   VEuPathDB; HostDB:ENSG00000163646; -.
DR   eggNOG; ENOG502QQVB; Eukaryota.
DR   GeneTree; ENSGT00850000132319; -.
DR   HOGENOM; CLU_095723_0_0_1; -.
DR   InParanoid; P58418; -.
DR   OMA; AIGTQLW; -.
DR   OrthoDB; 1188976at2759; -.
DR   PhylomeDB; P58418; -.
DR   TreeFam; TF331875; -.
DR   PathwayCommons; P58418; -.
DR   SignaLink; P58418; -.
DR   BioGRID-ORCS; 7401; 8 hits in 1063 CRISPR screens.
DR   ChiTaRS; CLRN1; human.
DR   GeneWiki; CLRN1; -.
DR   GenomeRNAi; 7401; -.
DR   Pharos; P58418; Tbio.
DR   PRO; PR:P58418; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   RNAct; P58418; protein.
DR   Bgee; ENSG00000163646; Expressed in adrenal tissue and 44 other tissues.
DR   ExpressionAtlas; P58418; baseline and differential.
DR   Genevisible; P58418; HS.
DR   GO; GO:0045178; C:basal part of cell; IEA:Ensembl.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0030027; C:lamellipodium; IDA:MGI.
DR   GO; GO:0015630; C:microtubule cytoskeleton; IEA:Ensembl.
DR   GO; GO:0005902; C:microvillus; IDA:MGI.
DR   GO; GO:0005886; C:plasma membrane; IDA:MGI.
DR   GO; GO:0032420; C:stereocilium; IEA:Ensembl.
DR   GO; GO:0030140; C:trans-Golgi network transport vesicle; IEA:Ensembl.
DR   GO; GO:0007015; P:actin filament organization; IDA:MGI.
DR   GO; GO:0060088; P:auditory receptor cell stereocilium organization; IEA:Ensembl.
DR   GO; GO:0048870; P:cell motility; IDA:MGI.
DR   GO; GO:0050957; P:equilibrioception; IMP:HGNC-UCL.
DR   GO; GO:0045494; P:photoreceptor cell maintenance; IMP:HGNC-UCL.
DR   GO; GO:0010592; P:positive regulation of lamellipodium assembly; IDA:MGI.
DR   GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR   GO; GO:0050953; P:sensory perception of light stimulus; IMP:HGNC-UCL.
DR   GO; GO:0007605; P:sensory perception of sound; IMP:HGNC-UCL.
DR   GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR   InterPro; IPR026748; Clarin.
DR   PANTHER; PTHR31548; PTHR31548; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell membrane; Deafness; Disease variant;
KW   Glycoprotein; Hearing; Membrane; Reference proteome; Retinitis pigmentosa;
KW   Sensory transduction; Transmembrane; Transmembrane helix; Usher syndrome;
KW   Vision.
FT   CHAIN           1..232
FT                   /note="Clarin-1"
FT                   /id="PRO_0000065729"
FT   TRANSMEM        8..28
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        101..121
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        135..155
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        186..206
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        48
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         1..85
FT                   /note="MPSQQKKIIFCMAGVFSFACALGVVTALGTPLWIKATVLCKTGALLVNASGQ
FT                   ELDKFMGEMQYGLFHGEGVRQCGLGARPFRFSF -> MQALQQQPV (in isoform
FT                   2)"
FT                   /evidence="ECO:0000303|PubMed:11524702"
FT                   /id="VSP_022868"
FT   VAR_SEQ         144
FT                   /note="S -> SVALWLPATRHQAQ (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:20717163"
FT                   /id="VSP_043303"
FT   VAR_SEQ         191..232
FT                   /note="VIFFCFFVHFLNGLLIRLAGFQFPFAKSKDAETTNVAADLMY -> LTKGHS
FT                   (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:11524702"
FT                   /id="VSP_022869"
FT   VARIANT         7
FT                   /note="K -> I (in dbSNP:rs3796241)"
FT                   /id="VAR_053825"
FT   VARIANT         31
FT                   /note="P -> L (in RP61; the mutant protein is retained in
FT                   the endoplasmic reticulum; dbSNP:rs374390376)"
FT                   /evidence="ECO:0000269|PubMed:21310491"
FT                   /id="VAR_066673"
FT   VARIANT         40
FT                   /note="C -> G (in USH3A; dbSNP:rs121908143)"
FT                   /evidence="ECO:0000269|PubMed:15521980"
FT                   /id="VAR_054555"
FT   VARIANT         48
FT                   /note="N -> K (in USH3A; dbSNP:rs111033258)"
FT                   /evidence="ECO:0000269|PubMed:12080385,
FT                   ECO:0000269|PubMed:12145752"
FT                   /id="VAR_030345"
FT   VARIANT         105
FT                   /note="S -> P (in USH3A)"
FT                   /evidence="ECO:0000269|PubMed:18273898"
FT                   /id="VAR_054556"
FT   VARIANT         120
FT                   /note="M -> K (in USH3A; dbSNP:rs121908141)"
FT                   /evidence="ECO:0000269|PubMed:11524702"
FT                   /id="VAR_012241"
FT   VARIANT         150
FT                   /note="L -> P (in USH3A; dbSNP:rs121908142)"
FT                   /evidence="ECO:0000269|PubMed:12145752"
FT                   /id="VAR_030346"
FT   VARIANT         153..154
FT                   /note="IL -> M (in USH3A)"
FT                   /evidence="ECO:0000269|PubMed:11524702"
FT                   /id="VAR_012242"
FT   VARIANT         154
FT                   /note="L -> W (in RP61; the mutant protein is retained in
FT                   the endoplasmic reticulum; dbSNP:rs775098953)"
FT                   /evidence="ECO:0000269|PubMed:21310491"
FT                   /id="VAR_066674"
FT   VARIANT         168
FT                   /note="I -> N (in USH3A)"
FT                   /evidence="ECO:0000269|PubMed:23304067"
FT                   /id="VAR_071434"
SQ   SEQUENCE   232 AA;  25719 MW;  2713C621FEBE4281 CRC64;
     MPSQQKKIIF CMAGVFSFAC ALGVVTALGT PLWIKATVLC KTGALLVNAS GQELDKFMGE
     MQYGLFHGEG VRQCGLGARP FRFSFFPDLL KAIPVSIHVN VILFSAILIV LTMVGTAFFM
     YNAFGKPFET LHGPLGLYLL SFISGSCGCL VMILFASEVK IHHLSEKIAN YKEGTYVYKT
     QSEKYTTSFW VIFFCFFVHF LNGLLIRLAG FQFPFAKSKD AETTNVAADL MY
 
 
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