ID ARMC9_HUMAN Reviewed; 818 AA. AC Q7Z3E5; A0A087X1I8; Q53TI3; Q6P162; Q7L594; Q86WG2; Q96JF9; Q9H9R8; DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot. DT 28-MAR-2018, sequence version 3. DT 27-MAR-2024, entry version 155. DE RecName: Full=LisH domain-containing protein ARMC9; DE AltName: Full=Armadillo repeat-containing protein 9; DE AltName: Full=Melanoma/melanocyte-specific tumor antigen KU-MEL-1; DE AltName: Full=NS21; GN Name=ARMC9 {ECO:0000312|HGNC:HGNC:20730}; Synonyms=KIAA1868; 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 TISSUE SPECIFICITY. RX PubMed=11691810; RA Kiniwa Y., Fujita T., Akada M., Ito K., Shofuda T., Suzuki Y., Yamamoto A., RA Saida T., Kawakami Y.; RT "Tumor antigens isolated from a patient with vitiligo and T-cell- RT infiltrated melanoma."; RL Cancer Res. 61:7900-7907(2001). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). RA Chen J., Lu Y., Xie Y.; RT "Cloning and characterization of a novel ARM protein."; RL Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Esophageal carcinoma; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., RA Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., RA Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 and RT 4."; RL Nature 434:724-731(2005). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT PHE-108. RC TISSUE=Ovary, and Skin; 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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 36-818 (ISOFORM 2). 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 [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 356-818 (ISOFORM 1). RC TISSUE=Brain; RX PubMed=11347906; DOI=10.1093/dnares/8.2.85; RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XX. The RT complete sequences of 100 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 8:85-95(2001). RN [8] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-582, AND IDENTIFICATION BY RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21406692; DOI=10.1126/scisignal.2001570; RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.; RT "System-wide temporal characterization of the proteome and phosphoproteome RT of human embryonic stem cell differentiation."; RL Sci. Signal. 4:RS3-RS3(2011). RN [9] RP VARIANT ASN-330. RX PubMed=23033978; DOI=10.1056/nejmoa1206524; RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., RA Veltman J.A., Vissers L.E.; RT "Diagnostic exome sequencing in persons with severe intellectual RT disability."; RL N. Engl. J. Med. 367:1921-1929(2012). RN [10] RP SUBCELLULAR LOCATION, INDUCTION, INVOLVEMENT IN JBTS30, AND VARIANTS JBTS30 RP ARG-69; ARG-87 DEL; CYS-343; CYS-446; ARG-492 AND LEU-520. RX PubMed=28625504; DOI=10.1016/j.ajhg.2017.05.010; RA Van De Weghe J.C., Rusterholz T.D.S., Latour B., Grout M.E., Aldinger K.A., RA Shaheen R., Dempsey J.C., Maddirevula S., Cheng Y.H., Phelps I.G., RA Gesemann M., Goel H., Birk O.S., Alanzi T., Rawashdeh R., Khan A.O., RA Bamshad M.J., Nickerson D.A., Neuhauss S.C.F., Dobyns W.B., Alkuraya F.S., RA Roepman R., Bachmann-Gagescu R., Doherty D.; RT "Mutations in ARMC9, which encodes a basal body protein, cause Joubert RT syndrome in humans and ciliopathy phenotypes in zebrafish."; RL Am. J. Hum. Genet. 101:23-36(2017). RN [11] RP FUNCTION, AND INTERACTION WITH TOGARAM1; CCDC66; CEP104; CSPP1 AND CEP290. RX PubMed=32453716; DOI=10.1172/jci131656; RG University of Washington Center for Mendelian Genomics; RG Genomics England Research Consortium; RA Latour B.L., Van De Weghe J.C., Rusterholz T.D., Letteboer S.J., Gomez A., RA Shaheen R., Gesemann M., Karamzade A., Asadollahi M., Barroso-Gil M., RA Chitre M., Grout M.E., van Reeuwijk J., van Beersum S.E., Miller C.V., RA Dempsey J.C., Morsy H., Bamshad M.J., Nickerson D.A., Neuhauss S.C., RA Boldt K., Ueffing M., Keramatipour M., Sayer J.A., Alkuraya F.S., RA Bachmann-Gagescu R., Roepman R., Doherty D.; RT "Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert RT syndrome."; RL J. Clin. Invest. 130:4423-4439(2020). CC -!- FUNCTION: Involved in ciliogenesis (PubMed:32453716). It is required CC for appropriate acetylation and polyglutamylation of ciliary CC microtubules, and regulation of cilium length (PubMed:32453716). Acts CC as a positive regulator of hedgehog (Hh)signaling (By similarity). May CC participate in the trafficking and/or retention of GLI2 and GLI3 CC proteins at the ciliary tip (By similarity). CC {ECO:0000250|UniProtKB:E7F187, ECO:0000250|UniProtKB:Q9D2I5, CC ECO:0000269|PubMed:32453716}. CC -!- SUBUNIT: Interacts with TOGARAM1, CCDC66, CEP104, CSPP1 and CEP290. CC {ECO:0000269|PubMed:32453716}. CC -!- INTERACTION: CC Q7Z3E5-2; Q96DZ9: CMTM5; NbExp=3; IntAct=EBI-10256990, EBI-2548702; CC Q7Z3E5-2; Q9P2G9-2: KLHL8; NbExp=3; IntAct=EBI-10256990, EBI-11959635; CC Q7Z3E5-2; Q8IUQ4: SIAH1; NbExp=3; IntAct=EBI-10256990, EBI-747107; CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body CC {ECO:0000269|PubMed:28625504}. Cell projection, cilium CC {ECO:0000250|UniProtKB:Q9D2I5}. Cytoplasm, cytoskeleton, microtubule CC organizing center, centrosome, centriole {ECO:0000269|PubMed:28625504}. CC Note=Localized to the proximal region in cilia. Stimulation of Hh CC signaling leads to redistribution of ARMC9 toward the ciliary tip CC within 6 hours, follow by a gradual return to its original proximal CC location (By similarity). Localizes to the daughter centriole of the CC primary cilium in RPE1 cells (PubMed:28625504). CC {ECO:0000250|UniProtKB:Q9D2I5, ECO:0000269|PubMed:28625504}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q7Z3E5-1; Sequence=Displayed; CC Name=2; CC IsoId=Q7Z3E5-2; Sequence=VSP_023804; CC -!- TISSUE SPECIFICITY: Strongly expressed in most melanomas and CC melanocytes. Weakly expressed in the testis. CC {ECO:0000269|PubMed:11691810}. CC -!- INDUCTION: Up-regulated in response to serum starvation in fibroblasts. CC {ECO:0000269|PubMed:28625504}. CC -!- DISEASE: Joubert syndrome 30 (JBTS30) [MIM:617622]: A form of Joubert CC syndrome, a disorder presenting with cerebellar ataxia, oculomotor CC apraxia, hypotonia, neonatal breathing abnormalities and psychomotor CC delay. Neuroradiologically, it is characterized by cerebellar vermian CC hypoplasia/aplasia, thickened and reoriented superior cerebellar CC peduncles, and an abnormally large interpeduncular fossa, giving the CC appearance of a molar tooth on transaxial slices (molar tooth sign). CC Additional variable features include retinal dystrophy, renal disease, CC liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal CC recessive. {ECO:0000269|PubMed:28625504}. Note=The disease is caused by CC variants affecting the gene represented in this entry. CC -!- SEQUENCE CAUTION: CC Sequence=BAB14153.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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; AY929062; AAX22760.1; -; mRNA. DR EMBL; AY219922; AAO63554.1; -; mRNA. DR EMBL; BX537956; CAD97923.1; -; mRNA. DR EMBL; AC009407; AAX93129.1; -; Genomic_DNA. DR EMBL; AC018738; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF510794; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF510790; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF510793; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC004514; AAH04514.2; -; mRNA. DR EMBL; BC065271; AAH65271.1; -; mRNA. DR EMBL; AK022646; BAB14153.1; ALT_INIT; mRNA. DR EMBL; AB058771; BAB47497.1; -; mRNA. DR CCDS; CCDS74666.1; -. [Q7Z3E5-1] DR RefSeq; NP_001278585.1; NM_001291656.1. DR RefSeq; NP_079415.3; NM_025139.5. DR RefSeq; XP_011510213.1; XM_011511911.1. DR RefSeq; XP_016860512.1; XM_017005023.1. DR AlphaFoldDB; Q7Z3E5; -. DR SMR; Q7Z3E5; -. DR BioGRID; 123179; 24. DR IntAct; Q7Z3E5; 5. DR MINT; Q7Z3E5; -. DR STRING; 9606.ENSP00000484804; -. DR iPTMnet; Q7Z3E5; -. DR PhosphoSitePlus; Q7Z3E5; -. DR BioMuta; ARMC9; -. DR DMDM; 134035387; -. DR EPD; Q7Z3E5; -. DR jPOST; Q7Z3E5; -. DR MassIVE; Q7Z3E5; -. DR PaxDb; 9606-ENSP00000484804; -. DR PeptideAtlas; Q7Z3E5; -. DR ProteomicsDB; 69042; -. [Q7Z3E5-1] DR ProteomicsDB; 69043; -. [Q7Z3E5-2] DR Pumba; Q7Z3E5; -. DR Antibodypedia; 20202; 114 antibodies from 19 providers. DR DNASU; 80210; -. DR Ensembl; ENST00000611582.5; ENSP00000484804.1; ENSG00000135931.19. [Q7Z3E5-1] DR GeneID; 80210; -. DR KEGG; hsa:80210; -. DR MANE-Select; ENST00000611582.5; ENSP00000484804.1; NM_001352754.2; NP_001339683.2. DR UCSC; uc002vrq.6; human. [Q7Z3E5-1] DR UCSC; uc032ovg.1; human. DR AGR; HGNC:20730; -. DR CTD; 80210; -. DR DisGeNET; 80210; -. DR GeneCards; ARMC9; -. DR HGNC; HGNC:20730; ARMC9. DR HPA; ENSG00000135931; Tissue enhanced (retina). DR MalaCards; ARMC9; -. DR MIM; 617612; gene. DR MIM; 617622; phenotype. DR neXtProt; NX_Q7Z3E5; -. DR OpenTargets; ENSG00000135931; -. DR Orphanet; 475; Joubert syndrome. DR PharmGKB; PA142672581; -. DR VEuPathDB; HostDB:ENSG00000135931; -. DR eggNOG; ENOG502QQ9W; Eukaryota. DR GeneTree; ENSGT00390000018026; -. DR HOGENOM; CLU_007962_1_0_1; -. DR InParanoid; Q7Z3E5; -. DR OMA; CTSAFTC; -. DR OrthoDB; 1332898at2759; -. DR PhylomeDB; Q7Z3E5; -. DR TreeFam; TF317676; -. DR PathwayCommons; Q7Z3E5; -. DR SignaLink; Q7Z3E5; -. DR BioGRID-ORCS; 80210; 16 hits in 1150 CRISPR screens. DR ChiTaRS; ARMC9; human. DR GeneWiki; ARMC9; -. DR GenomeRNAi; 80210; -. DR Pharos; Q7Z3E5; Tbio. DR PRO; PR:Q7Z3E5; -. DR Proteomes; UP000005640; Chromosome 2. DR RNAct; Q7Z3E5; Protein. DR Bgee; ENSG00000135931; Expressed in stromal cell of endometrium and 178 other cell types or tissues. DR ExpressionAtlas; Q7Z3E5; baseline and differential. DR GO; GO:0005814; C:centriole; IDA:UniProtKB. DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB. DR GO; GO:0097542; C:ciliary tip; ISS:UniProtKB. DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW. DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB. DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB. DR GO; GO:0045880; P:positive regulation of smoothened signaling pathway; ISS:UniProtKB. DR Gene3D; 1.25.10.10; Leucine-rich Repeat Variant; 1. DR InterPro; IPR011989; ARM-like. DR InterPro; IPR016024; ARM-type_fold. DR InterPro; IPR040369; ARMC9. DR InterPro; IPR048959; ARMC9_ARM_dom. DR InterPro; IPR048957; ARMC9_LisH. DR InterPro; IPR006594; LisH. DR PANTHER; PTHR14881; LISH DOMAIN-CONTAINING PROTEIN ARMC9; 1. DR PANTHER; PTHR14881:SF4; LISH DOMAIN-CONTAINING PROTEIN ARMC9; 1. DR Pfam; PF21050; ARMC9_ARM; 1. DR Pfam; PF21051; ARMC9_LisH; 1. DR SMART; SM00667; LisH; 1. DR SUPFAM; SSF48371; ARM repeat; 1. DR PROSITE; PS50896; LISH; 1. DR Genevisible; Q7Z3E5; HS. PE 1: Evidence at protein level; KW Alternative splicing; Cell projection; Ciliopathy; KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoskeleton; KW Joubert syndrome; Phosphoprotein; Reference proteome. FT CHAIN 1..818 FT /note="LisH domain-containing protein ARMC9" FT /id="PRO_0000280595" FT DOMAIN 7..39 FT /note="LisH" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00126" FT REGION 642..755 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 790..818 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COILED 204..230 FT /evidence="ECO:0000255" FT COMPBIAS 790..812 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 582 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT VAR_SEQ 666..817 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:11691810, FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334, FT ECO:0000303|PubMed:17974005, ECO:0000303|Ref.2" FT /id="VSP_023804" FT VARIANT 69 FT /note="G -> R (in JBTS30; uncertain significance; FT dbSNP:rs750247691)" FT /evidence="ECO:0000269|PubMed:28625504" FT /id="VAR_080497" FT VARIANT 87 FT /note="Missing (in JBTS30; uncertain significance)" FT /evidence="ECO:0000269|PubMed:28625504" FT /id="VAR_080498" FT VARIANT 108 FT /note="L -> F (in dbSNP:rs11558175)" FT /evidence="ECO:0000269|PubMed:15489334" FT /id="VAR_031170" FT VARIANT 180 FT /note="I -> V (in dbSNP:rs1626450)" FT /id="VAR_056739" FT VARIANT 209 FT /note="I -> T (in dbSNP:rs16827883)" FT /id="VAR_031171" FT VARIANT 222 FT /note="R -> H (in dbSNP:rs3752780)" FT /id="VAR_031172" FT VARIANT 330 FT /note="D -> N" FT /evidence="ECO:0000269|PubMed:23033978" FT /id="VAR_069411" FT VARIANT 343 FT /note="R -> C (in JBTS30; uncertain significance; FT dbSNP:rs759799287)" FT /evidence="ECO:0000269|PubMed:28625504" FT /id="VAR_080499" FT VARIANT 446 FT /note="R -> C (in JBTS30; uncertain significance; FT dbSNP:rs753432312)" FT /evidence="ECO:0000269|PubMed:28625504" FT /id="VAR_080500" FT VARIANT 492 FT /note="G -> R (in JBTS30; uncertain significance; FT dbSNP:rs780265931)" FT /evidence="ECO:0000269|PubMed:28625504" FT /id="VAR_080501" FT VARIANT 520 FT /note="P -> L (in JBTS30; uncertain significance; FT dbSNP:rs1114167449)" FT /evidence="ECO:0000269|PubMed:28625504" FT /id="VAR_080502" FT CONFLICT 180 FT /note="I -> E (in Ref. 1; AAX22760, 2; AAO63554, 3; FT CAD97923, 5; AAH04514/AAH65271 and 6; BAB14153)" FT /evidence="ECO:0000305" FT CONFLICT 436 FT /note="L -> P (in Ref. 2; AAO63554)" FT /evidence="ECO:0000305" SQ SEQUENCE 818 AA; 91819 MW; DBF4284F71E9C746 CRC64; MGDILAHESE LLGLVKEYLD FAEFEDTLKT FSKECKIKGK PLCKTVGGSF RDSKSLTIQK DLVAAFDNGD QKVFFDLWEE HISSSIRDGD SFAQKLEFYL HIHFAIYLLK YSVGRPDKEE LDEKISYFKT YLETKGAALS QTTEFLPFYA LPFVPNPMVH PSFKELFQDS WTPELKLKLI KFLALISKAS NTPKLLTIYK ENGQSNKEIL QQLHQQLVEA ERRSVTYLKR YNKIQADYHN LIGVTAELVD SLEATVSGKM ITPEYLQSVC VRLFSNQMRQ SLAHSVDFTR PGTASTMLRA SLAPVKLKDV PLLPSLDYEK LKKDLILGSD RLKAFLLQAL RWRLTTSHPG EQRETVLQAY ISNDLLDCYS HNQRSVLQLL HSTSDVVRQY MARLINAFAS LAEGRLYLAQ NTKVLQMLEG RLKEEDKDII TRENVLGALQ KFSLRRPLQT AMIQDGLIFW LVDVLKDPDC LSDYTLEYSV ALLMNLCLRS TGKNMCAKVA GLVLKVLSDL LGHENHEIQP YVNGALYSIL SVPSIREEAR AMGMEDILRC FIKEGNAEMI RQIEFIIKQL NSEELPDGVL ESDDDEDEDD EEDHDIMEAD LDKDELIQPQ LGELSGEKLL TTEYLGIMTN TGKTRRKGLA NVQWSGDEPL QRPVTPGGHR NGYPVVEDQH TPPQTAQHAR NGHPQALPAA HEAVYREGKP STPESCVSSS SAIIAKPGEW LPRGRQEEPR PAPTGTPRQP REAPQDPGNG VTTRECASAF TCKPRAPCTP EMLDWNPPKA KASVLAPLFS SCGPQQASRP GSTASSTRGL PSSQSHRK //