ARMC9_HUMAN
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 03-AUG-2022, entry version 146.
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};
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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; 22.
DR IntAct; Q7Z3E5; 4.
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; Q7Z3E5; -.
DR PeptideAtlas; Q7Z3E5; -.
DR PRIDE; Q7Z3E5; -.
DR ProteomicsDB; 69042; -. [Q7Z3E5-1]
DR ProteomicsDB; 69043; -. [Q7Z3E5-2]
DR Antibodypedia; 20202; 110 antibodies from 18 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 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; ALIFKAN; -.
DR OrthoDB; 1327587at2759; -.
DR PhylomeDB; Q7Z3E5; -.
DR TreeFam; TF317676; -.
DR PathwayCommons; Q7Z3E5; -.
DR SignaLink; Q7Z3E5; -.
DR BioGRID-ORCS; 80210; 13 hits in 1072 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 176 other tissues.
DR ExpressionAtlas; Q7Z3E5; baseline and differential.
DR Genevisible; Q7Z3E5; HS.
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; -; 1.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR040369; ARMC9.
DR InterPro; IPR006594; LisH.
DR PANTHER; PTHR14881; PTHR14881; 1.
DR SMART; SM00667; LisH; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
DR PROSITE; PS50896; LISH; 1.
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; unknown pathological
FT significance; dbSNP:rs750247691)"
FT /evidence="ECO:0000269|PubMed:28625504"
FT /id="VAR_080497"
FT VARIANT 87
FT /note="Missing (in JBTS30; unknown pathological
FT 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; unknown pathological
FT significance; dbSNP:rs759799287)"
FT /evidence="ECO:0000269|PubMed:28625504"
FT /id="VAR_080499"
FT VARIANT 446
FT /note="R -> C (in JBTS30; unknown pathological
FT significance; dbSNP:rs753432312)"
FT /evidence="ECO:0000269|PubMed:28625504"
FT /id="VAR_080500"
FT VARIANT 492
FT /note="G -> R (in JBTS30; unknown pathological
FT significance; dbSNP:rs780265931)"
FT /evidence="ECO:0000269|PubMed:28625504"
FT /id="VAR_080501"
FT VARIANT 520
FT /note="P -> L (in JBTS30; unknown pathological
FT significance; 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
