ID DYH10_HUMAN Reviewed; 4471 AA. AC Q8IVF4; C9JMF5; O95495; Q6ZUC9; Q6ZUP6; Q8N761; DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot. DT 18-MAY-2010, sequence version 4. DT 27-MAR-2024, entry version 154. DE RecName: Full=Dynein axonemal heavy chain 10; DE AltName: Full=Axonemal beta dynein heavy chain 10; DE AltName: Full=Ciliary dynein heavy chain 10; GN Name=DNAH10; Synonyms=KIAA2017; 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 [LARGE SCALE GENOMIC DNA]. RX PubMed=16541075; DOI=10.1038/nature04569; RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., RA Gibbs R.A.; RT "The finished DNA sequence of human chromosome 12."; RL Nature 440:346-351(2006). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 155-4471 (ISOFORM 2), NUCLEOTIDE RP SEQUENCE [LARGE SCALE MRNA] OF 1487-2134 AND 2926-3760 (ISOFORM 1), AND RP VARIANT VAL-480. RC TISSUE=Brain, and Testis; 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 [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1421-4471 (ISOFORM 1). RC TISSUE=Brain; RA Nagase T., Kikuno R., Ohara O.; RT "The nucleotide sequence of a long cDNA clone isolated from human."; RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [MRNA] OF 1836-1936 (ISOFORM 1). RC TISSUE=Nasal polyp; RX PubMed=11175280; DOI=10.1038/sj.ejhg.5200555; RA Maiti A.K., Mattei M.-G., Jorissen M., Volz A., Zeigler A., Bouvagnet P.; RT "Identification, tissue specific expression, and chromosomal localisation RT of several human dynein heavy chain genes."; RL Eur. J. Hum. Genet. 8:923-932(2000). RN [5] RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-1074. RC TISSUE=Liver; RX PubMed=19159218; DOI=10.1021/pr8008012; RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.; RT "Glycoproteomics analysis of human liver tissue by combination of multiple RT enzyme digestion and hydrazide chemistry."; RL J. Proteome Res. 8:651-661(2009). RN [6] RP INVOLVEMENT IN SPGF56, FUNCTION, AND VARIANTS SPGF56 GLN-1888; MET-2534; RP CYS-3963 AND ARG-4280. RX PubMed=34237282; DOI=10.1016/j.ajhg.2021.06.010; RA Tu C., Cong J., Zhang Q., He X., Zheng R., Yang X., Gao Y., Wu H., Lv M., RA Gu Y., Lu S., Liu C., Tian S., Meng L., Wang W., Tan C., Nie H., Li D., RA Zhang H., Gong F., Hu L., Lu G., Xu W., Lin G., Zhang F., Cao Y., Tan Y.Q.; RT "Bi-allelic mutations of DNAH10 cause primary male infertility with RT asthenoteratozoospermia in humans and mice."; RL Am. J. Hum. Genet. 108:1466-1477(2021). CC -!- FUNCTION: Force generating protein of respiratory cilia. Produces force CC towards the minus ends of microtubules. Dynein has ATPase activity; the CC force-producing power stroke is thought to occur on release of ADP. CC Involved in sperm motility; implicated in sperm flagellar assembly CC (PubMed:34237282). Probable inner arm dynein heavy chain. {ECO:0000250, CC ECO:0000269|PubMed:34237282}. CC -!- SUBUNIT: Consists of at least two heavy chains and a number of CC intermediate and light chains. CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme CC {ECO:0000305}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q8IVF4-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8IVF4-2; Sequence=VSP_033518, VSP_033519; CC -!- TISSUE SPECIFICITY: Expressed primarily in trachea and testis, 2 CC tissues containing axonemal structures. Also expressed in brain but not CC in adult heart. CC -!- DOMAIN: Dynein heavy chains probably consist of an N-terminal stem CC (which binds cargo and interacts with other dynein components), and the CC head or motor domain. The motor contains six tandemly-linked AAA CC domains in the head, which form a ring. A stalk-like structure (formed CC by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 CC and terminates in a microtubule-binding site. A seventh domain may also CC contribute to this ring; it is not clear whether the N-terminus or the CC C-terminus forms this extra domain. There are four well-conserved and CC two non-conserved ATPase sites, one per AAA domain. Probably only one CC of these (within AAA 1) actually hydrolyzes ATP, the others may serve a CC regulatory function (By similarity). {ECO:0000250}. CC -!- DISEASE: Spermatogenic failure 56 (SPGF56) [MIM:619515]: An autosomal CC recessive male infertility disorder characterized by severely reduced CC sperm motility, due to multiple morphologic abnormalities of the CC flagella. {ECO:0000269|PubMed:34237282}. Note=The disease is caused by CC variants affecting the gene represented in this entry. CC -!- SIMILARITY: Belongs to the dynein heavy chain family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAC04579.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=BAC86296.1; 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; AC079315; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC117503; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AK095581; BAC04579.1; ALT_INIT; mRNA. DR EMBL; AK125475; BAC86173.1; -; mRNA. DR EMBL; AK125796; BAC86296.1; ALT_INIT; mRNA. DR EMBL; AB095937; BAC23113.2; -; mRNA. DR EMBL; AJ132089; CAA10562.1; -; mRNA. DR CCDS; CCDS9255.2; -. [Q8IVF4-1] DR RefSeq; NP_997320.2; NM_207437.3. [Q8IVF4-1] DR SMR; Q8IVF4; -. DR BioGRID; 128201; 24. DR IntAct; Q8IVF4; 12. DR STRING; 9606.ENSP00000489675; -. DR GlyCosmos; Q8IVF4; 2 sites, 2 glycans. DR GlyGen; Q8IVF4; 2 sites, 2 O-linked glycans (1 site). DR iPTMnet; Q8IVF4; -. DR PhosphoSitePlus; Q8IVF4; -. DR BioMuta; DNAH10; -. DR DMDM; 296439473; -. DR EPD; Q8IVF4; -. DR jPOST; Q8IVF4; -. DR MassIVE; Q8IVF4; -. DR MaxQB; Q8IVF4; -. DR PaxDb; 9606-ENSP00000386770; -. DR PeptideAtlas; Q8IVF4; -. DR ProteomicsDB; 70691; -. [Q8IVF4-1] DR ProteomicsDB; 70692; -. [Q8IVF4-2] DR Antibodypedia; 52600; 31 antibodies from 8 providers. DR DNASU; 196385; -. DR Ensembl; ENST00000638045.1; ENSP00000489675.1; ENSG00000197653.16. [Q8IVF4-1] DR GeneID; 196385; -. DR KEGG; hsa:196385; -. DR UCSC; uc001uft.5; human. [Q8IVF4-1] DR AGR; HGNC:2941; -. DR CTD; 196385; -. DR DisGeNET; 196385; -. DR GeneCards; DNAH10; -. DR HGNC; HGNC:2941; DNAH10. DR HPA; ENSG00000197653; Tissue enhanced (fallopian tube, testis). DR MalaCards; DNAH10; -. DR MIM; 605884; gene. DR MIM; 619515; phenotype. DR neXtProt; NX_Q8IVF4; -. DR OpenTargets; ENSG00000197653; -. DR Orphanet; 137893; Male infertility due to large-headed multiflagellar polyploid spermatozoa. DR Orphanet; 399805; Male infertility with azoospermia or oligozoospermia due to single gene mutation. DR PharmGKB; PA27395; -. DR VEuPathDB; HostDB:ENSG00000197653; -. DR eggNOG; KOG3595; Eukaryota. DR GeneTree; ENSGT00940000154642; -. DR HOGENOM; CLU_000038_9_1_1; -. DR InParanoid; Q8IVF4; -. DR OrthoDB; 166463at2759; -. DR PhylomeDB; Q8IVF4; -. DR TreeFam; TF316836; -. DR PathwayCommons; Q8IVF4; -. DR SignaLink; Q8IVF4; -. DR SIGNOR; Q8IVF4; -. DR BioGRID-ORCS; 196385; 26 hits in 1147 CRISPR screens. DR ChiTaRS; DNAH10; human. DR GenomeRNAi; 196385; -. DR Pharos; Q8IVF4; Tbio. DR PRO; PR:Q8IVF4; -. DR Proteomes; UP000005640; Chromosome 12. DR RNAct; Q8IVF4; Protein. DR Bgee; ENSG00000197653; Expressed in right uterine tube and 99 other cell types or tissues. DR ExpressionAtlas; Q8IVF4; baseline and differential. DR GO; GO:0097729; C:9+2 motile cilium; IBA:GO_Central. DR GO; GO:0005930; C:axoneme; IEA:UniProt. DR GO; GO:0030286; C:dynein complex; IBA:GO_Central. DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW. DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW. DR GO; GO:0016887; F:ATP hydrolysis activity; IEA:InterPro. DR GO; GO:0045505; F:dynein intermediate chain binding; IEA:InterPro. DR GO; GO:0051959; F:dynein light intermediate chain binding; IEA:InterPro. DR GO; GO:0008569; F:minus-end-directed microtubule motor activity; IBA:GO_Central. DR GO; GO:0060294; P:cilium movement involved in cell motility; IBA:GO_Central. DR Gene3D; 1.10.287.2620; -; 1. DR Gene3D; 1.10.472.130; -; 1. DR Gene3D; 1.10.8.1220; -; 1. DR Gene3D; 1.10.8.710; -; 1. DR Gene3D; 1.20.1270.280; -; 1. DR Gene3D; 1.20.58.1120; -; 1. DR Gene3D; 1.20.920.20; -; 1. DR Gene3D; 1.20.920.30; -; 1. DR Gene3D; 3.10.490.20; -; 1. DR Gene3D; 6.10.140.1060; -; 1. DR Gene3D; 1.20.140.100; Dynein heavy chain, N-terminal domain 2; 1. DR Gene3D; 3.20.180.20; Dynein heavy chain, N-terminal domain 2; 1. DR Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 5. DR Gene3D; 1.10.8.720; Region D6 of dynein motor; 1. DR InterPro; IPR003593; AAA+_ATPase. DR InterPro; IPR035699; AAA_6. DR InterPro; IPR035706; AAA_9. DR InterPro; IPR041658; AAA_lid_11. DR InterPro; IPR042219; AAA_lid_11_sf. DR InterPro; IPR026983; DHC_fam. DR InterPro; IPR041589; DNAH3_AAA_lid_1. DR InterPro; IPR042222; Dynein_2_N. DR InterPro; IPR043157; Dynein_AAA1S. DR InterPro; IPR041466; Dynein_AAA5_ext. DR InterPro; IPR041228; Dynein_C. DR InterPro; IPR043160; Dynein_C_barrel. DR InterPro; IPR024743; Dynein_HC_stalk. DR InterPro; IPR024317; Dynein_heavy_chain_D4_dom. DR InterPro; IPR004273; Dynein_heavy_D6_P-loop. DR InterPro; IPR013602; Dynein_heavy_linker. DR InterPro; IPR013594; Dynein_heavy_tail. DR InterPro; IPR042228; Dynein_linker_3. DR InterPro; IPR027417; P-loop_NTPase. DR PANTHER; PTHR10676:SF343; DYNEIN AXONEMAL HEAVY CHAIN 10; 1. DR PANTHER; PTHR10676; DYNEIN HEAVY CHAIN FAMILY PROTEIN; 1. DR Pfam; PF12774; AAA_6; 1. DR Pfam; PF12775; AAA_7; 1. DR Pfam; PF12780; AAA_8; 1. DR Pfam; PF12781; AAA_9; 1. DR Pfam; PF17857; AAA_lid_1; 1. DR Pfam; PF18198; AAA_lid_11; 1. DR Pfam; PF08385; DHC_N1; 2. DR Pfam; PF08393; DHC_N2; 1. DR Pfam; PF17852; Dynein_AAA_lid; 1. DR Pfam; PF18199; Dynein_C; 1. DR Pfam; PF03028; Dynein_heavy; 1. DR Pfam; PF12777; MT; 1. DR SMART; SM00382; AAA; 3. DR SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 4. DR Genevisible; Q8IVF4; HS. PE 1: Evidence at protein level; KW Alternative splicing; ATP-binding; Cell projection; Cilium; Coiled coil; KW Cytoplasm; Cytoskeleton; Disease variant; Dynein; Glycoprotein; KW Microtubule; Motor protein; Nucleotide-binding; Reference proteome; Repeat; KW TPR repeat. FT CHAIN 1..4471 FT /note="Dynein axonemal heavy chain 10" FT /id="PRO_0000318938" FT REPEAT 1221..1254 FT /note="TPR 1" FT REPEAT 2736..2769 FT /note="TPR 2" FT REPEAT 2771..2797 FT /note="TPR 3" FT REPEAT 3802..3837 FT /note="TPR 4" FT REPEAT 4074..4108 FT /note="TPR 5" FT REGION 1..1793 FT /note="Stem" FT /evidence="ECO:0000250" FT REGION 46..65 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 1794..2015 FT /note="AAA 1" FT /evidence="ECO:0000250" FT REGION 2075..2294 FT /note="AAA 2" FT /evidence="ECO:0000250" FT REGION 2417..2665 FT /note="AAA 3" FT /evidence="ECO:0000250" FT REGION 2765..3014 FT /note="AAA 4" FT /evidence="ECO:0000250" FT REGION 3029..3313 FT /note="Stalk" FT /evidence="ECO:0000250" FT REGION 3399..3629 FT /note="AAA 5" FT /evidence="ECO:0000250" FT REGION 3845..4062 FT /note="AAA 6" FT /evidence="ECO:0000250" FT COILED 203..223 FT /evidence="ECO:0000255" FT COILED 602..622 FT /evidence="ECO:0000255" FT COILED 1071..1106 FT /evidence="ECO:0000255" FT COILED 1217..1245 FT /evidence="ECO:0000255" FT COILED 2747..2770 FT /evidence="ECO:0000255" FT COILED 3045..3131 FT /evidence="ECO:0000255" FT COILED 3257..3327 FT /evidence="ECO:0000255" FT COILED 3567..3638 FT /evidence="ECO:0000255" FT COILED 4235..4260 FT /evidence="ECO:0000255" FT MOTIF 1832..1839 FT /note="GPAGTGKT motif" FT MOTIF 1882..1888 FT /note="CFDEFNR motif" FT COMPBIAS 51..65 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT BINDING 1832..1839 FT /ligand="ATP" FT /ligand_id="ChEBI:CHEBI:30616" FT /evidence="ECO:0000255" FT BINDING 2113..2120 FT /ligand="ATP" FT /ligand_id="ChEBI:CHEBI:30616" FT /evidence="ECO:0000255" FT BINDING 2455..2462 FT /ligand="ATP" FT /ligand_id="ChEBI:CHEBI:30616" FT /evidence="ECO:0000255" FT BINDING 2803..2810 FT /ligand="ATP" FT /ligand_id="ChEBI:CHEBI:30616" FT /evidence="ECO:0000255" FT CARBOHYD 1074 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000269|PubMed:19159218" FT VAR_SEQ 1090..1095 FT /note="HLAKNL -> VLNRCV (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_033518" FT VAR_SEQ 1096..4471 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_033519" FT VARIANT 167 FT /note="S -> P (in dbSNP:rs11057353)" FT /id="VAR_060135" FT VARIANT 480 FT /note="I -> V (in dbSNP:rs10846559)" FT /evidence="ECO:0000269|PubMed:14702039" FT /id="VAR_038916" FT VARIANT 1724 FT /note="T -> M (in dbSNP:rs34934281)" FT /id="VAR_060136" FT VARIANT 1767 FT /note="D -> E (in dbSNP:rs7969937)" FT /id="VAR_060137" FT VARIANT 1865 FT /note="R -> K (in dbSNP:rs35685787)" FT /id="VAR_060138" FT VARIANT 1888 FT /note="R -> Q (in SPGF56; uncertain significance; FT dbSNP:rs369904884)" FT /evidence="ECO:0000269|PubMed:34237282" FT /id="VAR_086228" FT VARIANT 1986 FT /note="T -> M (in dbSNP:rs33935373)" FT /id="VAR_062177" FT VARIANT 2403 FT /note="R -> W (in dbSNP:rs7977449)" FT /id="VAR_060139" FT VARIANT 2483 FT /note="N -> S (in dbSNP:rs11835416)" FT /id="VAR_060140" FT VARIANT 2534 FT /note="T -> M (in SPGF56; uncertain significance; FT dbSNP:rs764317091)" FT /evidence="ECO:0000269|PubMed:34237282" FT /id="VAR_086229" FT VARIANT 3963 FT /note="R -> C (in SPGF56; uncertain significance; FT dbSNP:rs755346965)" FT /evidence="ECO:0000269|PubMed:34237282" FT /id="VAR_086230" FT VARIANT 4280 FT /note="G -> R (in SPGF56; dbSNP:rs759073156)" FT /evidence="ECO:0000269|PubMed:34237282" FT /id="VAR_086231" FT CONFLICT 1631 FT /note="L -> V (in Ref. 2; BAC86296 and 3; BAC23113)" FT /evidence="ECO:0000305" FT CONFLICT 2046 FT /note="F -> L (in Ref. 2; BAC86296)" FT /evidence="ECO:0000305" FT CONFLICT 2132..2134 FT /note="KLG -> NLS (in Ref. 2; BAC86296)" FT /evidence="ECO:0000305" SQ SEQUENCE 4471 AA; 514841 MW; 85D09303637E7D5C CRC64; MVPEEVEVEI DEIPVLSEEG EEEEETYSQK VESVDKVRAK RVSLRTESLG QPLNREDEEM DKEISEKLPS KRTAKHIMEK MHLHMLCTPL PEEFLDQNVV FFLRNTKEAI SEATDMKEAM EIMPETLEYG IINANVLHFL KNIICQVFLP ALSFNQHRTS TTVGVTSGEV SNSSEHESDL PPMPGEAVEY HSIQLIRDEF LMNVQKFASN IQRTMQQLEG EIKLEMPIIS VEGEVSDLAA DPETVDILEQ CVINWLNQIS TAVEAQLKKT PQGKGPLAEI EFWRERNATL SALHEQTKLP IVRKVLDVIK ESDSMLVANL QPVFTELFKF HTEASDNVRF LSTVERYFKN ITHGSGFHVV LDTIPAMMSA LRMVWIISRH YNKDERMIPL MERIAWEIAE RVCRVVNLRT LFKENRASAQ SKTLEARNTL RLWKKAYFDT RAKIEASGRE DRWEFDRKRL FERTDYMATI CQDLSDVLQI LEEFYNIFGP ELKAVTGDPK RIDDVLCRVD GLVTPMENLT FDPFSIKSSQ FWKYVMDEFK IEVLIDIINK IFVQNLENPP LYKNHPPVAG AIYWERSLFF RIKHTILRFQ EVQEILDSDR GQEVKQKYLE VGRTMKEYED RKYEQWMEVT EQVLPALMKK SLLTKSSIAT EEPSTLERGA VFAINFSPAL REIINETKYL EQLGFTVPEL ARNVALQEDK FLRYTAGIQR MLDHYHMLIG TLNDAESVLL KDHSQELLRV FRSGYKRLNW NSLGIGDYIT GCKQAIGKFE SLVHQIHKNA DDISSRLTLI EAINLFKYPA AKSEEELPGV KEFFEHIERE RASDVDHMVR WYLAIGPLLT KVEGLVVHTN TGKAPKLASY YKYWEKKIYE VLTKLILKNL QSFNSLILGN VPLFHTETIL TAPEIILHPN TNEIDKMCFH CVRNCVEITK HFVRWMNGSC IECPPQKGEE EEVVIINFYN DISLNPQIIE QAVMIPQNVH RILINLMKYL QKWKRYRPLW KLDKAIVMEK FAAKKPPCVA YDEKLQFYSK IAYEVMRHPL IKDEHCIRLQ LRHLANTVQE NAKSWVISLG KLLNESAKEE LYNLHEEMEH LAKNLRKIPN TLEDLKFVLA TIAEIRSKSL VMELRYRDVQ ERYRTMAMYN LFPPDAEKEL VDKIESIWSN LFNDSVNVEH ALGDIKRTFT ELTRGEIMNY RVQIEEFAKR FYSEGPGSVG DDLDKGVELL GVYERELARH EKSRQELANA EKLFDLPITM YPELLKVQKE MSGLRMIYEL YEGLKVAKEE WSQTLWINLN VQILQEGIEG FLRALRKLPR PVRGLSVTYY LEAKMKAFKD SIPLLLDLKN EALRDRHWKE LMEKTSVFFE MTETFTLENM FAMELHKHTD VLNEIVTAAI KEVAIEKAVK EILDTWENMK FTVVKYCKGT QERGYILGSV DEIIQSLDDN TFNLQSISGS RFVGPFLQTV HKWEKTLSLI GEVIEIWMLV QRKWMYLESI FIGGDIRSQL PEEAKKFDNI DKVFKRIMGE TLKDPVIKRC CEAPNRLSDL QNVSEGLEKC QKSLNDYLDS KRNAFPRFFF ISDDELLSIL GSSDPLCVQE HMIKMYDNIA SLRFNDGDSG EKLVSAMISA EGEVMEFRKI LRAEGRVEDW MTAVLNEMRR TNRLITKEAI FRYCEDRSRV DWMLLYQGMV VLAASQVWWT WEVEDVFHKA QKGEKQAMKN YGRKMHRQID ELVTRITMPL SKNDRKKYNT VLIIDVHARD IVDSFIRGSI LEAREFDWES QLRFYWDREP DELNIRQCTG TFGYGYEYMG LNGRLVITPL TDRIYLTLTQ ALSMYLGGAP AGPAGTGKTE TTKDLAKALG LLCVVTNCGE GMDYRAVGKI FSGLAQCGAW GCFDEFNRID ASVLSVISSQ IQTIRNALIH QLTTFQFEGQ EISLDSRMGI FITMNPGYAG RTELPESVKA LFRPVVVIVP DLQQICEIML FSEGFLEAKT LAKKMTVLYK LAREQLSKQY HYDFGLRALK SVLVMAGELK RGSSDLREDV VLMRALRDMN LPKFVFEDVP LFLGLISDLF PGLDCPRVRY PDFNDAVEQV LEENGYAVLP IQVDKVVQMF ETMLTRHTTM VVGPTRGGKS VVINTLCQAQ TKLGLTTKLY ILNPKAVSVI ELYGILDPTT RDWTDGVLSN IFREINKPTD KKERKYILFD GDVDALWVEN MNSVMDDNRL LTLANGERIR LQAHCALLFE VGDLQYASPA TVSRCGMVYV DPKNLKYRPY WKKWVNQIPN KVEQYNLNSL FEKYVPYLMD VIVEGIVDGR QAEKLKTIVP QTDLNMVTQL AKMLDALLEG EIEDLDLLEC YFLEALYCSL GASLLEDGRM KFDEYIKRLA SLSTVDTEGV WANPGELPGQ LPTLYDFHFD NKRNQWVPWS KLVPEYIHAP ERKFINILVH TVDTTRTTWI LEQMVKIKQP VIFVGESGTS KTATTQNFLK NLSEETNIVL MVNFSSRTTS MDIQRNLEAN VEKRTKDTYG PPMGKRLLVF MDDMNMPRVD EYGTQQPIAL LKLLLEKGYL YDRGKELNCK SIRDLGFIAA MGKAGGGRNE VDPRFISLFS VFNVPFPSEE SLHLIYSSIL KGHTSTFHES IVAVSGKLTF CTLALYKNIV QDLPPTPSKF HYIFNLRDLS RVFNGLVLTN PERFQTVAQM VRVWRNECLR VFHDRLISET DKQLVQQHIG SLVVEHFKDD VEVVMRDPIL FGDFQMALHE GEPRIYEDIQ DYEAAKALFQ EILEEYNESN TKMNLVLFDD ALEHLTRVHR IIRMDRGHAL LVGVGGSGKQ SLSRLAAFTA SCEVFEILLS RGYSENSFRE DLKSLYLKLG IENKAMIFLF TDAHVAEEGF LELINNMLTS GIVPALFSEE EKESILSQIG QEALKQGMGP AKESVWQYFV NKSANNLHIV LGMSPVGDTL RTWCRNFPGM VNNTGIDWFM PWPPQALHAV AKSFLGYNPM IPAENIENVV KHVVLVHQSV DHYSQQFLQK LRRSNYVTPK NYLDFINTYS KLLDEKTQCN IAQCKRLDGG LDKLKEATIQ LDELNQKLAE QKIVLAEKSA ACEALLEEIA VNTAVAEEKK KLAEEKAMEI EEQNKVIAME KAEAETTLAE VMPILEAAKL ELQKLDKSDV TEIRSFAKPP KQVQTVCECI LIMKGYKELN WKTAKGVMSD PNFLRSLMEI DFDSITQSQV KNIKGLLKTL NTTTEEMEAV SKAGLGMLKF VEAVMGYCDV FREIKPKREK VARLERNFYL TKRELERIQN ELAAIQKELE TLGAKYEAAI LEKQKLQEEA EIMERRLIAA DKLISGLGSE NIRWLNDLDE LMHRRVKLLG DCLLCAAFLS YEGAFTWEFR DEMVNRIWQN DILEREIPLS QPFRLESLLT DDVEISRWGS QGLPPDELSV QNGILTTRAS RFPLCIDPQQ QALNWIKRKE EKNNLRVASF NDPDFLKQLE MSIKYGTPFL FRDVDEYIDP VIDNVLEKNI KVSQGRQFII LGDKEVDYDS NFRLYLNTKL ANPRYSPSVF GKAMVINYTV TLKGLEDQLL SVLVAYERRE LEEQREHLIQ ETSENKNLLK DLEDSLLREL ATSTGNMLDN VDLVHTLEET KSKATEVSEK LKLAEKTALD IDRLRDGYRP AARRGAILFF VLSEMALVNS MYQYSLIAFL EVFRLSLKKS LPDSILMKRL RNIMDTLTFS IYNHGCTGLF ERHKLLFSFN MTIKIEQAEG RVPQEELDFF LKGNISLEKS KRKKPCAWLS DQGWEDIILL SEMFSDNFGQ LPDDVENNQT VWQEWYDLDS LEQFPVPLGY DNNITPFQKL LILRCFRVDR VYRAVTDYVT VTMGEKYVQP PMISFEAIFE QSTPHSPIVF ILSPGSDPAT DLMKLAERSG FGGNRLKFLA MGQGQEKVAL QLLETAVARG QWLMLQNCHL LVKWLKDLEK SLERITKPHP DFRLWLTTDP TKGFPIGILQ KSLKVVTEPP NGLKLNMRAT YFKISHEMLD QCPHPAFKPL VYVLAFFHAV VQERRKFGKI GWNVYYDFNE SDFQVCMEIL NTYLTKAFQQ RDPRIPWGSL KYLIGEVMYG GRAIDSFDRR ILTIYMDEYL GDFIFDTFQP FHFFRNKEVD YKIPVGDEKE KFVEAIEALP LANTPEVFGL HPNAEIGYYT QAARDMWAHL LELQPQTGES SSGISRDDYI GQVAKEIENK MPKVFDLDQV RKRLGTGLSP TSVVLLQELE RFNKLVVRMT KSLAELQRAL AGEVGMSNEL DDVARSLFIG HIPNIWRRLA PDTLKSLGNW MVYFLRRFSQ YMLWVTESEP SVMWLSGLHI PESYLTALVQ ATCRKNGWPL DRSTLFTQVT KFQDADEVNE RAGQGCFVSG LYLEGADWDI EKGCLIKSKP KVLVVDLPIL KIIPIEAHRL KLQNTFRTPV YTTSMRRNAM GVGLVFEADL FTTRHISHWV LQGVCLTLNS D //