DYH10_HUMAN
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 03-AUG-2022, entry version 145.
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};
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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; 18.
DR IntAct; Q8IVF4; 8.
DR STRING; 9606.ENSP00000386770; -.
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; Q8IVF4; -.
DR PeptideAtlas; Q8IVF4; -.
DR PRIDE; Q8IVF4; -.
DR ProteomicsDB; 70691; -. [Q8IVF4-1]
DR ProteomicsDB; 70692; -. [Q8IVF4-2]
DR Antibodypedia; 52600; 18 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 CTD; 196385; -.
DR DisGeNET; 196385; -.
DR GeneCards; DNAH10; -.
DR HGNC; HGNC:2941; DNAH10.
DR HPA; ENSG00000197653; Tissue enhanced (brain, fallopian tube, testis).
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 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; 1492at2759; -.
DR PhylomeDB; Q8IVF4; -.
DR TreeFam; TF316836; -.
DR PathwayCommons; Q8IVF4; -.
DR SignaLink; Q8IVF4; -.
DR SIGNOR; Q8IVF4; -.
DR BioGRID-ORCS; 196385; 21 hits in 1069 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 97 other tissues.
DR ExpressionAtlas; Q8IVF4; baseline and differential.
DR Genevisible; Q8IVF4; HS.
DR GO; GO:0097729; C:9+2 motile cilium; IEA:UniProt.
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:0045505; F:dynein intermediate chain binding; IBA:GO_Central.
DR GO; GO:0051959; F:dynein light intermediate chain binding; IBA:GO_Central.
DR GO; GO:0008569; F:minus-end-directed microtubule motor activity; IBA:GO_Central.
DR GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central.
DR Gene3D; 1.10.8.710; -; 1.
DR Gene3D; 1.10.8.720; -; 1.
DR Gene3D; 1.20.140.100; -; 1.
DR Gene3D; 3.10.490.20; -; 1.
DR Gene3D; 3.20.180.20; -; 1.
DR Gene3D; 3.40.50.300; -; 5.
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; 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 Pfam; PF12774; AAA_6; 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; SSF52540; 4.
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; unknown pathological
FT significance)"
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; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:34237282"
FT /id="VAR_086229"
FT VARIANT 3963
FT /note="R -> C (in SPGF56; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:34237282"
FT /id="VAR_086230"
FT VARIANT 4280
FT /note="G -> R (in SPGF56)"
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
