SPA5L_HUMAN
ID SPA5L_HUMAN Reviewed; 753 AA.
AC Q9BVQ7; C9JHR5; Q9H8W7; Q9HA41;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 23-MAR-2010, sequence version 2.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Ribosome biogenesis protein SPATA5L1 {ECO:0000305};
DE EC=3.6.4.10 {ECO:0000250|UniProtKB:P32794};
DE AltName: Full=Spermatogenesis-associated protein 5-like protein 1;
GN Name=SPATA5L1 {ECO:0000303|PubMed:34626583, ECO:0000312|HGNC:HGNC:28762};
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 MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP GLN-252.
RC TISSUE=Mammary gland;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLN-252.
RC TISSUE=Cervix;
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 [4]
RP SUBCELLULAR LOCATION.
RX PubMed=18445686; DOI=10.1242/jcs.019174;
RA Tegha-Dunghu J., Neumann B., Reber S., Krause R., Erfle H., Walter T.,
RA Held M., Rogers P., Hupfeld K., Ruppert T., Ellenberg J., Gruss O.J.;
RT "EML3 is a nuclear microtubule-binding protein required for the correct
RT alignment of chromosomes in metaphase.";
RL J. Cell Sci. 121:1718-1726(2008).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [7]
RP INVOLVEMENT IN DFNB119, INVOLVEMENT IN NEDHLS, VARIANTS DFNB119 VAL-176 AND
RP MET-466, VARIANTS NEDHLS ALA-26; GLY-29; PRO-41; TRP-64; TYR-66; LEU-71;
RP HIS-172; GLU-245; SER-360; GLU-364; ILE-400; PRO-438; ASP-519; SER-561;
RP 609-SER--ILE-753 DEL; 640-ARG--ILE-753 DEL; LYS-658; ARG-669 AND VAL-689,
RP AND TISSUE SPECIFICITY.
RX PubMed=34626583; DOI=10.1016/j.ajhg.2021.08.003;
RA Richard E.M., Bakhtiari S., Marsh A.P.L., Kaiyrzhanov R., Wagner M.,
RA Shetty S., Pagnozzi A., Nordlie S.M., Guida B.S., Cornejo P., Magee H.,
RA Liu J., Norton B.Y., Webster R.I., Worgan L., Hakonarson H., Li J., Guo Y.,
RA Jain M., Blesson A., Rodan L.H., Abbott M.A., Comi A., Cohen J.S.,
RA Alhaddad B., Meitinger T., Lenz D., Ziegler A., Kotzaeridou U., Brunet T.,
RA Chassevent A., Smith-Hicks C., Ekstein J., Weiden T., Hahn A.,
RA Zharkinbekova N., Turnpenny P., Tucci A., Yelton M., Horvath R., Gungor S.,
RA Hiz S., Oktay Y., Lochmuller H., Zollino M., Morleo M., Marangi G.,
RA Nigro V., Torella A., Pinelli M., Amenta S., Husain R.A., Grossmann B.,
RA Rapp M., Steen C., Marquardt I., Grimmel M., Grasshoff U., Korenke G.C.,
RA Owczarek-Lipska M., Neidhardt J., Radio F.C., Mancini C.,
RA Claps Sepulveda D.J., McWalter K., Begtrup A., Crunk A.,
RA Guillen Sacoto M.J., Person R., Schnur R.E., Mancardi M.M., Kreuder F.,
RA Striano P., Zara F., Chung W.K., Marks W.A., van Eyk C.L., Webber D.L.,
RA Corbett M.A., Harper K., Berry J.G., MacLennan A.H., Gecz J., Tartaglia M.,
RA Salpietro V., Christodoulou J., Kaslin J., Padilla-Lopez S., Bilguvar K.,
RA Munchau A., Ahmed Z.M., Hufnagel R.B., Fahey M.C., Maroofian R.,
RA Houlden H., Sticht H., Mane S.M., Rad A., Vona B., Jin S.C., Haack T.B.,
RA Makowski C., Hirsch Y., Riazuddin S., Kruer M.C.;
RT "Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-
RT dystonic cerebral palsy, epilepsy, and hearing loss.";
RL Am. J. Hum. Genet. 108:2006-2016(2021).
RN [8]
RP FUNCTION, INTERACTION WITH C1ORF109, AND INTERACTION WITH PRE-60S RIBOSOMAL
RP PARTICLES.
RX PubMed=35354024; DOI=10.1016/j.celrep.2022.110597;
RA Ni C., Schmitz D.A., Lee J., Pawlowski K., Wu J., Buszczak M.;
RT "Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a
RT late step in human ribosome assembly.";
RL Cell Rep. 38:110597-110597(2022).
CC -!- FUNCTION: ATP-dependent chaperone, which plays an essential role in the
CC cytoplasmic maturation steps of pre-60S ribosomal particles by
CC promoting the release of shuttling protein RSL24D1/RLP24 from the pre-
CC ribosomal particles (PubMed:35354024). Acts together with SPATA5,
CC C1orf109 and CINP (PubMed:35354024). {ECO:0000269|PubMed:35354024}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065,
CC ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616,
CC ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.10;
CC Evidence={ECO:0000250|UniProtKB:P32794};
CC -!- SUBUNIT: Associates with pre-60S ribosomal particles (PubMed:35354024).
CC Interacts with C1orf109 (PubMed:35354024).
CC {ECO:0000269|PubMed:35354024}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18445686}.
CC Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:18445686}. Nucleus
CC {ECO:0000250|UniProtKB:D4A2B7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BVQ7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BVQ7-2; Sequence=VSP_033052, VSP_033053;
CC Name=3;
CC IsoId=Q9BVQ7-3; Sequence=VSP_033050, VSP_033051;
CC -!- TISSUE SPECIFICITY: Expressed in both neurons and glia during embryonic
CC and adult stages of brain development. {ECO:0000269|PubMed:34626583}.
CC -!- DISEASE: Deafness, autosomal recessive, 119 (DFNB119) [MIM:619615]: A
CC form of non-syndromic deafness characterized by mild to profound
CC sensorineural hearing loss. Sensorineural hearing loss results from
CC damage to the neural receptors of the inner ear, the nerve pathways to
CC the brain, or the area of the brain that receives sound information.
CC {ECO:0000269|PubMed:34626583}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Neurodevelopmental disorder with hearing loss and spasticity
CC (NEDHLS) [MIM:619616]: An autosomal recessive neurodevelopmental
CC disorder characterized by hearing loss, global developmental delay,
CC impaired intellectual development, hypotonia, spastic-dystonic cerebral
CC palsy, focal or generalized epilepsy, and microcephaly.
CC {ECO:0000269|PubMed:34626583}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the AAA ATPase family. AFG2 subfamily.
CC {ECO:0000305}.
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DR EMBL; AK022348; BAB14017.1; -; mRNA.
DR EMBL; AK023232; BAB14482.1; -; mRNA.
DR EMBL; AK291457; BAF84146.1; -; mRNA.
DR EMBL; AC025580; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090527; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000981; AAH00981.1; -; mRNA.
DR CCDS; CCDS10123.1; -. [Q9BVQ7-1]
DR CCDS; CCDS81877.1; -. [Q9BVQ7-2]
DR RefSeq; NP_001310569.1; NM_001323640.1. [Q9BVQ7-2]
DR RefSeq; NP_076968.2; NM_024063.2. [Q9BVQ7-1]
DR AlphaFoldDB; Q9BVQ7; -.
DR SMR; Q9BVQ7; -.
DR BioGRID; 122496; 113.
DR IntAct; Q9BVQ7; 33.
DR MINT; Q9BVQ7; -.
DR STRING; 9606.ENSP00000305494; -.
DR iPTMnet; Q9BVQ7; -.
DR PhosphoSitePlus; Q9BVQ7; -.
DR BioMuta; SPATA5L1; -.
DR DMDM; 292495038; -.
DR EPD; Q9BVQ7; -.
DR jPOST; Q9BVQ7; -.
DR MassIVE; Q9BVQ7; -.
DR MaxQB; Q9BVQ7; -.
DR PaxDb; Q9BVQ7; -.
DR PeptideAtlas; Q9BVQ7; -.
DR PRIDE; Q9BVQ7; -.
DR ProteomicsDB; 79225; -. [Q9BVQ7-1]
DR ProteomicsDB; 79226; -. [Q9BVQ7-2]
DR ProteomicsDB; 79227; -. [Q9BVQ7-3]
DR Antibodypedia; 24428; 115 antibodies from 22 providers.
DR DNASU; 79029; -.
DR Ensembl; ENST00000305560.11; ENSP00000305494.6; ENSG00000171763.20. [Q9BVQ7-1]
DR Ensembl; ENST00000531970.5; ENSP00000436823.1; ENSG00000171763.20. [Q9BVQ7-2]
DR GeneID; 79029; -.
DR KEGG; hsa:79029; -.
DR MANE-Select; ENST00000305560.11; ENSP00000305494.6; NM_024063.3; NP_076968.2.
DR UCSC; uc001zve.4; human. [Q9BVQ7-1]
DR CTD; 79029; -.
DR DisGeNET; 79029; -.
DR GeneCards; SPATA5L1; -.
DR HGNC; HGNC:28762; SPATA5L1.
DR HPA; ENSG00000171763; Low tissue specificity.
DR MIM; 619578; gene.
DR MIM; 619615; phenotype.
DR MIM; 619616; phenotype.
DR neXtProt; NX_Q9BVQ7; -.
DR OpenTargets; ENSG00000171763; -.
DR PharmGKB; PA134923477; -.
DR VEuPathDB; HostDB:ENSG00000171763; -.
DR eggNOG; KOG0730; Eukaryota.
DR GeneTree; ENSGT00940000160700; -.
DR HOGENOM; CLU_000688_12_2_1; -.
DR InParanoid; Q9BVQ7; -.
DR OMA; RAPDLCD; -.
DR OrthoDB; 194195at2759; -.
DR PhylomeDB; Q9BVQ7; -.
DR TreeFam; TF325792; -.
DR PathwayCommons; Q9BVQ7; -.
DR SignaLink; Q9BVQ7; -.
DR BioGRID-ORCS; 79029; 671 hits in 1076 CRISPR screens.
DR ChiTaRS; SPATA5L1; human.
DR GenomeRNAi; 79029; -.
DR Pharos; Q9BVQ7; Tdark.
DR PRO; PR:Q9BVQ7; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9BVQ7; protein.
DR Bgee; ENSG00000171763; Expressed in lower esophagus mucosa and 183 other tissues.
DR ExpressionAtlas; Q9BVQ7; baseline and differential.
DR Genevisible; Q9BVQ7; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005819; C:spindle; IDA:UniProtKB.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0016887; F:ATP hydrolysis activity; IBA:GO_Central.
DR GO; GO:1990275; F:preribosome binding; IDA:UniProtKB.
DR GO; GO:0042273; P:ribosomal large subunit biogenesis; IDA:UniProtKB.
DR Gene3D; 3.40.50.300; -; 2.
DR InterPro; IPR003593; AAA+_ATPase.
DR InterPro; IPR041569; AAA_lid_3.
DR InterPro; IPR003959; ATPase_AAA_core.
DR InterPro; IPR003960; ATPase_AAA_CS.
DR InterPro; IPR027417; P-loop_NTPase.
DR Pfam; PF00004; AAA; 2.
DR Pfam; PF17862; AAA_lid_3; 2.
DR SMART; SM00382; AAA; 2.
DR SUPFAM; SSF52540; SSF52540; 2.
DR PROSITE; PS00674; AAA; 2.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; ATP-binding; Cytoplasm; Cytoskeleton;
KW Deafness; Epilepsy; Hydrolase; Intellectual disability;
KW Non-syndromic deafness; Nucleotide-binding; Nucleus; Reference proteome;
KW Repeat; Ribosome biogenesis.
FT CHAIN 1..753
FT /note="Ribosome biogenesis protein SPATA5L1"
FT /id="PRO_0000330586"
FT REGION 171..203
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 241..248
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /ligand_label="1"
FT /evidence="ECO:0000255"
FT BINDING 505..512
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /ligand_label="2"
FT /evidence="ECO:0000255"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT VAR_SEQ 365..392
FT /note="VIGTPTLKQRKEILQVITSKMPISSHVD -> NGLGGFAHCRWNLGRFWRHL
FT AAPEAFAS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033050"
FT VAR_SEQ 393..753
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033051"
FT VAR_SEQ 613..620
FT /note="EFQEVFNR -> GKYKELKK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033052"
FT VAR_SEQ 621..753
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033053"
FT VARIANT 26
FT /note="T -> A (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086544"
FT VARIANT 29
FT /note="C -> G (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086545"
FT VARIANT 41
FT /note="A -> P (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086546"
FT VARIANT 64
FT /note="R -> W (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086547"
FT VARIANT 66
FT /note="D -> Y (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086548"
FT VARIANT 71
FT /note="F -> L (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086549"
FT VARIANT 119
FT /note="R -> P (in dbSNP:rs1153850)"
FT /id="VAR_048111"
FT VARIANT 172
FT /note="P -> H (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086550"
FT VARIANT 176
FT /note="G -> V (in DFNB119)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086551"
FT VARIANT 245
FT /note="V -> E (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086552"
FT VARIANT 252
FT /note="R -> Q (in dbSNP:rs7182723)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_059085"
FT VARIANT 360
FT /note="F -> S (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086553"
FT VARIANT 364
FT /note="V -> E (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086554"
FT VARIANT 400
FT /note="T -> I (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086555"
FT VARIANT 438
FT /note="L -> P (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086556"
FT VARIANT 466
FT /note="I -> M (in DFNB119)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086557"
FT VARIANT 519
FT /note="A -> D (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086558"
FT VARIANT 561
FT /note="L -> S (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086559"
FT VARIANT 592
FT /note="N -> D (in dbSNP:rs16943025)"
FT /id="VAR_048112"
FT VARIANT 609..753
FT /note="Missing (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086560"
FT VARIANT 640..753
FT /note="Missing (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086561"
FT VARIANT 658
FT /note="R -> K (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086562"
FT VARIANT 669
FT /note="M -> R (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086563"
FT VARIANT 689
FT /note="G -> V (in NEDHLS)"
FT /evidence="ECO:0000269|PubMed:34626583"
FT /id="VAR_086564"
FT CONFLICT 257
FT /note="E -> G (in Ref. 1; BAB14017)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 753 AA; 80710 MW; E92A4483681017ED CRC64;
MAPDSDPFPE GPLLKLLPLD ARDRGTQRCR LGPAALHALG ARLGSAVKIS LPDGGSCLCT
AWPRRDGADG FVQLDPLCAS PGAAVGASRS RRSLSLNRLL LVPCPPLRRV AVWPVLRERA
GAPGARNTAA VLEAAQELLR NRPISLGHVV VAPPGAPGLV AALHIVGGTP SPDPAGLVTP
RTRVSLGGEP PSEAQPQPEV PLGGLSEAAD SLRELLRLPL RYPRALTALG LAVPRGVLLA
GPPGVGKTQL VRAVAREAGA ELLAVSAPAL QGSRPGETEE NVRRVFQRAR ELASRGPSLL
FLDEMDALCP QRGSRAPESR VVAQVLTLLD GASGDREVVV VGATNRPDAL DPALRRPGRF
DREVVIGTPT LKQRKEILQV ITSKMPISSH VDLGLLAEMT VGYVGADLTA LCREAAMHAL
LHSEKNQDNP VIDEIDFLEA FKNIQPSSFR SVIGLMDIKP VDWEEIGGLE DVKLKLKQSI
EWPLKFPWEF VRMGLTQPKG VLLYGPPGCA KTTLVRALAT SCHCSFVSVS GADLFSPFVG
DSEKVLSQIF RQARASTPAI LFLDEIDSIL GARSASKTGC DVQERVLSVL LNELDGVGLK
TIERRGSKSS QQEFQEVFNR SVMIIAATNR PDVLDTALLR PGRLDKIIYI PPPDHKGRLS
ILKVCTKTMP IGPDVSLENL AAETCFFSGA DLRNLCTEAA LLALQENGLD ATTVKQEHFL
KSLKTVKPSL SCKDLALYEN LFKKEGFSNV EGI
