ID   AFG2B_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   27-MAR-2024, entry version 176.
DE   RecName: Full=ATPase family gene 2 protein homolog B;
DE            EC=3.6.4.10 {ECO:0000250|UniProtKB:P32794};
DE   AltName: Full=AFG2 AAA ATPase homolog B;
DE   AltName: Full=Ribosome biogenesis protein SPATA5L1 {ECO:0000305};
DE   AltName: Full=Spermatogenesis-associated protein 5-like protein 1;
GN   Name=AFG2B {ECO:0000312|HGNC:HGNC:28762};
GN   Synonyms=SPATA5L1 {ECO:0000303|PubMed:34626583};
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 AIRIM, 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 AFG2A, AIRIM
CC       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 AIRIM (PubMed:35354024). {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; 125.
DR   IntAct; Q9BVQ7; 34.
DR   MINT; Q9BVQ7; -.
DR   STRING; 9606.ENSP00000305494; -.
DR   iPTMnet; Q9BVQ7; -.
DR   PhosphoSitePlus; Q9BVQ7; -.
DR   SwissPalm; Q9BVQ7; -.
DR   BioMuta; SPATA5L1; -.
DR   DMDM; 292495038; -.
DR   EPD; Q9BVQ7; -.
DR   jPOST; Q9BVQ7; -.
DR   MassIVE; Q9BVQ7; -.
DR   MaxQB; Q9BVQ7; -.
DR   PaxDb; 9606-ENSP00000305494; -.
DR   PeptideAtlas; Q9BVQ7; -.
DR   ProteomicsDB; 79225; -. [Q9BVQ7-1]
DR   ProteomicsDB; 79226; -. [Q9BVQ7-2]
DR   ProteomicsDB; 79227; -. [Q9BVQ7-3]
DR   Pumba; Q9BVQ7; -.
DR   Antibodypedia; 24428; 127 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   AGR; HGNC:28762; -.
DR   CTD; 79029; -.
DR   DisGeNET; 79029; -.
DR   GeneCards; AFG2B; -.
DR   HGNC; HGNC:28762; AFG2B.
DR   HPA; ENSG00000171763; Low tissue specificity.
DR   MalaCards; AFG2B; -.
DR   MIM; 619578; gene.
DR   MIM; 619615; phenotype.
DR   MIM; 619616; phenotype.
DR   neXtProt; NX_Q9BVQ7; -.
DR   OpenTargets; ENSG00000171763; -.
DR   Orphanet; 90636; Rare autosomal recessive non-syndromic sensorineural deafness type DFNB.
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; DRHIYVA; -.
DR   OrthoDB; 168438at2759; -.
DR   PhylomeDB; Q9BVQ7; -.
DR   TreeFam; TF325792; -.
DR   PathwayCommons; Q9BVQ7; -.
DR   SignaLink; Q9BVQ7; -.
DR   BioGRID-ORCS; 79029; 707 hits in 1152 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 185 other cell types or tissues.
DR   ExpressionAtlas; Q9BVQ7; baseline and differential.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
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   CDD; cd19511; RecA-like_CDC48_r2-like; 1.
DR   Gene3D; 1.10.8.60; -; 2.
DR   Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 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   PANTHER; PTHR23077; AAA-FAMILY ATPASE; 1.
DR   PANTHER; PTHR23077:SF117; SPERMATOGENESIS-ASSOCIATED PROTEIN 5-LIKE PROTEIN 1; 1.
DR   Pfam; PF00004; AAA; 2.
DR   Pfam; PF17862; AAA_lid_3; 2.
DR   SMART; SM00382; AAA; 2.
DR   SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 2.
DR   PROSITE; PS00674; AAA; 2.
DR   Genevisible; Q9BVQ7; HS.
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="ATPase family gene 2 protein homolog B"
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
//