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DONS_HUMAN
ID   DONS_HUMAN              Reviewed;         566 AA.
AC   Q9NYP3; Q8NC53; Q9NSR9; Q9NVZ5; Q9NYP1; Q9NYP2;
DT   11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT   11-JAN-2001, sequence version 2.
DT   03-AUG-2022, entry version 151.
DE   RecName: Full=Protein downstream neighbor of Son;
DE   AltName: Full=B17;
GN   Name=DONSON; Synonyms=C21orf60;
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] (ISOFORM 1).
RC   TISSUE=Teratocarcinoma;
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 MRNA] (ISOFORM 1).
RC   TISSUE=Testis;
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Mammary gland;
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   NUCLEOTIDE SEQUENCE [MRNA] OF 108-566 (ISOFORMS 1; 2 AND 3).
RX   PubMed=10773462; DOI=10.1016/s0378-1119(00)00089-5;
RA   Slavov D., Hattori M., Sakaki Y., Rosenthal A., Shimizu N., Minoshima S.,
RA   Kudoh J., Yaspo M.-L., Ramser J., Reinhardt R., Reimer C., Clancy K.,
RA   Rynditch A., Gardiner K.;
RT   "Criteria for gene identification and features of genome organization:
RT   analysis of 6.5 Mb of DNA sequence from human chromosome 21.";
RL   Gene 247:215-232(2000).
RN   [5]
RP   SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
RX   PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
RA   Hillman R.T., Green R.E., Brenner S.E.;
RT   "An unappreciated role for RNA surveillance.";
RL   Genome Biol. 5:R8.1-R8.16(2004).
RN   [6]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [7]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-28 AND SER-34, AND
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma, and Erythroleukemia;
RX   PubMed=23186163; DOI=10.1021/pr300630k;
RA   Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA   Mohammed S.;
RT   "Toward a comprehensive characterization of a human cancer cell
RT   phosphoproteome.";
RL   J. Proteome Res. 12:260-271(2013).
RN   [8]
RP   INVOLVEMENT IN MIMIS, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX   PubMed=28630177; DOI=10.1101/gr.219899.116;
RA   Evrony G.D., Cordero D.R., Shen J., Partlow J.N., Yu T.W., Rodin R.E.,
RA   Hill R.S., Coulter M.E., Lam A.N., Jayaraman D., Gerrelli D., Diaz D.G.,
RA   Santos C., Morrison V., Galli A., Tschulena U., Wiemann S., Martel M.J.,
RA   Spooner B., Ryu S.C., Elhosary P.C., Richardson J.M., Tierney D.,
RA   Robinson C.A., Chibbar R., Diudea D., Folkerth R., Wiebe S.,
RA   Barkovich A.J., Mochida G.H., Irvine J., Lemire E.G., Blakley P.,
RA   Walsh C.A.;
RT   "Integrated genome and transcriptome sequencing identifies a noncoding
RT   mutation in the genome replication factor DONSON as the cause of
RT   microcephaly-micromelia syndrome.";
RL   Genome Res. 27:1323-1335(2017).
RN   [9]
RP   INVOLVEMENT IN MISSLA, VARIANTS MISSLA ARG-278; CYS-282; LEU-292;
RP   293-ARG--SER-566 DEL; 417-ASN-SER-418 DEL; 419-LYS--SER-566 DEL;
RP   428-GLN--SER-566 DEL; SER-433; THR-446; THR-489; LYS-504; LYS-543 INS AND
RP   563-ASN--SER-566 DEL, CHARACTERIZATION OF VARIANTS MISSLA CYS-282; LEU-292;
RP   417-ASN-SER-418 DEL; THR-446; THR-489 AND LYS-543, VARIANT ARG-28,
RP   CHARACTERIZATION OF VARIANT ARG-28, FUNCTION, SUBCELLULAR LOCATION,
RP   INDUCTION, IDENTIFICATION IN THE REPLISOME COMPLEX, AND INTERACTION WITH
RP   MCM2; MCM7; PCNA AND TICRR.
RX   PubMed=28191891; DOI=10.1038/ng.3790;
RA   Reynolds J.J., Bicknell L.S., Carroll P., Higgs M.R., Shaheen R.,
RA   Murray J.E., Papadopoulos D.K., Leitch A., Murina O., Tarnauskaite Z.,
RA   Wessel S.R., Zlatanou A., Vernet A., von Kriegsheim A., Mottram R.M.,
RA   Logan C.V., Bye H., Li Y., Brean A., Maddirevula S., Challis R.C.,
RA   Skouloudaki K., Almoisheer A., Alsaif H.S., Amar A., Prescott N.J.,
RA   Bober M.B., Duker A., Faqeih E., Seidahmed M.Z., Al Tala S., Alswaid A.,
RA   Ahmed S., Al-Aama J.Y., Altmueller J., Al Balwi M., Brady A.F., Chessa L.,
RA   Cox H., Fischetto R., Heller R., Henderson B.D., Hobson E., Nuernberg P.,
RA   Percin E.F., Peron A., Spaccini L., Quigley A.J., Thakur S., Wise C.A.,
RA   Yoon G., Alnemer M., Tomancak P., Yigit G., Taylor A.M., Reijns M.A.,
RA   Simpson M.A., Cortez D., Alkuraya F.S., Mathew C.G., Jackson A.P.,
RA   Stewart G.S.;
RT   "Mutations in DONSON disrupt replication fork stability and cause
RT   microcephalic dwarfism.";
RL   Nat. Genet. 49:537-549(2017).
CC   -!- FUNCTION: Replisome component that maintains genome stability by
CC       protecting stalled or damaged replication forks. After the induction of
CC       replication stress, required for the stabilization of stalled
CC       replication forks, the efficient activation of the intra-S-phase and
CC       G/2M cell-cycle checkpoints and the maintenance of genome stability.
CC       {ECO:0000269|PubMed:28191891}.
CC   -!- SUBUNIT: Component of the replisome complex composed of at least
CC       DONSON, MCM2, MCM7, PCNA and TICRR; interaction at least with PCNA
CC       occurs during DNA replication. {ECO:0000269|PubMed:28191891}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28191891}.
CC       Note=Localizes at DNA replication sites. {ECO:0000269|PubMed:28191891}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC         Comment=Experimental confirmation may be lacking for some isoforms.;
CC       Name=1;
CC         IsoId=Q9NYP3-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9NYP3-2; Sequence=VSP_004192, VSP_004193;
CC       Name=3;
CC         IsoId=Q9NYP3-3; Sequence=VSP_004194, VSP_004195;
CC   -!- TISSUE SPECIFICITY: Expressed in the brain, with higher levels in
CC       prenatal compared to adult brain. {ECO:0000269|PubMed:28630177}.
CC   -!- DEVELOPMENTAL STAGE: Expressed during embryonic development. At
CC       Carnegie stage 22 (about 7.5 weeks gestation), expressed in numerous
CC       tissues, including brain, heart, lung, gastrointestinal tract, kidney,
CC       hind limb and forelimb digits. Similar expression is observed at 9
CC       weeks of gestation. In the brain of a 9-week old fetus, prominently
CC       expressed in the neocortex subventricular zone and in the cortical
CC       plate and also detected in the ganglionic eminences. At 12 weeks of
CC       gestation, expression in the fetal brain is prominent in the basal
CC       ganglia and the ventricular and subventricular zones and cortical plate
CC       of the neocortex, mesencephalon, and rhombencephalon. At 15 and 16
CC       weeks, highly expressed in the ventricular and subventricular zones,
CC       respectively. Highly expressed in the ganglionic eminence of 15 week-
CC       old brain and subplate of 16 week-old brain. At 20 weeks of gestation,
CC       expressed in the ventricular and subventricular zones, intermediate
CC       zone, and cortical plate of the neocortex. At 21 weeks of gestation,
CC       expressed in the neocortex with highest levels in the cortical plate.
CC       {ECO:0000269|PubMed:28630177}.
CC   -!- INDUCTION: Expression is cell-cycle dependent with highest levels
CC       during S phase. {ECO:0000269|PubMed:28191891}.
CC   -!- DISEASE: Microcephaly-micromelia syndrome (MIMIS) [MIM:251230]: A
CC       severe autosomal recessive disorder characterized by intrauterine
CC       growth restriction, marked microcephaly, craniofacial anomalies,
CC       skeletal dysplasia, and variable malformations of the limbs,
CC       particularly the upper limbs. It usually results in death in utero or
CC       in the perinatal period. {ECO:0000269|PubMed:28630177}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry. This extremely rare syndrome is caused by an intronic mutation
CC       that leads to the retention of intron 6, probably resulting in non-
CC       sense mediated mRNA decay. This isoform has also been detected in
CC       healthy tissues, but at much lower levels than in MIMIS samples.
CC       {ECO:0000269|PubMed:28630177}.
CC   -!- DISEASE: Microcephaly, short stature, and limb abnormalities (MISSLA)
CC       [MIM:617604]: An autosomal recessive disorder characterized by
CC       intrauterine growth retardation, microcephaly, variable short stature,
CC       and limb abnormalities mainly affecting the upper limb and radial ray.
CC       Mild intellectual disability and developmental delay is observed in
CC       some patients. {ECO:0000269|PubMed:28191891}. Note=The disease is
CC       caused by variants affecting the gene represented in this entry.
CC   -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC       premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC       decay. {ECO:0000305}.
CC   -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC       premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC       decay. {ECO:0000305}.
CC   -!- SIMILARITY: Belongs to the DONSON family. {ECO:0000305}.
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DR   EMBL; AK074964; BAC11320.1; -; mRNA.
DR   EMBL; AL157441; CAB75661.1; -; mRNA.
DR   EMBL; BC048266; AAH48266.1; -; mRNA.
DR   EMBL; AF232673; AAF72947.1; -; mRNA.
DR   EMBL; AF232674; AAF72948.1; -; mRNA.
DR   EMBL; AF232675; AAF72949.1; -; mRNA.
DR   CCDS; CCDS13632.1; -. [Q9NYP3-1]
DR   PIR; T46933; T46933.
DR   RefSeq; NP_060083.1; NM_017613.3. [Q9NYP3-1]
DR   AlphaFoldDB; Q9NYP3; -.
DR   BioGRID; 119008; 39.
DR   STRING; 9606.ENSP00000307143; -.
DR   iPTMnet; Q9NYP3; -.
DR   PhosphoSitePlus; Q9NYP3; -.
DR   BioMuta; DONSON; -.
DR   EPD; Q9NYP3; -.
DR   jPOST; Q9NYP3; -.
DR   MassIVE; Q9NYP3; -.
DR   MaxQB; Q9NYP3; -.
DR   PaxDb; Q9NYP3; -.
DR   PeptideAtlas; Q9NYP3; -.
DR   PRIDE; Q9NYP3; -.
DR   ProteomicsDB; 83256; -. [Q9NYP3-1]
DR   ProteomicsDB; 83257; -. [Q9NYP3-2]
DR   ProteomicsDB; 83258; -. [Q9NYP3-3]
DR   Antibodypedia; 35001; 69 antibodies from 15 providers.
DR   DNASU; 29980; -.
DR   Ensembl; ENST00000303071.10; ENSP00000307143.4; ENSG00000159147.18. [Q9NYP3-1]
DR   GeneID; 29980; -.
DR   KEGG; hsa:29980; -.
DR   MANE-Select; ENST00000303071.10; ENSP00000307143.4; NM_017613.4; NP_060083.1.
DR   UCSC; uc002ysk.5; human. [Q9NYP3-1]
DR   CTD; 29980; -.
DR   DisGeNET; 29980; -.
DR   GeneCards; DONSON; -.
DR   HGNC; HGNC:2993; DONSON.
DR   HPA; ENSG00000159147; Low tissue specificity.
DR   MalaCards; DONSON; -.
DR   MIM; 251230; phenotype.
DR   MIM; 611428; gene.
DR   MIM; 617604; phenotype.
DR   neXtProt; NX_Q9NYP3; -.
DR   OpenTargets; ENSG00000159147; -.
DR   Orphanet; 572768; Microcephaly-micromelia syndrome.
DR   Orphanet; 572773; Microcephaly-short stature-limb abnormalities syndrome.
DR   PharmGKB; PA27459; -.
DR   VEuPathDB; HostDB:ENSG00000159147; -.
DR   eggNOG; KOG4734; Eukaryota.
DR   GeneTree; ENSGT00390000000447; -.
DR   InParanoid; Q9NYP3; -.
DR   OMA; RCMDPQR; -.
DR   OrthoDB; 479613at2759; -.
DR   PhylomeDB; Q9NYP3; -.
DR   TreeFam; TF318976; -.
DR   PathwayCommons; Q9NYP3; -.
DR   BioGRID-ORCS; 29980; 741 hits in 1078 CRISPR screens.
DR   ChiTaRS; DONSON; human.
DR   GenomeRNAi; 29980; -.
DR   Pharos; Q9NYP3; Tbio.
DR   PRO; PR:Q9NYP3; -.
DR   Proteomes; UP000005640; Chromosome 21.
DR   RNAct; Q9NYP3; protein.
DR   Bgee; ENSG00000159147; Expressed in ventricular zone and 164 other tissues.
DR   ExpressionAtlas; Q9NYP3; baseline and differential.
DR   Genevisible; Q9NYP3; HS.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0005657; C:replication fork; IDA:UniProtKB.
DR   GO; GO:0030894; C:replisome; IDA:UniProtKB.
DR   GO; GO:0000077; P:DNA damage checkpoint signaling; IMP:UniProtKB.
DR   GO; GO:0006260; P:DNA replication; IMP:UniProtKB.
DR   GO; GO:0007095; P:mitotic G2 DNA damage checkpoint signaling; IMP:UniProtKB.
DR   GO; GO:0033260; P:nuclear DNA replication; IBA:GO_Central.
DR   GO; GO:0048478; P:replication fork protection; IMP:UniProtKB.
DR   InterPro; IPR024861; Donson.
DR   PANTHER; PTHR12972; PTHR12972; 1.
DR   PRINTS; PR02064; DONSON.
PE   1: Evidence at protein level;
KW   Alternative splicing; Developmental protein; Disease variant; Dwarfism;
KW   Nucleus; Phosphoprotein; Reference proteome.
FT   CHAIN           1..566
FT                   /note="Protein downstream neighbor of Son"
FT                   /id="PRO_0000079979"
FT   REGION          1..110
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         28
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         34
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   VAR_SEQ         263..265
FT                   /note="SVS -> HGV (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:10773462"
FT                   /id="VSP_004194"
FT   VAR_SEQ         263
FT                   /note="S -> Y (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10773462"
FT                   /id="VSP_004192"
FT   VAR_SEQ         264..566
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10773462"
FT                   /id="VSP_004193"
FT   VAR_SEQ         266..566
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:10773462"
FT                   /id="VSP_004195"
FT   VARIANT         28
FT                   /note="S -> R (no effect on nuclear localization;
FT                   complements loss of endogenous DONSON by rescuing the
FT                   spontaneous fork stalling observed after DONSON depletion;
FT                   dbSNP:rs768071555)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079330"
FT   VARIANT         278
FT                   /note="C -> R (in MISSLA)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079331"
FT   VARIANT         282
FT                   /note="Y -> C (in MISSLA; loss of nuclear localization)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079332"
FT   VARIANT         292
FT                   /note="F -> L (in MISSLA; loss of nuclear localization;
FT                   dbSNP:rs779803447)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079333"
FT   VARIANT         293..566
FT                   /note="Missing (in MISSLA)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079334"
FT   VARIANT         417..418
FT                   /note="Missing (in MISSLA; reduced nuclear localization)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079335"
FT   VARIANT         419..566
FT                   /note="Missing (in MISSLA)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079336"
FT   VARIANT         428..566
FT                   /note="Missing (in MISSLA)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079337"
FT   VARIANT         433
FT                   /note="P -> S (in MISSLA)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079338"
FT   VARIANT         446
FT                   /note="M -> T (in MISSLA; reduced protein level; reduced
FT                   nuclear localization; dbSNP:rs1135401959)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079339"
FT   VARIANT         489
FT                   /note="K -> T (in MISSLA; unknown pathological
FT                   significance; reduced protein level; no effect on nuclear
FT                   localization; does not complement loss of endogenous DONSON
FT                   when tested for the rescue of the spontaneous fork stalling
FT                   observed after DONSON depletion; dbSNP:rs146664036)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079340"
FT   VARIANT         504
FT                   /note="E -> K (in MISSLA; dbSNP:rs374688527)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079341"
FT   VARIANT         543
FT                   /note="Q -> QK (in MISSLA; reduced nuclear localization)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079342"
FT   VARIANT         563..566
FT                   /note="Missing (in MISSLA; unknown pathological
FT                   significance)"
FT                   /evidence="ECO:0000269|PubMed:28191891"
FT                   /id="VAR_079343"
FT   CONFLICT        224
FT                   /note="P -> L (in Ref. 4; AAF72948)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        437
FT                   /note="S -> Y (in Ref. 4; AAF72947)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        557
FT                   /note="L -> Q (in Ref. 1; BAC11320)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   566 AA;  62747 MW;  5421C43C1E2A03F4 CRC64;
     MALSVPGYSP GFRKPPEVVR LRRKRARSRG AAASPPRELT EPAARRAALV AGLPLRPFPA
     AGGRGGGSGG GPAAARRNPF ARLDNRPRVA AEPPDGPARE QPEAPVPFLD SNQENDLLWE
     EKFPERTTVT ELPQTSHVSF SEPDIPSSKS TELPVDWSIK TRLLFTSSQP FTWADHLKAQ
     EEAQGLVQHC RATEVTLPKS IQDPKLSSEL RCTFQQSLIY WLHPALSWLP LFPRIGADRK
     MAGKTSPWSN DATLQHVLMS DWSVSFTSLY NLLKTKLCPY FYVCTYQFTV LFRAAGLAGS
     DLITALISPT TRGLREAMRN EGIEFSLPLI KESGHKKETA SGTSLGYGEE QAISDEDEEE
     SFSWLEEMGV QDKIKKPDIL SIKLRKEKHE VQMDHRPESV VLVKGINTFT LLNFLINSKS
     LVATSGPQAG LPPTLLSPVA FRGATMQMLK ARSVNVKTQA LSGYRDQFSL EITGPIMPHS
     LHSLTMLLKS SQSGSFSAVL YPHEPTAVFN ICLQMDKVLD MEVVHKELTN CGLHPNTLEQ
     LSQIPLLGKS SLRNVVLRDY IYNWRS
 
 
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