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ZN407_HUMAN
ID   ZN407_HUMAN             Reviewed;        2248 AA.
AC   Q9C0G0; B5MD54; Q96MY0; Q9H8A1; Q9NXD4; Q9NXD7;
DT   19-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT   23-OCT-2007, sequence version 2.
DT   03-AUG-2022, entry version 157.
DE   RecName: Full=Zinc finger protein 407;
GN   Name=ZNF407; Synonyms=KIAA1703;
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=16177791; DOI=10.1038/nature03983;
RA   Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA   Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA   Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA   Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA   Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA   Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA   Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA   Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA   Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 18.";
RL   Nature 437:551-555(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-784 AND 1998-2248 (ISOFORM 1),
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 774-2248 (ISOFORM 2), AND
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1124-2248 (ISOFORM 3).
RC   TISSUE=Hepatoma, Teratocarcinoma, and Thyroid;
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 1084-2248 (ISOFORM 1).
RC   TISSUE=Brain;
RX   PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA   Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XIX. The
RT   complete sequences of 100 new cDNA clones from brain which code for large
RT   proteins in vitro.";
RL   DNA Res. 7:347-355(2000).
RN   [4]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Leukemic T-cell;
RX   PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA   Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA   Rodionov V., Han D.K.;
RT   "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT   reveals system-wide modulation of protein-protein interactions.";
RL   Sci. Signal. 2:RA46-RA46(2009).
RN   [5]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1262, AND IDENTIFICATION BY
RP   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   [6]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1262, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Liver;
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA   Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT   phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
RN   [7]
RP   INVOLVEMENT IN SIMHA, AND VARIANT SIMHA TRP-1685.
RX   PubMed=24907849; DOI=10.1186/1750-1172-9-80;
RA   Kambouris M., Maroun R.C., Ben-Omran T., Al-Sarraj Y., Errafii K., Ali R.,
RA   Boulos H., Curmi P.A., El-Shanti H.;
RT   "Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive
RT   cognitive impairment syndrome.";
RL   Orphanet J. Rare Dis. 9:80-80(2014).
RN   [8]
RP   VARIANTS SIMHA VAL-802; VAL-939 INS; GLY-962 AND ASN-1214.
RX   PubMed=32737394; DOI=10.1038/s10038-020-0812-0;
RA   Zahra Q., Cakmak C., Koprulu M., Shuaib M., Sobreira N., Kalsner L.,
RA   Sobreira J., Guillen Sacoto M.J., Malik S., Tolun A.;
RT   "Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short
RT   stature and variable microcephaly, hypotonia, ocular anomalies and facial
RT   dysmorphism.";
RL   J. Hum. Genet. 65:1115-1123(2020).
CC   -!- FUNCTION: May be involved in transcriptional regulation.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9C0G0-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9C0G0-2; Sequence=VSP_028845, VSP_028846;
CC       Name=3;
CC         IsoId=Q9C0G0-3; Sequence=VSP_028843, VSP_028844;
CC   -!- DISEASE: Short stature, impaired intellectual development,
CC       microcephaly, hypotonia, and ocular anomalies (SIMHA) [MIM:619557]: An
CC       autosomal recessive syndrome characterized by short stature, impaired
CC       intellectual development, microcephaly, hypotonia, and ocular
CC       anomalies. {ECO:0000269|PubMed:24907849, ECO:0000269|PubMed:32737394}.
CC       Note=The disease is caused by variants affecting the gene represented
CC       in this entry.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAA91077.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAA91080.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AC138660; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC091589; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC023380; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC100783; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC015819; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AK000314; BAA91077.1; ALT_INIT; mRNA.
DR   EMBL; AK000317; BAA91080.1; ALT_INIT; mRNA.
DR   EMBL; AK023901; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AK056288; BAB71139.1; -; mRNA.
DR   EMBL; AB051490; BAB21794.1; -; mRNA.
DR   CCDS; CCDS45885.1; -. [Q9C0G0-1]
DR   CCDS; CCDS54191.1; -. [Q9C0G0-3]
DR   CCDS; CCDS58634.1; -. [Q9C0G0-2]
DR   RefSeq; NP_001139661.1; NM_001146189.1. [Q9C0G0-2]
DR   RefSeq; NP_001139662.1; NM_001146190.1. [Q9C0G0-3]
DR   RefSeq; NP_060227.2; NM_017757.2. [Q9C0G0-1]
DR   RefSeq; XP_005266783.1; XM_005266726.4.
DR   RefSeq; XP_011524370.1; XM_011526068.2.
DR   RefSeq; XP_011524372.1; XM_011526070.1. [Q9C0G0-3]
DR   AlphaFoldDB; Q9C0G0; -.
DR   BioGRID; 120767; 11.
DR   IntAct; Q9C0G0; 6.
DR   STRING; 9606.ENSP00000299687; -.
DR   iPTMnet; Q9C0G0; -.
DR   PhosphoSitePlus; Q9C0G0; -.
DR   BioMuta; ZNF407; -.
DR   DMDM; 160358927; -.
DR   EPD; Q9C0G0; -.
DR   jPOST; Q9C0G0; -.
DR   MassIVE; Q9C0G0; -.
DR   MaxQB; Q9C0G0; -.
DR   PaxDb; Q9C0G0; -.
DR   PeptideAtlas; Q9C0G0; -.
DR   PRIDE; Q9C0G0; -.
DR   ProteomicsDB; 80031; -. [Q9C0G0-1]
DR   ProteomicsDB; 80032; -. [Q9C0G0-2]
DR   ProteomicsDB; 80033; -. [Q9C0G0-3]
DR   Antibodypedia; 23353; 51 antibodies from 13 providers.
DR   DNASU; 55628; -.
DR   Ensembl; ENST00000299687.10; ENSP00000299687.4; ENSG00000215421.10. [Q9C0G0-1]
DR   Ensembl; ENST00000309902.10; ENSP00000310359.5; ENSG00000215421.10. [Q9C0G0-3]
DR   Ensembl; ENST00000577538.5; ENSP00000463270.1; ENSG00000215421.10. [Q9C0G0-2]
DR   Ensembl; ENST00000582337.5; ENSP00000462348.1; ENSG00000215421.10. [Q9C0G0-3]
DR   GeneID; 55628; -.
DR   KEGG; hsa:55628; -.
DR   MANE-Select; ENST00000299687.10; ENSP00000299687.4; NM_017757.3; NP_060227.2.
DR   UCSC; uc002llw.3; human. [Q9C0G0-1]
DR   CTD; 55628; -.
DR   DisGeNET; 55628; -.
DR   GeneCards; ZNF407; -.
DR   HGNC; HGNC:19904; ZNF407.
DR   HPA; ENSG00000215421; Low tissue specificity.
DR   MIM; 615894; gene.
DR   MIM; 619557; phenotype.
DR   neXtProt; NX_Q9C0G0; -.
DR   OpenTargets; ENSG00000215421; -.
DR   PharmGKB; PA134942906; -.
DR   VEuPathDB; HostDB:ENSG00000215421; -.
DR   eggNOG; KOG1721; Eukaryota.
DR   GeneTree; ENSGT00940000156446; -.
DR   HOGENOM; CLU_002134_0_0_1; -.
DR   InParanoid; Q9C0G0; -.
DR   OMA; DNKCLHC; -.
DR   OrthoDB; 1318335at2759; -.
DR   PhylomeDB; Q9C0G0; -.
DR   TreeFam; TF350895; -.
DR   PathwayCommons; Q9C0G0; -.
DR   SignaLink; Q9C0G0; -.
DR   BioGRID-ORCS; 55628; 634 hits in 1100 CRISPR screens.
DR   ChiTaRS; ZNF407; human.
DR   GenomeRNAi; 55628; -.
DR   Pharos; Q9C0G0; Tbio.
DR   PRO; PR:Q9C0G0; -.
DR   Proteomes; UP000005640; Chromosome 18.
DR   RNAct; Q9C0G0; protein.
DR   Bgee; ENSG00000215421; Expressed in secondary oocyte and 183 other tissues.
DR   ExpressionAtlas; Q9C0G0; baseline and differential.
DR   Genevisible; Q9C0G0; HS.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR   GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR   GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   GO; GO:0010468; P:regulation of gene expression; IBA:GO_Central.
DR   InterPro; IPR003604; Matrin/U1-like-C_Znf_C2H2.
DR   InterPro; IPR036236; Znf_C2H2_sf.
DR   InterPro; IPR013087; Znf_C2H2_type.
DR   Pfam; PF00096; zf-C2H2; 2.
DR   SMART; SM00355; ZnF_C2H2; 25.
DR   SMART; SM00451; ZnF_U1; 7.
DR   SUPFAM; SSF57667; SSF57667; 5.
DR   PROSITE; PS00028; ZINC_FINGER_C2H2_1; 8.
DR   PROSITE; PS50157; ZINC_FINGER_C2H2_2; 9.
PE   1: Evidence at protein level;
KW   Alternative splicing; Disease variant; DNA-binding; Dwarfism;
KW   Intellectual disability; Metal-binding; Nucleus; Phosphoprotein;
KW   Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW   Zinc-finger.
FT   CHAIN           1..2248
FT                   /note="Zinc finger protein 407"
FT                   /id="PRO_0000047568"
FT   ZN_FING         186..208
FT                   /note="C2H2-type 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         215..238
FT                   /note="C2H2-type 2"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         244..268
FT                   /note="C2H2-type 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         528..551
FT                   /note="C2H2-type 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         557..581
FT                   /note="C2H2-type 5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         615..639
FT                   /note="C2H2-type 6"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         705..728
FT                   /note="C2H2-type 7"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         850..873
FT                   /note="C2H2-type 8"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         879..903
FT                   /note="C2H2-type 9"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1017..1040
FT                   /note="C2H2-type 10"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1046..1070
FT                   /note="C2H2-type 11"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1444..1468
FT                   /note="C2H2-type 12"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1486..1509
FT                   /note="C2H2-type 13"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1537..1561
FT                   /note="C2H2-type 14; degenerate"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1567..1589
FT                   /note="C2H2-type 15"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1595..1618
FT                   /note="C2H2-type 16"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1628..1650
FT                   /note="C2H2-type 17"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1656..1680
FT                   /note="C2H2-type 18"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1686..1708
FT                   /note="C2H2-type 19"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1714..1736
FT                   /note="C2H2-type 20"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1742..1767
FT                   /note="C2H2-type 21"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   ZN_FING         1773..1796
FT                   /note="C2H2-type 22"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT   REGION          1..84
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          291..322
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          494..515
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          667..700
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          821..847
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          910..962
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1..26
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        49..63
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        64..84
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        494..510
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        670..697
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         1262
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163,
FT                   ECO:0007744|PubMed:24275569"
FT   VAR_SEQ         1625..1660
FT                   /note="ERKFTCHLCDRSFTEKWALNNHMKLHTGEKPFKCTW -> ERVKVAYRKIGT
FT                   LPGIQNNRNASSASEAQSLCEHFS (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_028843"
FT   VAR_SEQ         1661..2248
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_028844"
FT   VAR_SEQ         1811..1815
FT                   /note="IVSKS -> KGQKL (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_028845"
FT   VAR_SEQ         1816..2248
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_028846"
FT   VARIANT         69
FT                   /note="N -> S (in dbSNP:rs3794942)"
FT                   /id="VAR_052820"
FT   VARIANT         512
FT                   /note="G -> R (in dbSNP:rs7227263)"
FT                   /id="VAR_052821"
FT   VARIANT         802
FT                   /note="G -> V (in SIMHA; unknown pathological
FT                   significance)"
FT                   /evidence="ECO:0000269|PubMed:32737394"
FT                   /id="VAR_086433"
FT   VARIANT         939
FT                   /note="V -> VV (in SIMHA)"
FT                   /evidence="ECO:0000269|PubMed:32737394"
FT                   /id="VAR_086434"
FT   VARIANT         962
FT                   /note="R -> G (in SIMHA; unknown pathological
FT                   significance)"
FT                   /evidence="ECO:0000269|PubMed:32737394"
FT                   /id="VAR_086435"
FT   VARIANT         972
FT                   /note="N -> T (in dbSNP:rs948615)"
FT                   /id="VAR_036694"
FT   VARIANT         1214
FT                   /note="K -> N (in SIMHA; unknown pathological
FT                   significance)"
FT                   /evidence="ECO:0000269|PubMed:32737394"
FT                   /id="VAR_086436"
FT   VARIANT         1259
FT                   /note="S -> L (in dbSNP:rs34048449)"
FT                   /id="VAR_061945"
FT   VARIANT         1685
FT                   /note="S -> W (in SIMHA)"
FT                   /evidence="ECO:0000269|PubMed:24907849"
FT                   /id="VAR_086437"
FT   VARIANT         1913
FT                   /note="A -> T (in dbSNP:rs17056248)"
FT                   /id="VAR_052822"
FT   CONFLICT        988
FT                   /note="K -> E (in Ref. 2; BAA91077)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1297
FT                   /note="V -> D (in Ref. 2; BAA91077)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1353
FT                   /note="F -> S (in Ref. 2; BAA91077)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1415
FT                   /note="R -> C (in Ref. 2; BAA91077)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1520
FT                   /note="I -> V (in Ref. 2; BAA91077)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        1584
FT                   /note="N -> D (in Ref. 2; BAA91080)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2181
FT                   /note="D -> G (in Ref. 2; AK023901)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   2248 AA;  247367 MW;  1AE958917F5F7B91 CRC64;
     MMDSENKPEN DEDEKINKEA QDLTKLSSHN EDGGPVSDVI ASFPENSMGK RGFSESSNSD
     SVVIGEDRNK HASKRRKLDE AEPLKSGKQG ICRLETSESS VTEGGIALDE TGKETFLSDC
     TVGGTCLPNA LSPSCNFSTI DVVSLKTDTE KTSAQEMVSL DLERESPFPP KEISVSCTIG
     NVDTVLKCSI CGHLFSSCSD LEKHAESHMQ QPKEHTCCHC SHKAESSSAL HMHIKQAHGP
     QKVFSCDLCG FQCSEENLLN AHYLGKTHLR RQNLAARGGF VQILTKQPFP KKSRTMATKN
     VHSKPRTSKS IAKNSDSKGL RNVGSTFKDF RGSISKQSGS SSELLVEMMP SRNTLSQEVE
     IVEEHVTSLG LAQNPENQSR KLDTLVTSEG LLEKLESTKN TLQAAHGNSV TSRPRPERNI
     LVLGNSFRRR SSTFTLKGQA KKRFNLLGIK RGTSETQRMY MKHLRTQMKT HDAESVLKHL
     EACSSVQRVC VTTSETQEAE QGQGSARPPD SGLHSLTVKP ASGSQTLCAC TDCGQVATNR
     TDLEIHVKRC HAREMKFYCR TCDFSSMSRR DLDEHLHSNQ HQQTASVLSC QCCSFISLDE
     INLRDHMKEK HNMHFLCTPC NLFFLSEKDV EEHKATEKHI NSLVQPKTLQ SSNSDLVLQT
     LPLSTLESEN AKESMDDSGK ASQEEPLKSR VSHGNEVRHS SKPQFQCKKC FYKTRSSTVL
     TRHIKLRHGQ DYHFLCKACN LYSLSKEGME KHIKRSKHLE NAKKNNIGLS FEECIERVCI
     GANDKKEEFD VSGNGRIEGH IGVQLQEHSY LEKGMLASEE LSQSGGSTKD DELASTTTPK
     RGRPKGNISR TCSHCGLLAS SITNLTVHIR RKHSHQYSYL CKVCKYYTVT KGDMERHCAT
     KKHKGRVEIE ASGKHSSDII VGPEGGSLEA GKKNAGSAVT MSDEHANKPA ESPTSVLEKP
     DRGNSIEAEV ENVFHSLDGE VNSHLLDKKE QISSEPEDFA QPGDVYSQRD VTGTGENKCL
     HCEFSAHSSA SLELHVKRKH TKEFEFYCMA CDYYAVTRRE MTRHAATEKH KMKRQSYLNS
     ANVEAGSADM SKNIIMPEEE HQQNSEEFQI ISGQPSDTLK SRNAADCSIL NENTNLDMSK
     VLCAADSVEV ETEEESNFNE DHSFCETFQQ APVKDKVRKP EEMMSLTMSS NYGSPSRFQN
     ENSGSSALNC ETAKKNHEIS NDAGELRVHC EGEGGNAGDG GGVVPHRHLC PVTLDGERSA
     ESPVLVVTRI TREQGNLESG GQNRVARGHG LEDLKGVQED PVLGNKEILM NSQHETEFIL
     EEDGPASDST VESSDVYETI ISIDDKGQAM YSFGRFDSSI IRIKNPEDGE LIDQSEEGLI
     ATGVRISELP LKDCAQGVKK KKSEGSSIGE STRIRCDDCG FLADGLSGLN VHIAMKHPTK
     EKHFHCLLCG KSFYTESNLH QHLASAGHMR NEQASVEELP EGGATFKCVK CTEPFDSEQN
     LFLHIKGQHE ELLREVNKYI VEDTEQINRE REENQGNVCK YCGKMCRSSN SMAFLAHIRT
     HTGSKPFKCK ICHFATAQLG DARNHVKRHL GMREYKCHVC GVAFVMKKHL NTHLLGKHGV
     GTPKERKFTC HLCDRSFTEK WALNNHMKLH TGEKPFKCTW PTCHYSFLTA SAMKDHYRTH
     TGEKSFLCDL CGFAGGTRHA LTKHRRQHTG EKPFKCDECN FASTTQSHLT RHKRVHTGEK
     PYRCPWCDYR SNCAENIRKH ILHTGKHEGV KMYNCPKCDY GTNVPVEFRN HLKEQHPDIE
     NPDLAYLHAG IVSKSYECRL KGQGATFVET DSPFTAAALA EEPLVKEKPL RSSRRPAPPP
     EQVQQVIIFQ GYDGEFALDP SVEETAAATL QTLAMAGQVA RVVHITEDGQ VIATSQSGAH
     VGSVVPGPIL PEQLADGATQ VVVVGGSMEG HGMDESLSPG GAVIQQVTKQ EILNLSEAGV
     APPEASSALD ALLCAVTELG EVEGRAGLEE QGRPGAKDVL IQLPGQEVSH VAADPEAPEI
     QMFPQAQESP AAVEVLTQVV HPSAAMASQE RAQVAFKKMV QGVLQFAVCD TAAAGQLVKD
     GVTQVVVSEE GAVHMVAGEG AQIIMQEAQG EHMDLVESDG EISQIIVTEE LVQAMVQESS
     GGFSEGTTHY ILTELPPGVQ DEPGLYSHTV LETADSQELL QAGATLGTEA GAPSRAEQLA
     SVVIYTQEGS SAAAAIQSQR ESSELQEA
 
 
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