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SAM9L_HUMAN
ID   SAM9L_HUMAN             Reviewed;        1584 AA.
AC   Q8IVG5; A0JP23; A0JP24; A0PJG8; A4D1G8; D6W5Q6; Q2TV71; Q2TV75; Q2UZV8;
AC   Q8IWI4; Q8N3L9; Q8N875;
DT   06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT   06-MAR-2007, sequence version 2.
DT   03-AUG-2022, entry version 137.
DE   RecName: Full=Sterile alpha motif domain-containing protein 9-like;
DE            Short=SAM domain-containing protein 9-like;
GN   Name=SAMD9L; Synonyms=C7orf6, DRIF2, KIAA2005, UEF;
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 [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
RX   PubMed=17407603; DOI=10.1186/1471-2164-8-92;
RA   Li C.F., MacDonald J.R., Wei R.Y., Ray J., Lau K., Kandel C., Koffman R.,
RA   Bell S., Scherer S.W., Alman B.A.;
RT   "Human sterile alpha motif domain 9, a novel gene identified as down-
RT   regulated in aggressive fibromatosis, is absent in the mouse.";
RL   BMC Genomics 8:92-92(2007).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12690205; DOI=10.1126/science.1083423;
RA   Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA   Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA   Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA   Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA   Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA   Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA   Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA   Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA   Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA   Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA   Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA   Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA   Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA   Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA   Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA   Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA   Adams M.D., Tsui L.-C.;
RT   "Human chromosome 7: DNA sequence and biology.";
RL   Science 300:767-772(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Skin, and Uterus;
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   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 868-1584 (ISOFORM 1).
RC   TISSUE=Spleen;
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   [8]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1090-1584 (ISOFORM 1).
RC   TISSUE=Amygdala;
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   [9]
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   [10]
RP   INTERACTION WITH EEA1.
RX   PubMed=24029230; DOI=10.1016/j.ccr.2013.08.011;
RA   Nagamachi A., Matsui H., Asou H., Ozaki Y., Aki D., Kanai A., Takubo K.,
RA   Suda T., Nakamura T., Wolff L., Honda H., Inaba T.;
RT   "Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes
RT   myeloid malignancies in mice mimicking human diseases with monosomy 7.";
RL   Cancer Cell 24:305-317(2013).
RN   [11]
RP   INVOLVEMENT IN ATXPC, AND VARIANTS ATXPC GLN-880 AND SER-1196.
RX   PubMed=27259050; DOI=10.1016/j.ajhg.2016.04.009;
RA   Chen D.H., Below J.E., Shimamura A., Keel S.B., Matsushita M., Wolff J.,
RA   Sul Y., Bonkowski E., Castella M., Taniguchi T., Nickerson D.,
RA   Papayannopoulou T., Bird T.D., Raskind W.H.;
RT   "Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L.";
RL   Am. J. Hum. Genet. 98:1146-1158(2016).
RN   [12]
RP   INVOLVEMENT IN M7MLS1, AND VARIANTS M7MLS1 GLN-880; CYS-986; LYS-1281 AND
RP   ALA-1512.
RX   PubMed=30046003; DOI=10.1172/jci.insight.121086;
RA   Wong J.C., Bryant V., Lamprecht T., Ma J., Walsh M., Schwartz J.,
RA   Del Pilar Alzamora M., Mullighan C.G., Loh M.L., Ribeiro R., Downing J.R.,
RA   Carroll W.L., Davis J., Gold S., Rogers P.C., Israels S., Yanofsky R.,
RA   Shannon K., Klco J.M.;
RT   "Germline SAMD9 and SAMD9L mutations are associated with extensive genetic
RT   evolution and diverse hematologic outcomes.";
RL   JCI Insight 3:0-0(2018).
CC   -!- FUNCTION: May be involved in endosome fusion. Mediates down-regulation
CC       of growth factor signaling via internalization of growth factor
CC       receptors. {ECO:0000250|UniProtKB:Q69Z37}.
CC   -!- SUBUNIT: Interacts with EEA1. {ECO:0000269|PubMed:24029230}.
CC   -!- SUBCELLULAR LOCATION: Early endosome {ECO:0000250|UniProtKB:Q69Z37}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8IVG5-1; Sequence=Displayed;
CC       Name=2; Synonyms=UEF3;
CC         IsoId=Q8IVG5-2; Sequence=VSP_027875;
CC   -!- TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues.
CC       Variable expression in tumors. Down-regulated in breast cancer.
CC       {ECO:0000269|PubMed:17407603}.
CC   -!- DISEASE: Ataxia-pancytopenia syndrome (ATXPC) [MIM:159550]: An
CC       autosomal dominant disorder characterized by cerebellar ataxia,
CC       variable hematologic cytopenias, and predisposition to bone marrow
CC       failure and myeloid leukemia. {ECO:0000269|PubMed:27259050}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- DISEASE: Monosomy 7 myelodysplasia and leukemia syndrome 1 (M7MLS1)
CC       [MIM:252270]: A hematologic disorder characterized by bone marrow
CC       dyspoiesis and pancytopenia manifesting in early childhood, associated
CC       with monosomy 7 in the bone marrow. Disease severity ranges from
CC       transient thrombocytopenia or anemia, or normal peripheral blood counts
CC       with transient bone marrow abnormalities or transient monosomy 7, to
CC       frank myelodysplastic syndrome or acute myelogenous leukemia. M7MLS1
CC       inheritance is autosomal dominant with incomplete penetrance and
CC       variable expressivity. {ECO:0000269|PubMed:30046003}. Note=The disease
CC       is caused by variants affecting the gene represented in this entry.
CC       Germline variants in SAMD9L with a suppressive effect on the cell cycle
CC       are associated with somatic loss of the chromosome 7 harboring the
CC       mutant allele. This results in the deletion of several genes and
CC       predisposes to the development of myelodysplastic syndrome and acute
CC       myelogenous leukemia. {ECO:0000269|PubMed:30046003}.
CC   -!- MISCELLANEOUS: [Isoform 2]: Dubious isoform produced through aberrant
CC       splice sites. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAI27118.1; Type=Frameshift; Evidence={ECO:0000305};
CC       Sequence=AAI27119.1; Type=Frameshift; Evidence={ECO:0000305};
CC       Sequence=BAC04975.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=BAC23102.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=CAD38910.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; AY195582; AAP57709.1; -; mRNA.
DR   EMBL; AY195583; AAP57710.1; -; mRNA.
DR   EMBL; AY195584; AAP57711.1; -; mRNA.
DR   EMBL; AY195585; AAP57712.1; -; mRNA.
DR   EMBL; AY195586; AAP57713.1; -; mRNA.
DR   EMBL; AY195588; AAP57714.1; -; mRNA.
DR   EMBL; AF474973; AAQ05771.1; -; mRNA.
DR   EMBL; DQ068177; AAY98793.1; -; mRNA.
DR   EMBL; AB095926; BAC23102.1; ALT_INIT; mRNA.
DR   EMBL; CH236949; EAL24144.1; -; Genomic_DNA.
DR   EMBL; CH471091; EAW76824.1; -; Genomic_DNA.
DR   EMBL; CH471091; EAW76825.1; -; Genomic_DNA.
DR   EMBL; BC029108; AAH29108.1; ALT_TERM; mRNA.
DR   EMBL; BC038974; AAH38974.1; ALT_SEQ; mRNA.
DR   EMBL; BC127117; AAI27118.1; ALT_FRAME; mRNA.
DR   EMBL; BC127118; AAI27119.1; ALT_FRAME; mRNA.
DR   EMBL; AK097204; BAC04975.1; ALT_INIT; mRNA.
DR   EMBL; AL834232; CAD38910.1; ALT_INIT; mRNA.
DR   CCDS; CCDS34681.1; -. [Q8IVG5-1]
DR   RefSeq; NP_001290425.1; NM_001303496.1. [Q8IVG5-1]
DR   RefSeq; NP_001290426.1; NM_001303497.1. [Q8IVG5-1]
DR   RefSeq; NP_001290427.1; NM_001303498.1. [Q8IVG5-1]
DR   RefSeq; NP_001290429.1; NM_001303500.1. [Q8IVG5-1]
DR   RefSeq; NP_689916.2; NM_152703.3. [Q8IVG5-1]
DR   RefSeq; XP_005250250.1; XM_005250193.3.
DR   RefSeq; XP_006715953.1; XM_006715890.1.
DR   RefSeq; XP_011514205.1; XM_011515903.2.
DR   RefSeq; XP_016867311.1; XM_017011822.1.
DR   RefSeq; XP_016867312.1; XM_017011823.1.
DR   AlphaFoldDB; Q8IVG5; -.
DR   SMR; Q8IVG5; -.
DR   BioGRID; 128519; 5.
DR   IntAct; Q8IVG5; 6.
DR   MINT; Q8IVG5; -.
DR   STRING; 9606.ENSP00000326247; -.
DR   GlyGen; Q8IVG5; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q8IVG5; -.
DR   PhosphoSitePlus; Q8IVG5; -.
DR   BioMuta; SAMD9L; -.
DR   DMDM; 146325547; -.
DR   EPD; Q8IVG5; -.
DR   jPOST; Q8IVG5; -.
DR   MassIVE; Q8IVG5; -.
DR   MaxQB; Q8IVG5; -.
DR   PaxDb; Q8IVG5; -.
DR   PeptideAtlas; Q8IVG5; -.
DR   PRIDE; Q8IVG5; -.
DR   ProteomicsDB; 70702; -. [Q8IVG5-1]
DR   ProteomicsDB; 70703; -. [Q8IVG5-2]
DR   Antibodypedia; 15645; 108 antibodies from 19 providers.
DR   DNASU; 219285; -.
DR   Ensembl; ENST00000318238.9; ENSP00000326247.4; ENSG00000177409.12. [Q8IVG5-1]
DR   Ensembl; ENST00000411955.5; ENSP00000405760.1; ENSG00000177409.12. [Q8IVG5-1]
DR   Ensembl; ENST00000437805.5; ENSP00000408796.1; ENSG00000177409.12. [Q8IVG5-1]
DR   Ensembl; ENST00000610760.1; ENSP00000484397.1; ENSG00000177409.12. [Q8IVG5-2]
DR   GeneID; 219285; -.
DR   KEGG; hsa:219285; -.
DR   MANE-Select; ENST00000318238.9; ENSP00000326247.4; NM_152703.5; NP_689916.2.
DR   UCSC; uc003umh.2; human. [Q8IVG5-1]
DR   CTD; 219285; -.
DR   DisGeNET; 219285; -.
DR   GeneCards; SAMD9L; -.
DR   GeneReviews; SAMD9L; -.
DR   HGNC; HGNC:1349; SAMD9L.
DR   HPA; ENSG00000177409; Tissue enhanced (lymphoid).
DR   MalaCards; SAMD9L; -.
DR   MIM; 159550; phenotype.
DR   MIM; 252270; phenotype.
DR   MIM; 611170; gene.
DR   neXtProt; NX_Q8IVG5; -.
DR   OpenTargets; ENSG00000177409; -.
DR   Orphanet; 2585; Ataxia-pancytopenia syndrome.
DR   Orphanet; 619367; SAMD9L-associated autoinflammatory syndrome.
DR   PharmGKB; PA25949; -.
DR   VEuPathDB; HostDB:ENSG00000177409; -.
DR   eggNOG; ENOG502QPY6; Eukaryota.
DR   GeneTree; ENSGT00390000013973; -.
DR   HOGENOM; CLU_002439_0_0_1; -.
DR   InParanoid; Q8IVG5; -.
DR   OMA; QIYQRWK; -.
DR   OrthoDB; 29718at2759; -.
DR   PhylomeDB; Q8IVG5; -.
DR   TreeFam; TF331842; -.
DR   PathwayCommons; Q8IVG5; -.
DR   SignaLink; Q8IVG5; -.
DR   BioGRID-ORCS; 219285; 17 hits in 1067 CRISPR screens.
DR   ChiTaRS; SAMD9L; human.
DR   GenomeRNAi; 219285; -.
DR   Pharos; Q8IVG5; Tbio.
DR   PRO; PR:Q8IVG5; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q8IVG5; protein.
DR   Bgee; ENSG00000177409; Expressed in pancreatic ductal cell and 157 other tissues.
DR   ExpressionAtlas; Q8IVG5; baseline and differential.
DR   Genevisible; Q8IVG5; HS.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0005769; C:early endosome; IEA:UniProtKB-SubCell.
DR   Gene3D; 1.10.150.50; -; 1.
DR   InterPro; IPR001660; SAM.
DR   InterPro; IPR013761; SAM/pointed_sf.
DR   SUPFAM; SSF47769; SSF47769; 1.
DR   PROSITE; PS50105; SAM_DOMAIN; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Disease variant; Endosome; Reference proteome.
FT   CHAIN           1..1584
FT                   /note="Sterile alpha motif domain-containing protein 9-
FT                   like"
FT                   /id="PRO_0000279498"
FT   DOMAIN          14..79
FT                   /note="SAM"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00184"
FT   REGION          76..122
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        79..122
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         154..1331
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:17407603"
FT                   /id="VSP_027875"
FT   VARIANT         266
FT                   /note="V -> I (in dbSNP:rs10488532)"
FT                   /id="VAR_030911"
FT   VARIANT         289
FT                   /note="F -> S (in dbSNP:rs2073793)"
FT                   /id="VAR_030912"
FT   VARIANT         880
FT                   /note="H -> Q (in ATXPC and M7MLS1; dbSNP:rs878855336)"
FT                   /evidence="ECO:0000269|PubMed:27259050,
FT                   ECO:0000269|PubMed:30046003"
FT                   /id="VAR_077034"
FT   VARIANT         986
FT                   /note="R -> C (in M7MLS1)"
FT                   /evidence="ECO:0000269|PubMed:30046003"
FT                   /id="VAR_085144"
FT   VARIANT         1137
FT                   /note="G -> A (in dbSNP:rs17165111)"
FT                   /id="VAR_030913"
FT   VARIANT         1196
FT                   /note="C -> S (in ATXPC; unknown pathological significance;
FT                   dbSNP:rs878855337)"
FT                   /evidence="ECO:0000269|PubMed:27259050"
FT                   /id="VAR_077035"
FT   VARIANT         1281
FT                   /note="R -> K (in M7MLS1)"
FT                   /evidence="ECO:0000269|PubMed:30046003"
FT                   /id="VAR_085145"
FT   VARIANT         1512
FT                   /note="V -> A (in M7MLS1)"
FT                   /evidence="ECO:0000269|PubMed:30046003"
FT                   /id="VAR_085146"
FT   VARIANT         1516
FT                   /note="N -> T (in dbSNP:rs10282508)"
FT                   /id="VAR_030914"
SQ   SEQUENCE   1584 AA;  184533 MW;  A9C52976D47AE79B CRC64;
     MSKQVSLPEM IKDWTKEHVK KWVNEDLKIN EQYGQILLSE EVTGLVLQEL TEKDLVEMGL
     PWGPALLIKR SYNKLNSKSP ESDNHDPGQL DNSKPSKTEH QKNPKHTKKE EENSMSSNID
     YDPREIRDIK QEESILMKEN VLDEVANAKH KKKGKLKPEQ LTCMPYPFDQ FHDSHRYIEH
     YTLQPETGAL NLIDPIHEFK ALTNTETATE VDIKMKFSNE VFRFASACMN SRTNGTIHFG
     VKDKPHGEIV GVKITSKAAF IDHFNVMIKK YFEESEINEA KKCIREPRFV EVLLQNNTPS
     DRFVIEVDTI PKHSICNDKY FYIQMQICKD KIWKQNQNLS LFVREGASSR DILANSKQRD
     VDFKAFLQNL KSLVASRKEA EEEYGMKAMK KESEGLKLVK LLIGNRDSLD NSYYDWYILV
     TNKCHPNQIK HLDFLKEIKW FAVLEFDPES MINGVVKAYK ESRVANLHFP NQYEDKTTNM
     WEKISTLNLY QQPSWIFCNG RSDLKSETYK PLEPHLWQRE RASEVRKLIL FLTDENIMTR
     GKFLVVFLLL SSVESPGDPL IETFWAFYQA LKGMENMLCI SVNSHIYQRW KDLLQTRMKM
     EDELTNHSIS TLNIELVNST ILKLKSVTRS SRRFLPARGS SSVILEKKKE DVLTALEILC
     ENECTETDIE KDKSKFLEFK KSKEEHFYRG GKVSWWNFYF SSENYSSDFV KRDSYEKLKD
     LIHCWAESPK PIFAKIINLY HHPGCGGTTL AMHVLWDLKK NFRCAVLKNK TTDFAEIAEQ
     VINLVTYRAK SHQDYIPVLL LVDDFEEQEN VYFLQNAIHS VLAEKDLRYE KTLVIILNCM
     RSRNPDESAK LADSIALNYQ LSSKEQRAFG AKLKEIEKQH KNCENFYSFM IMKSNFDETY
     IENVVRNILK GQDVDSKEAQ LISFLALLSS YVTDSTISVS QCEIFLGIIY TSTPWEPESL
     EDKMGTYSTL LIKTEVAEYG RYTGVRIIHP LIALYCLKEL ERSYHLDKCQ IALNILEENL
     FYDSGIGRDK FQHDVQTLLL TRQRKVYGDE TDTLFSPLME ALQNKDIEKV LSAGSRRFPQ
     NAFICQALAR HFYIKEKDFN TALDWARQAK MKAPKNSYIS DTLGQVYKSE IKWWLDGNKN
     CRSITVNDLT HLLEAAEKAS RAFKESQRQT DSKNYETENW SPQKSQRRYD MYNTACFLGE
     IEVGLYTIQI LQLTPFFHKE NELSKKHMVQ FLSGKWTIPP DPRNECYLAL SKFTSHLKNL
     QSDLKRCFDF FIDYMVLLKM RYTQKEIAEI MLSKKVSRCF RKYTELFCHL DPCLLQSKES
     QLLQEENCRK KLEALRADRF AGLLEYLNPN YKDATTMESI VNEYAFLLQQ NSKKPMTNEK
     QNSILANIIL SCLKPNSKLI QPLTTLKKQL REVLQFVGLS HQYPGPYFLA CLLFWPENQE
     LDQDSKLIEK YVSSLNRSFR GQYKRMCRSK QASTLFYLGK RKGLNSIVHK AKIEQYFDKA
     QNTNSLWHSG DVWKKNEVKD LLRRLTGQAE GKLISVEYGT EEKIKIPVIS VYSGPLRSGR
     NIERVSFYLG FSIEGPLAYD IEVI
 
 
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