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TBX22_HUMAN
ID   TBX22_HUMAN             Reviewed;         520 AA.
AC   Q9Y458; Q5JZ06; Q96LC0; Q9HBF1;
DT   11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT   12-FEB-2003, sequence version 3.
DT   03-AUG-2022, entry version 186.
DE   RecName: Full=T-box transcription factor TBX22;
DE            Short=T-box protein 22;
GN   Name=TBX22; Synonyms=TBOX22;
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] (ISOFORM 2).
RX   PubMed=11024289; DOI=10.1016/s0378-1119(00)00326-7;
RA   Laugier-Anfossi F., Villard L.;
RT   "Molecular characterization of a new human T-box gene (TBX22) located in
RT   Xq21.1 encoding a protein containing a truncated T-domain.";
RL   Gene 255:289-296(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANTS CPX
RP   CYS-118 AND MET-260.
RX   PubMed=11559848; DOI=10.1038/ng730;
RA   Braybrook C., Doudney K., Marcano A.C., Arnason A., Bjornsson A.,
RA   Patton M.A., Goodfellow P.J., Moore G.E., Stanier P.;
RT   "The T-box transcription factor gene TBX22 is mutated in X-linked cleft
RT   palate and ankyloglossia.";
RL   Nat. Genet. 29:179-183(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15772651; DOI=10.1038/nature03440;
RA   Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA   Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA   Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA   Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA   Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA   Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA   Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA   Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA   Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA   Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA   Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA   Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA   Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA   Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA   Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA   Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA   Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA   Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA   Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA   Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA   Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA   Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA   Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA   Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA   Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA   Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA   Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA   Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA   Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA   Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA   McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA   Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA   Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA   Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA   Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA   Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA   Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA   Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA   Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA   Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA   d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA   Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA   Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA   Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA   Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA   Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA   Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA   Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA   Rogers J., Bentley D.R.;
RT   "The DNA sequence of the human X chromosome.";
RL   Nature 434:325-337(2005).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton 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 MRNA] (ISOFORM 1).
RC   TISSUE=Skin;
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   [6]
RP   INVOLVEMENT IN ABERS.
RX   PubMed=22784330; DOI=10.1111/j.1399-0004.2012.01930.x;
RA   Pauws E., Peskett E., Boissin C., Hoshino A., Mengrelis K., Carta E.,
RA   Abruzzo M.A., Lees M., Moore G.E., Erickson R.P., Stanier P.;
RT   "X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate
RT   with ankyloglossia result from TBX22 splicing mutations.";
RL   Clin. Genet. 83:352-358(2013).
RN   [7]
RP   VARIANTS CPX SER-195 INS AND PRO-214.
RX   PubMed=12374769; DOI=10.1093/hmg/11.22.2793;
RA   Braybrook C., Lisgo S., Doudney K., Henderson D., Marcano A.C.B.,
RA   Strachan T., Patton M.A., Villard L., Moore G.E., Stanier P., Lindsay S.;
RT   "Craniofacial expression of human and murine TBX22 correlates with the
RT   cleft palate and ankyloglossia phenotype observed in CPX patients.";
RL   Hum. Mol. Genet. 11:2793-2804(2002).
RN   [8]
RP   VARIANTS CPX VAL-121; LEU-183 AND TYR-264, AND VARIANT LYS-187.
RX   PubMed=14729838; DOI=10.1136/jmg.2003.010868;
RA   Marcano A.C.B., Doudney K., Braybrook C., Squires R., Patton M.A.,
RA   Lees M.M., Richieri-Costa A., Lidral A.C., Murray J.C., Moore G.E.,
RA   Stanier P.;
RT   "TBX22 mutations are a frequent cause of cleft palate.";
RL   J. Med. Genet. 41:68-74(2004).
RN   [9]
RP   VARIANTS [LARGE SCALE ANALYSIS] ALA-16; THR-51 AND ASN-307.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
RN   [10]
RP   VARIANT TYR-249.
RX   PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA   de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA   Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA   del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA   Veltman J.A., Vissers L.E.;
RT   "Diagnostic exome sequencing in persons with severe intellectual
RT   disability.";
RL   N. Engl. J. Med. 367:1921-1929(2012).
CC   -!- FUNCTION: Probable transcriptional regulator involved in developmental
CC       processes. This is major determinant crucial to palatogenesis.
CC   -!- INTERACTION:
CC       Q9Y458; P54253: ATXN1; NbExp=3; IntAct=EBI-6427217, EBI-930964;
CC       Q9Y458; P54252: ATXN3; NbExp=3; IntAct=EBI-6427217, EBI-946046;
CC       Q9Y458; P31273: HOXC8; NbExp=3; IntAct=EBI-6427217, EBI-1752118;
CC       Q9Y458; P42858: HTT; NbExp=12; IntAct=EBI-6427217, EBI-466029;
CC       Q9Y458; P78337: PITX1; NbExp=3; IntAct=EBI-6427217, EBI-748265;
CC       Q9Y458; Q99697-2: PITX2; NbExp=3; IntAct=EBI-6427217, EBI-12138495;
CC       Q9Y458; O75360: PROP1; NbExp=3; IntAct=EBI-6427217, EBI-9027467;
CC       Q9Y458; Q13148: TARDBP; NbExp=6; IntAct=EBI-6427217, EBI-372899;
CC       Q9Y458; O43711: TLX3; NbExp=3; IntAct=EBI-6427217, EBI-3939165;
CC       Q9Y458; O95231: VENTX; NbExp=6; IntAct=EBI-6427217, EBI-10191303;
CC       Q9Y458; Q5VVQ6: YOD1; NbExp=3; IntAct=EBI-6427217, EBI-2510804;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9Y458-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9Y458-2; Sequence=VSP_040987;
CC   -!- TISSUE SPECIFICITY: Seems to be expressed at a low level.
CC   -!- DISEASE: Cleft palate with or without ankyloglossia, X-linked (CPX)
CC       [MIM:303400]: A congenital mouth abnormality characterized by fissure
CC       of the soft and/or hard palate, due to faulty fusion. Some patients
CC       also manifest ankyloglossia, a condition in which movements of the
CC       tongue are restricted. Complete ankyloglossia is due to fusion between
CC       the tongue and the floor of the mouth. Partial ankyloglossia is due to
CC       a short lingual frenum or one which is attached too near the tip of the
CC       tongue. {ECO:0000269|PubMed:11559848, ECO:0000269|PubMed:12374769,
CC       ECO:0000269|PubMed:14729838}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- DISEASE: Abruzzo-Erickson syndrome (ABERS) [MIM:302905]: A disease
CC       characterized by cleft palate, coloboma, hypospadias, deafness, short
CC       stature, and radial synostosis. {ECO:0000269|PubMed:22784330}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
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DR   EMBL; AY035371; AAK63189.1; -; mRNA.
DR   EMBL; AL031000; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471104; EAW98588.1; -; Genomic_DNA.
DR   EMBL; BC014194; AAH14194.2; -; mRNA.
DR   EMBL; AF251684; AAG23749.1; -; mRNA.
DR   CCDS; CCDS14445.1; -. [Q9Y458-1]
DR   RefSeq; NP_001103348.1; NM_001109878.1. [Q9Y458-1]
DR   RefSeq; NP_001103349.1; NM_001109879.1. [Q9Y458-2]
DR   RefSeq; NP_001290404.1; NM_001303475.1. [Q9Y458-2]
DR   RefSeq; NP_058650.1; NM_016954.2. [Q9Y458-1]
DR   RefSeq; XP_011529274.1; XM_011530972.1.
DR   AlphaFoldDB; Q9Y458; -.
DR   SMR; Q9Y458; -.
DR   BioGRID; 119172; 11.
DR   ELM; Q9Y458; -.
DR   IntAct; Q9Y458; 15.
DR   STRING; 9606.ENSP00000362390; -.
DR   iPTMnet; Q9Y458; -.
DR   PhosphoSitePlus; Q9Y458; -.
DR   BioMuta; TBX22; -.
DR   DMDM; 28381405; -.
DR   MassIVE; Q9Y458; -.
DR   PaxDb; Q9Y458; -.
DR   PeptideAtlas; Q9Y458; -.
DR   PRIDE; Q9Y458; -.
DR   ProteomicsDB; 86105; -. [Q9Y458-1]
DR   ProteomicsDB; 86106; -. [Q9Y458-2]
DR   Antibodypedia; 510; 215 antibodies from 28 providers.
DR   DNASU; 50945; -.
DR   Ensembl; ENST00000373294.8; ENSP00000362390.5; ENSG00000122145.15. [Q9Y458-1]
DR   Ensembl; ENST00000373296.8; ENSP00000362393.3; ENSG00000122145.15. [Q9Y458-1]
DR   Ensembl; ENST00000619509.1; ENSP00000479825.1; ENSG00000277800.3. [Q9Y458-1]
DR   Ensembl; ENST00000628957.2; ENSP00000487295.1; ENSG00000277800.3. [Q9Y458-1]
DR   GeneID; 50945; -.
DR   KEGG; hsa:50945; -.
DR   MANE-Select; ENST00000373296.8; ENSP00000362393.3; NM_001109878.2; NP_001103348.1.
DR   UCSC; uc004edj.2; human. [Q9Y458-1]
DR   CTD; 50945; -.
DR   DisGeNET; 50945; -.
DR   GeneCards; TBX22; -.
DR   HGNC; HGNC:11600; TBX22.
DR   HPA; ENSG00000122145; Group enriched (testis, thyroid gland).
DR   MalaCards; TBX22; -.
DR   MIM; 300307; gene.
DR   MIM; 302905; phenotype.
DR   MIM; 303400; phenotype.
DR   neXtProt; NX_Q9Y458; -.
DR   OpenTargets; ENSG00000122145; -.
DR   Orphanet; 921; Abruzzo-Erickson syndrome.
DR   Orphanet; 324601; X-linked cleft palate and ankyloglossia.
DR   PharmGKB; PA36363; -.
DR   VEuPathDB; HostDB:ENSG00000122145; -.
DR   eggNOG; KOG3586; Eukaryota.
DR   GeneTree; ENSGT00940000161206; -.
DR   HOGENOM; CLU_030727_1_0_1; -.
DR   InParanoid; Q9Y458; -.
DR   OMA; PCPEVYL; -.
DR   PhylomeDB; Q9Y458; -.
DR   TreeFam; TF106341; -.
DR   PathwayCommons; Q9Y458; -.
DR   SignaLink; Q9Y458; -.
DR   SIGNOR; Q9Y458; -.
DR   BioGRID-ORCS; 50945; 17 hits in 716 CRISPR screens.
DR   ChiTaRS; TBX22; human.
DR   GeneWiki; TBX22; -.
DR   GenomeRNAi; 50945; -.
DR   Pharos; Q9Y458; Tbio.
DR   PRO; PR:Q9Y458; -.
DR   Proteomes; UP000005640; Chromosome X.
DR   RNAct; Q9Y458; protein.
DR   Bgee; ENSG00000122145; Expressed in left testis and 36 other tissues.
DR   ExpressionAtlas; Q9Y458; baseline and differential.
DR   Genevisible; Q9Y458; HS.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
DR   GO; GO:0003677; F:DNA binding; IDA:BHF-UCL.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR   GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR   GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:BHF-UCL.
DR   GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:BHF-UCL.
DR   GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IEA:InterPro.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   CDD; cd00182; TBOX; 1.
DR   Gene3D; 2.60.40.820; -; 1.
DR   InterPro; IPR008967; p53-like_TF_DNA-bd.
DR   InterPro; IPR046360; T-box_DNA-bd.
DR   InterPro; IPR036960; T-box_sf.
DR   InterPro; IPR001699; TF_T-box.
DR   InterPro; IPR018186; TF_T-box_CS.
DR   PANTHER; PTHR11267; PTHR11267; 1.
DR   Pfam; PF00907; T-box; 1.
DR   PRINTS; PR00937; TBOX.
DR   SMART; SM00425; TBOX; 1.
DR   SUPFAM; SSF49417; SSF49417; 1.
DR   PROSITE; PS01283; TBOX_1; 1.
DR   PROSITE; PS01264; TBOX_2; 1.
DR   PROSITE; PS50252; TBOX_3; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Deafness; Disease variant; DNA-binding; Dwarfism;
KW   Nucleus; Reference proteome; Transcription; Transcription regulation.
FT   CHAIN           1..520
FT                   /note="T-box transcription factor TBX22"
FT                   /id="PRO_0000184455"
FT   DNA_BIND        96..283
FT                   /note="T-box"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT   REGION          1..91
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        24..61
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        62..87
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1..120
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:11024289"
FT                   /id="VSP_040987"
FT   VARIANT         16
FT                   /note="V -> A (in a colorectal cancer sample; somatic
FT                   mutation)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_036066"
FT   VARIANT         51
FT                   /note="A -> T (in a colorectal cancer sample; somatic
FT                   mutation)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_036067"
FT   VARIANT         118
FT                   /note="G -> C (in CPX; dbSNP:rs104894944)"
FT                   /evidence="ECO:0000269|PubMed:11559848"
FT                   /id="VAR_015383"
FT   VARIANT         121
FT                   /note="M -> V (in CPX)"
FT                   /evidence="ECO:0000269|PubMed:14729838"
FT                   /id="VAR_021831"
FT   VARIANT         183
FT                   /note="P -> L (in CPX)"
FT                   /evidence="ECO:0000269|PubMed:14729838"
FT                   /id="VAR_021832"
FT   VARIANT         187
FT                   /note="E -> K (in dbSNP:rs34244923)"
FT                   /evidence="ECO:0000269|PubMed:14729838"
FT                   /id="VAR_021833"
FT   VARIANT         195
FT                   /note="S -> SS (in CPX)"
FT                   /evidence="ECO:0000269|PubMed:12374769"
FT                   /id="VAR_069900"
FT   VARIANT         214
FT                   /note="L -> P (in CPX; dbSNP:rs104894946)"
FT                   /evidence="ECO:0000269|PubMed:12374769"
FT                   /id="VAR_021829"
FT   VARIANT         249
FT                   /note="F -> Y"
FT                   /evidence="ECO:0000269|PubMed:23033978"
FT                   /id="VAR_069416"
FT   VARIANT         260
FT                   /note="T -> M (in CPX; dbSNP:rs104894943)"
FT                   /evidence="ECO:0000269|PubMed:11559848"
FT                   /id="VAR_015384"
FT   VARIANT         264
FT                   /note="N -> Y (in CPX; dbSNP:rs28935177)"
FT                   /evidence="ECO:0000269|PubMed:14729838"
FT                   /id="VAR_021830"
FT   VARIANT         307
FT                   /note="D -> N (in a colorectal cancer sample; somatic
FT                   mutation; dbSNP:rs750292974)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_036068"
SQ   SEQUENCE   520 AA;  57910 MW;  1502E19245CC2C93 CRC64;
     MALSSRARAF SVEALVGRPS KRKLQDPIQA EQPELREKKG GEEEEERRSS AAGKSEPLEK
     QPKTEPSTSA SSGCGSDSGY GNSSESLEEK DIQMELQGSE LWKRFHDIGT EMIITKAGRR
     MFPSVRVKVK GLDPGKQYHV AIDVVPVDSK RYRYVYHSSQ WMVAGNTDHL CIIPRFYVHP
     DSPCSGETWM RQIISFDRMK LTNNEMDDKG HIILQSMHKY KPRVHVIEQG SSVDLSQIQS
     LPTEGVKTFS FKETEFTTVT AYQNQQITKL KIERNPFAKG FRDTGRNRGV LDGLLETYPW
     RPSFTLDFKT FGADTQSGSS GSSPVTSSGG APSPLNSLLS PLCFSPMFHL PTSSLGMPCP
     EAYLPNVNLP LCYKICPTNF WQQQPLVLPA PERLASSNSS QSLAPLMMEV PMLSSLGVTN
     SKSGSSEDSS DQYLQAPNST NQMLYGLQSP GNIFLPNSIT PEALSCSFHP SYDFYRYNFS
     MPSRLISGSN HLKVNDDSQV SFGEGKCNHV HWYPAINHYL
 
 
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