CXA5_HUMAN
ID CXA5_HUMAN Reviewed; 358 AA.
AC P36382; Q5T3B6; Q5U0N6;
DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 3.
DT 03-AUG-2022, entry version 195.
DE RecName: Full=Gap junction alpha-5 protein;
DE AltName: Full=Connexin-40;
DE Short=Cx40;
GN Name=GJA5;
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 [GENOMIC DNA].
RX PubMed=7966354; DOI=10.1006/jmcc.1994.1103;
RA Kanter H.L., Saffitz J.E., Beyer E.C.;
RT "Molecular cloning of two human cardiac gap junction proteins, connexin40
RT and connexin45.";
RL J. Mol. Cell. Cardiol. 26:861-868(1994).
RN [2]
RP SEQUENCE REVISION.
RA Beyer E.C., Christensen E.A.;
RL Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Lin H.H., Jin N., Kiang D.T.;
RT "Nucleotide sequence of protein-coding region of human connexin 40 gene.";
RL Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10581143; DOI=10.1053/euhj.1999.1718;
RA Haefliger J.-A., Goy J.J., Waeber G.;
RT "Sporadic cases of dilated cardiomyopathies associated with
RT atrioventricular conduction defects are not linked to mutation within the
RT connexins 40 and 43 genes.";
RL Eur. Heart J. 20:1843-1843(1999).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
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 [8]
RP VARIANTS ATRST1 SER-88 AND SER-96.
RX PubMed=16790700; DOI=10.1056/nejmoa052800;
RA Gollob M.H., Jones D.L., Krahn A.D., Danis L., Gong X.Q., Shao Q., Liu X.,
RA Veinot J.P., Tang A.S., Stewart A.F., Tesson F., Klein G.J., Yee R.,
RA Skanes A.C., Guiraudon G.M., Ebihara L., Bai D.;
RT "Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.";
RL N. Engl. J. Med. 354:2677-2688(2006).
RN [9]
RP VARIANTS ATFB11 ILE-85; ILE-221 AND MET-229.
RX PubMed=20650941; DOI=10.1093/europace/euq274;
RA Yang Y.Q., Liu X., Zhang X.L., Wang X.H., Tan H.W., Shi H.F., Jiang W.F.,
RA Fang W.Y.;
RT "Novel connexin40 missense mutations in patients with familial atrial
RT fibrillation.";
RL Europace 12:1421-1427(2010).
CC -!- FUNCTION: One gap junction consists of a cluster of closely packed
CC pairs of transmembrane channels, the connexons, through which materials
CC of low MW diffuse from one cell to a neighboring cell.
CC -!- SUBUNIT: A connexon is composed of a hexamer of connexins.
CC -!- INTERACTION:
CC P36382; O95870: ABHD16A; NbExp=3; IntAct=EBI-750433, EBI-348517;
CC P36382; P62952: BLCAP; NbExp=3; IntAct=EBI-750433, EBI-3895726;
CC P36382; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-750433, EBI-12003442;
CC P36382; P27797: CALR; NbExp=3; IntAct=EBI-750433, EBI-1049597;
CC P36382; P36957: DLST; NbExp=3; IntAct=EBI-750433, EBI-351007;
CC P36382; P54852: EMP3; NbExp=3; IntAct=EBI-750433, EBI-3907816;
CC P36382; P29033: GJB2; NbExp=3; IntAct=EBI-750433, EBI-3905204;
CC P36382; P24593: IGFBP5; NbExp=3; IntAct=EBI-750433, EBI-720480;
CC P36382; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-750433, EBI-1055254;
CC P36382; O15243: LEPROT; NbExp=3; IntAct=EBI-750433, EBI-15672507;
CC P36382; O95214: LEPROTL1; NbExp=3; IntAct=EBI-750433, EBI-750776;
CC P36382; Q6ZUX7: LHFPL2; NbExp=3; IntAct=EBI-750433, EBI-17566767;
CC P36382; Q6N075: MFSD5; NbExp=3; IntAct=EBI-750433, EBI-3920969;
CC P36382; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-750433, EBI-12070086;
CC P36382; Q8TDX7: NEK7; NbExp=3; IntAct=EBI-750433, EBI-1055945;
CC P36382; Q6P499: NIPAL3; NbExp=3; IntAct=EBI-750433, EBI-10252783;
CC P36382; Q16617: NKG7; NbExp=3; IntAct=EBI-750433, EBI-3919611;
CC P36382; Q9UHJ9-5: PGAP2; NbExp=3; IntAct=EBI-750433, EBI-12092917;
CC P36382; O60831: PRAF2; NbExp=3; IntAct=EBI-750433, EBI-2506064;
CC P36382; Q9NS64: RPRM; NbExp=3; IntAct=EBI-750433, EBI-1052363;
CC P36382; Q9UKG4: SLC13A4; NbExp=3; IntAct=EBI-750433, EBI-12808018;
CC P36382; Q9BRI3: SLC30A2; NbExp=3; IntAct=EBI-750433, EBI-8644112;
CC P36382; Q5T1Q4: SLC35F1; NbExp=3; IntAct=EBI-750433, EBI-13365456;
CC P36382; Q8IVJ1: SLC41A1; NbExp=3; IntAct=EBI-750433, EBI-12266234;
CC P36382; Q96JW4: SLC41A2; NbExp=3; IntAct=EBI-750433, EBI-10290130;
CC P36382; Q6ZP29-3: SLC66A1; NbExp=3; IntAct=EBI-750433, EBI-12889586;
CC P36382; P55061: TMBIM6; NbExp=3; IntAct=EBI-750433, EBI-1045825;
CC P36382; Q6UX40: TMEM107; NbExp=3; IntAct=EBI-750433, EBI-12845616;
CC P36382; Q9NSU2-1: TREX1; NbExp=3; IntAct=EBI-750433, EBI-16746122;
CC P36382; Q86Y07: VRK2; NbExp=3; IntAct=EBI-750433, EBI-1207615;
CC P36382; Q96EC8: YIPF6; NbExp=3; IntAct=EBI-750433, EBI-751210;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell
CC junction, gap junction.
CC -!- DISEASE: Atrial standstill 1 (ATRST1) [MIM:108770]: A rare arrhythmia
CC characterized by the absence of electrical and mechanical activity in
CC the atria. Electrocardiographically, it is characterized by
CC bradycardia, the absence of P waves, and a junctional narrow complex
CC escape rhythm. {ECO:0000269|PubMed:16790700}. Note=The disease may be
CC caused by variants affecting distinct genetic loci, including the gene
CC represented in this entry. A rare GJA5 genotype has been detected in
CC combination with a mutation in SCN5A in a large family with atrial
CC standstill.
CC -!- DISEASE: Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]: A
CC familial form of atrial fibrillation, a common sustained cardiac rhythm
CC disturbance. Atrial fibrillation is characterized by disorganized
CC atrial electrical activity and ineffective atrial contraction promoting
CC blood stasis in the atria and reduces ventricular filling. It can
CC result in palpitations, syncope, thromboembolic stroke, and congestive
CC heart failure. {ECO:0000269|PubMed:20650941}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the connexin family. Alpha-type (group II)
CC subfamily. {ECO:0000305}.
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DR EMBL; U03486; AAA60457.2; -; Genomic_DNA.
DR EMBL; L34954; AAA91833.1; -; Genomic_DNA.
DR EMBL; AF151979; AAD37801.1; -; Genomic_DNA.
DR EMBL; BT019415; AAV38222.1; -; mRNA.
DR EMBL; BT019416; AAV38223.1; -; mRNA.
DR EMBL; AL365260; CAI14124.1; -; Genomic_DNA.
DR EMBL; AL365260; CAI14125.1; -; Genomic_DNA.
DR EMBL; BC013313; AAH13313.1; -; mRNA.
DR CCDS; CCDS929.1; -.
DR PIR; I38429; I38429.
DR RefSeq; NP_005257.2; NM_005266.6.
DR RefSeq; NP_859054.1; NM_181703.3.
DR RefSeq; XP_005273008.1; XM_005272951.4.
DR RefSeq; XP_016856533.1; XM_017001044.1.
DR AlphaFoldDB; P36382; -.
DR SMR; P36382; -.
DR BioGRID; 108969; 36.
DR IntAct; P36382; 34.
DR STRING; 9606.ENSP00000484552; -.
DR TCDB; 1.A.24.1.15; the gap junction-forming connexin (connexin) family.
DR iPTMnet; P36382; -.
DR PhosphoSitePlus; P36382; -.
DR BioMuta; GJA5; -.
DR DMDM; 8928556; -.
DR MassIVE; P36382; -.
DR PaxDb; P36382; -.
DR PeptideAtlas; P36382; -.
DR PRIDE; P36382; -.
DR ProteomicsDB; 55180; -.
DR Antibodypedia; 72405; 299 antibodies from 31 providers.
DR DNASU; 2702; -.
DR Ensembl; ENST00000579774.3; ENSP00000463851.1; ENSG00000265107.3.
DR Ensembl; ENST00000621517.1; ENSP00000484552.1; ENSG00000265107.3.
DR GeneID; 2702; -.
DR KEGG; hsa:2702; -.
DR MANE-Select; ENST00000579774.3; ENSP00000463851.1; NM_181703.4; NP_859054.1.
DR UCSC; uc057kfi.1; human.
DR CTD; 2702; -.
DR DisGeNET; 2702; -.
DR GeneCards; GJA5; -.
DR GeneReviews; GJA5; -.
DR HGNC; HGNC:4279; GJA5.
DR HPA; ENSG00000265107; Tissue enhanced (placenta).
DR MalaCards; GJA5; -.
DR MIM; 108770; phenotype.
DR MIM; 121013; gene.
DR MIM; 614049; phenotype.
DR neXtProt; NX_P36382; -.
DR OpenTargets; ENSG00000265107; -.
DR Orphanet; 334; Familial atrial fibrillation.
DR Orphanet; 3303; Tetralogy of Fallot.
DR PharmGKB; PA28690; -.
DR VEuPathDB; HostDB:ENSG00000265107; -.
DR eggNOG; ENOG502QW11; Eukaryota.
DR GeneTree; ENSGT01050000244864; -.
DR HOGENOM; CLU_037388_0_0_1; -.
DR InParanoid; P36382; -.
DR OMA; FIHIHYG; -.
DR OrthoDB; 992551at2759; -.
DR PhylomeDB; P36382; -.
DR TreeFam; TF329606; -.
DR PathwayCommons; P36382; -.
DR Reactome; R-HSA-190861; Gap junction assembly.
DR SignaLink; P36382; -.
DR SIGNOR; P36382; -.
DR BioGRID-ORCS; 2702; 11 hits in 1062 CRISPR screens.
DR ChiTaRS; GJA5; human.
DR GeneWiki; GJA5; -.
DR GenomeRNAi; 2702; -.
DR Pharos; P36382; Tbio.
DR PRO; PR:P36382; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P36382; protein.
DR Bgee; ENSG00000265107; Expressed in placenta and 123 other tissues.
DR ExpressionAtlas; P36382; baseline and differential.
DR Genevisible; P36382; HS.
DR GO; GO:0042995; C:cell projection; IEA:Ensembl.
DR GO; GO:0005922; C:connexin complex; IDA:BHF-UCL.
DR GO; GO:0005921; C:gap junction; IDA:BHF-UCL.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:BHF-UCL.
DR GO; GO:0014704; C:intercalated disc; IDA:BHF-UCL.
DR GO; GO:0071253; F:connexin binding; IEA:Ensembl.
DR GO; GO:0097718; F:disordered domain specific binding; IEA:Ensembl.
DR GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR GO; GO:0086076; F:gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling; IMP:BHF-UCL.
DR GO; GO:0086077; F:gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling; IDA:BHF-UCL.
DR GO; GO:0086078; F:gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling; IMP:BHF-UCL.
DR GO; GO:0086075; F:gap junction channel activity involved in cardiac conduction electrical coupling; IDA:BHF-UCL.
DR GO; GO:0086079; F:gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling; NAS:BHF-UCL.
DR GO; GO:0086020; F:gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling; NAS:BHF-UCL.
DR GO; GO:0055077; F:gap junction hemi-channel activity; IDA:BHF-UCL.
DR GO; GO:0001525; P:angiogenesis; IEP:UniProtKB.
DR GO; GO:0048844; P:artery morphogenesis; ISS:BHF-UCL.
DR GO; GO:0086044; P:atrial cardiac muscle cell to AV node cell communication by electrical coupling; IMP:BHF-UCL.
DR GO; GO:0003283; P:atrial septum development; IMP:BHF-UCL.
DR GO; GO:0086053; P:AV node cell to bundle of His cell communication by electrical coupling; IMP:BHF-UCL.
DR GO; GO:0086054; P:bundle of His cell to Purkinje myocyte communication by electrical coupling; IMP:BHF-UCL.
DR GO; GO:0003161; P:cardiac conduction system development; ISS:BHF-UCL.
DR GO; GO:0010643; P:cell communication by chemical coupling; IEA:Ensembl.
DR GO; GO:0086064; P:cell communication by electrical coupling involved in cardiac conduction; IDA:BHF-UCL.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:0003158; P:endothelium development; IEA:Ensembl.
DR GO; GO:0016264; P:gap junction assembly; IDA:BHF-UCL.
DR GO; GO:0003174; P:mitral valve development; IMP:BHF-UCL.
DR GO; GO:0045776; P:negative regulation of blood pressure; IEA:Ensembl.
DR GO; GO:0003105; P:negative regulation of glomerular filtration; IEA:Ensembl.
DR GO; GO:0003151; P:outflow tract morphogenesis; IMP:BHF-UCL.
DR GO; GO:0010652; P:positive regulation of cell communication by chemical coupling; IEA:Ensembl.
DR GO; GO:0045907; P:positive regulation of vasoconstriction; IEA:Ensembl.
DR GO; GO:0006813; P:potassium ion transport; IEA:Ensembl.
DR GO; GO:0003193; P:pulmonary valve formation; IMP:BHF-UCL.
DR GO; GO:0086055; P:Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling; NAS:BHF-UCL.
DR GO; GO:0098910; P:regulation of atrial cardiac muscle cell action potential; IMP:BHF-UCL.
DR GO; GO:0060371; P:regulation of atrial cardiac muscle cell membrane depolarization; IMP:BHF-UCL.
DR GO; GO:0098904; P:regulation of AV node cell action potential; IMP:BHF-UCL.
DR GO; GO:0098905; P:regulation of bundle of His cell action potential; IMP:BHF-UCL.
DR GO; GO:0055117; P:regulation of cardiac muscle contraction; IMP:BHF-UCL.
DR GO; GO:0010649; P:regulation of cell communication by electrical coupling; IEA:Ensembl.
DR GO; GO:0098906; P:regulation of Purkinje myocyte action potential; IMP:BHF-UCL.
DR GO; GO:0060373; P:regulation of ventricular cardiac muscle cell membrane depolarization; ISS:BHF-UCL.
DR GO; GO:0060307; P:regulation of ventricular cardiac muscle cell membrane repolarization; ISS:BHF-UCL.
DR GO; GO:0086021; P:SA node cell to atrial cardiac muscle cell communication by electrical coupling; NAS:BHF-UCL.
DR GO; GO:0042311; P:vasodilation; IEA:Ensembl.
DR GO; GO:1990029; P:vasomotion; IEA:Ensembl.
DR GO; GO:0003281; P:ventricular septum development; IMP:BHF-UCL.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR002264; Connexin40.
DR InterPro; IPR034634; Connexin_C.
DR InterPro; IPR019570; Connexin_CCC.
DR InterPro; IPR017990; Connexin_CS.
DR InterPro; IPR013092; Connexin_N.
DR InterPro; IPR038359; Connexin_N_sf.
DR InterPro; IPR031862; Cx40_C.
DR PANTHER; PTHR11984; PTHR11984; 1.
DR PANTHER; PTHR11984:SF13; PTHR11984:SF13; 1.
DR Pfam; PF00029; Connexin; 1.
DR Pfam; PF16791; Connexin40_C; 1.
DR PRINTS; PR00206; CONNEXIN.
DR PRINTS; PR01135; CONNEXINA5.
DR SMART; SM00037; CNX; 1.
DR SMART; SM01089; Connexin_CCC; 1.
DR SUPFAM; SSF118220; SSF118220; 1.
DR PROSITE; PS00407; CONNEXINS_1; 1.
DR PROSITE; PS00408; CONNEXINS_2; 1.
PE 1: Evidence at protein level;
KW Atrial fibrillation; Cardiomyopathy; Cell junction; Cell membrane;
KW Disease variant; Gap junction; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..358
FT /note="Gap junction alpha-5 protein"
FT /id="PRO_0000057819"
FT TOPO_DOM 1..19
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 20..40
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 41..76
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 77..97
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 98..164
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 165..185
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 186..205
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 206..226
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 227..358
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 319..358
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 340..358
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 353
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P28234"
FT MOD_RES 357
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P28234"
FT VARIANT 85
FT /note="V -> I (in ATFB11; dbSNP:rs387906613)"
FT /evidence="ECO:0000269|PubMed:20650941"
FT /id="VAR_066249"
FT VARIANT 88
FT /note="P -> S (in ATRST1; somatic; dbSNP:rs121434558)"
FT /evidence="ECO:0000269|PubMed:16790700"
FT /id="VAR_035013"
FT VARIANT 96
FT /note="A -> S (in ATRST1; dbSNP:rs121434557)"
FT /evidence="ECO:0000269|PubMed:16790700"
FT /id="VAR_035014"
FT VARIANT 221
FT /note="L -> I (in ATFB11; dbSNP:rs387906614)"
FT /evidence="ECO:0000269|PubMed:20650941"
FT /id="VAR_066250"
FT VARIANT 229
FT /note="L -> M (in ATFB11; dbSNP:rs387906615)"
FT /evidence="ECO:0000269|PubMed:20650941"
FT /id="VAR_066251"
SQ SEQUENCE 358 AA; 40380 MW; DE9DD863C130229A CRC64;
MGDWSFLGNF LEEVHKHSTV VGKVWLTVLF IFRMLVLGTA AESSWGDEQA DFRCDTIQPG
CQNVCYDQAF PISHIRYWVL QIIFVSTPSL VYMGHAMHTV RMQEKRKLRE AERAKEVRGS
GSYEYPVAEK AELSCWEEGN GRIALQGTLL NTYVCSILIR TTMEVGFIVG QYFIYGIFLT
TLHVCRRSPC PHPVNCYVSR PTEKNVFIVF MLAVAALSLL LSLAELYHLG WKKIRQRFVK
PRQHMAKCQL SGPSVGIVQS CTPPPDFNQC LENGPGGKFF NPFSNNMASQ QNTDNLVTEQ
VRGQEQTPGE GFIQVRYGQK PEVPNGVSPG HRLPHGYHSD KRRLSKASSK ARSDDLSV
