BTNL8_HUMAN
ID BTNL8_HUMAN Reviewed; 500 AA.
AC Q6UX41; A4QMZ8; A6NEX6; B7Z409; B7Z5B1; E9PEF6; E9PG07; F2Z2B2; F8W712;
AC Q9H730;
DT 01-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Butyrophilin-like protein 8;
DE Flags: Precursor;
GN Name=BTNL8; ORFNames=UNQ702/PRO1347;
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).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 4 AND 7), AND VARIANT
RP LYS-326.
RC TISSUE=Colon;
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] (ISOFORM 5).
RC TISSUE=Colon;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 6), AND VARIANTS
RP ALA-143; LYS-229; GLN-311 AND THR-477.
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 PROTEIN SEQUENCE OF 18-32.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
RN [8]
RP IDENTIFICATION OF ISOFORMS 1 AND 5, FUNCTION, TISSUE SPECIFICITY, AND
RP INDUCTION BY LPS AND TNF.
RC TISSUE=Colon;
RX PubMed=24036152; DOI=10.1016/j.molimm.2013.08.003;
RA Chapoval A.I., Smithson G., Brunick L., Mesri M., Boldog F.L., Andrew D.,
RA Khramtsov N.V., Feshchenko E.A., Starling G.C., Mezes P.S.;
RT "BTNL8, a butyrophilin-like molecule that costimulates the primary immune
RT response.";
RL Mol. Immunol. 56:819-828(2013).
CC -!- FUNCTION: May stimulate primary immune response. Acts on T-cell
CC stimulated sub-optimally through the TCR/CD3 complex stimulating their
CC proliferation and cytokine production. {ECO:0000269|PubMed:24036152}.
CC -!- INTERACTION:
CC Q6UX41; Q6UXE8: BTNL3; NbExp=2; IntAct=EBI-4314379, EBI-21583619;
CC Q6UX41; P04155: TFF1; NbExp=3; IntAct=EBI-4314379, EBI-743871;
CC Q6UX41-6; O00501: CLDN5; NbExp=3; IntAct=EBI-17442596, EBI-18400628;
CC Q6UX41-6; Q9UM44: HHLA2; NbExp=3; IntAct=EBI-17442596, EBI-2867874;
CC Q6UX41-6; P38484: IFNGR2; NbExp=3; IntAct=EBI-17442596, EBI-3905457;
CC Q6UX41-6; Q7Z6M3: MILR1; NbExp=3; IntAct=EBI-17442596, EBI-18391669;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I
CC membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1; Synonyms=BTN-like;
CC IsoId=Q6UX41-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UX41-2; Sequence=VSP_012718, VSP_012719;
CC Name=3;
CC IsoId=Q6UX41-3; Sequence=VSP_045472;
CC Name=4;
CC IsoId=Q6UX41-4; Sequence=VSP_045471;
CC Name=5; Synonyms=B7-like;
CC IsoId=Q6UX41-5; Sequence=VSP_045781, VSP_012719;
CC Name=6;
CC IsoId=Q6UX41-6; Sequence=VSP_046069;
CC Name=7;
CC IsoId=Q6UX41-7; Sequence=VSP_046067, VSP_046068;
CC -!- TISSUE SPECIFICITY: Expressed in neutrophils. Isoforms 1 and 5 are
CC expressed at high levels in the colon, lung,testis, lymph nodes and
CC thyroid tissue. Isoform 5, but not isoform 1, is detected in spleen.
CC {ECO:0000269|PubMed:24036152}.
CC -!- INDUCTION: Down-regulated in neutrophils after treatment with LPS and
CC TNF. {ECO:0000269|PubMed:24036152}.
CC -!- SIMILARITY: Belongs to the immunoglobulin superfamily. BTN/MOG family.
CC {ECO:0000305}.
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DR EMBL; AY358523; AAQ88887.1; -; mRNA.
DR EMBL; AK025111; BAB15069.1; -; mRNA.
DR EMBL; AK296597; BAH12395.1; -; mRNA.
DR EMBL; AK298687; BAH12847.1; -; mRNA.
DR EMBL; AK225213; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC022413; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC091874; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471165; EAW53732.1; -; Genomic_DNA.
DR EMBL; BC119696; AAI19697.1; -; mRNA.
DR EMBL; BC119697; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS43413.1; -. [Q6UX41-1]
DR CCDS; CCDS4459.1; -. [Q6UX41-5]
DR CCDS; CCDS54956.1; -. [Q6UX41-3]
DR CCDS; CCDS54957.1; -. [Q6UX41-6]
DR CCDS; CCDS54958.1; -. [Q6UX41-7]
DR CCDS; CCDS54959.1; -. [Q6UX41-4]
DR RefSeq; NP_001035552.1; NM_001040462.2. [Q6UX41-1]
DR RefSeq; NP_001153179.1; NM_001159707.1. [Q6UX41-6]
DR RefSeq; NP_001153180.1; NM_001159708.1. [Q6UX41-3]
DR RefSeq; NP_001153181.1; NM_001159709.1. [Q6UX41-7]
DR RefSeq; NP_001153182.1; NM_001159710.1. [Q6UX41-4]
DR RefSeq; NP_079126.1; NM_024850.2. [Q6UX41-5]
DR AlphaFoldDB; Q6UX41; -.
DR SMR; Q6UX41; -.
DR BioGRID; 122991; 46.
DR IntAct; Q6UX41; 38.
DR STRING; 9606.ENSP00000342197; -.
DR GlyGen; Q6UX41; 1 site.
DR iPTMnet; Q6UX41; -.
DR PhosphoSitePlus; Q6UX41; -.
DR BioMuta; BTNL8; -.
DR DMDM; 59799184; -.
DR jPOST; Q6UX41; -.
DR MassIVE; Q6UX41; -.
DR MaxQB; Q6UX41; -.
DR PaxDb; Q6UX41; -.
DR PeptideAtlas; Q6UX41; -.
DR PRIDE; Q6UX41; -.
DR Antibodypedia; 29680; 147 antibodies from 22 providers.
DR DNASU; 79908; -.
DR Ensembl; ENST00000231229.8; ENSP00000231229.4; ENSG00000113303.12. [Q6UX41-5]
DR Ensembl; ENST00000340184.9; ENSP00000342197.4; ENSG00000113303.12. [Q6UX41-1]
DR Ensembl; ENST00000400707.7; ENSP00000383543.3; ENSG00000113303.12. [Q6UX41-7]
DR Ensembl; ENST00000508408.5; ENSP00000424585.1; ENSG00000113303.12. [Q6UX41-3]
DR Ensembl; ENST00000511704.5; ENSP00000425207.1; ENSG00000113303.12. [Q6UX41-6]
DR Ensembl; ENST00000533815.2; ENSP00000435098.2; ENSG00000113303.12. [Q6UX41-4]
DR Ensembl; ENST00000610640.4; ENSP00000483717.1; ENSG00000113303.12. [Q6UX41-7]
DR GeneID; 79908; -.
DR KEGG; hsa:79908; -.
DR MANE-Select; ENST00000340184.9; ENSP00000342197.4; NM_001040462.3; NP_001035552.1.
DR UCSC; uc003mmp.4; human. [Q6UX41-1]
DR CTD; 79908; -.
DR DisGeNET; 79908; -.
DR GeneCards; BTNL8; -.
DR HGNC; HGNC:26131; BTNL8.
DR HPA; ENSG00000113303; Tissue enriched (intestine).
DR MIM; 615606; gene.
DR neXtProt; NX_Q6UX41; -.
DR OpenTargets; ENSG00000113303; -.
DR PharmGKB; PA134918466; -.
DR VEuPathDB; HostDB:ENSG00000113303; -.
DR eggNOG; KOG2177; Eukaryota.
DR GeneTree; ENSGT00940000163611; -.
DR HOGENOM; CLU_013137_22_0_1; -.
DR InParanoid; Q6UX41; -.
DR OMA; YEQVSFY; -.
DR OrthoDB; 522383at2759; -.
DR PhylomeDB; Q6UX41; -.
DR TreeFam; TF331083; -.
DR PathwayCommons; Q6UX41; -.
DR Reactome; R-HSA-8851680; Butyrophilin (BTN) family interactions.
DR SignaLink; Q6UX41; -.
DR BioGRID-ORCS; 79908; 7 hits in 1060 CRISPR screens.
DR ChiTaRS; BTNL8; human.
DR GenomeRNAi; 79908; -.
DR Pharos; Q6UX41; Tdark.
DR PRO; PR:Q6UX41; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q6UX41; protein.
DR Bgee; ENSG00000113303; Expressed in mucosa of transverse colon and 130 other tissues.
DR ExpressionAtlas; Q6UX41; baseline and differential.
DR Genevisible; Q6UX41; HS.
DR GO; GO:0009897; C:external side of plasma membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0005102; F:signaling receptor binding; IBA:GO_Central.
DR GO; GO:0002250; P:adaptive immune response; IEA:UniProtKB-KW.
DR GO; GO:0001817; P:regulation of cytokine production; IBA:GO_Central.
DR GO; GO:0050852; P:T cell receptor signaling pathway; IBA:GO_Central.
DR Gene3D; 2.60.120.920; -; 1.
DR Gene3D; 2.60.40.10; -; 2.
DR InterPro; IPR001870; B30.2/SPRY.
DR InterPro; IPR043136; B30.2/SPRY_sf.
DR InterPro; IPR003879; Butyrophylin_SPRY.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR013106; Ig_V-set.
DR InterPro; IPR006574; PRY.
DR InterPro; IPR003877; SPRY_dom.
DR Pfam; PF13765; PRY; 1.
DR Pfam; PF00622; SPRY; 1.
DR Pfam; PF07686; V-set; 1.
DR PRINTS; PR01407; BUTYPHLNCDUF.
DR SMART; SM00409; IG; 2.
DR SMART; SM00589; PRY; 1.
DR SMART; SM00449; SPRY; 1.
DR SUPFAM; SSF48726; SSF48726; 2.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS50188; B302_SPRY; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Adaptive immunity; Alternative splicing; Direct protein sequencing;
KW Disulfide bond; Glycoprotein; Immunity; Immunoglobulin domain; Membrane;
KW Reference proteome; Repeat; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..17
FT /evidence="ECO:0000269|PubMed:15340161"
FT CHAIN 18..500
FT /note="Butyrophilin-like protein 8"
FT /id="PRO_0000014541"
FT TOPO_DOM 18..238
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 239..259
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 260..500
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 19..132
FT /note="Ig-like V-type 1"
FT DOMAIN 133..222
FT /note="Ig-like V-type 2"
FT DOMAIN 270..466
FT /note="B30.2/SPRY"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00548"
FT REGION 470..500
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 470..494
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 103
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 40..114
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 154..206
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 1..184
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045471"
FT VAR_SEQ 1..8
FT /note="MALMLSLV -> MWTWFVKS (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046067"
FT VAR_SEQ 9..133
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046068"
FT VAR_SEQ 16..131
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046069"
FT VAR_SEQ 263..500
FT /note="WKIQAELDWRRKHGQAELRDARKHAVEVTLDPETAHPKLCVSDLKTVTHRKA
FT PQEVPHSEKRFTRKSVVASQSFQAGKHYWEVDGGHNKRWRVGVCRDDVDRRKEYVTLSP
FT DHGYWVLRLNGEHLYFTLNPRFISVFPRTPPTKIGVFLDYECGTISFFNINDQSLIYTL
FT TCRFEGLLRPYIEYPSYNEQNGTPIVICPVTQESEKEASWQRASAIPETSNSESSSQAT
FT TPFLPRGEM -> CKREREAWAGALFMVPAGTGSEMLPHPAASLLLVLASRGPGPKKLE
FT KKARTGRIERRPETRSGGDSGSRDGSPEALRF (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045472"
FT VAR_SEQ 263..347
FT /note="WKIQAELDWRRKHGQAELRDARKHAVEVTLDPETAHPKLCVSDLKTVTHRKA
FT PQEVPHSEKRFTRKSVVASQSFQAGKHYWEVDG -> CKREREAWAGALFMVPAGTGSE
FT MLPHPAASLLLVLASRGPGPKKENPGGTGLEKKARTGRIERRPETRSGG (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_012718"
FT VAR_SEQ 263..347
FT /note="WKIQAELDWRRKHGQAELRDARKHAVEVTLDPETAHPKLCVSDLKTVTHRKA
FT PQEVPHSEKRFTRKSVVASQSFQAGKHYWEVDG -> CKREREAWAGALFMVPAGTGSE
FT MLPHPAASLLLVLASRGPGPKKENPGGTGLEKKARTGRIERRPETRSGGDSGSRDGSPE
FT ALRF (in isoform 5)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_045781"
FT VAR_SEQ 348..500
FT /note="Missing (in isoform 2 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.3"
FT /id="VSP_012719"
FT VARIANT 143
FT /note="T -> A (in dbSNP:rs2276995)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_049839"
FT VARIANT 229
FT /note="E -> K (in dbSNP:rs7724813)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_049840"
FT VARIANT 311
FT /note="H -> Q (in dbSNP:rs146303629)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_069135"
FT VARIANT 326
FT /note="T -> K (in dbSNP:rs7703365)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_069136"
FT VARIANT 477
FT /note="A -> T (in dbSNP:rs113820381)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_069137"
FT CONFLICT 311
FT /note="H -> E (in Ref. 2; BAH12847)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 500 AA; 56748 MW; 3314E96421533C74 CRC64;
MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQWKIQAELD WRRKHGQAEL RDARKHAVEV TLDPETAHPK
LCVSDLKTVT HRKAPQEVPH SEKRFTRKSV VASQSFQAGK HYWEVDGGHN KRWRVGVCRD
DVDRRKEYVT LSPDHGYWVL RLNGEHLYFT LNPRFISVFP RTPPTKIGVF LDYECGTISF
FNINDQSLIY TLTCRFEGLL RPYIEYPSYN EQNGTPIVIC PVTQESEKEA SWQRASAIPE
TSNSESSSQA TTPFLPRGEM
