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MEGF6_HUMAN
ID   MEGF6_HUMAN             Reviewed;        1541 AA.
AC   O75095; Q4AC86; Q5VV39;
DT   13-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT   28-JUL-2009, sequence version 4.
DT   03-AUG-2022, entry version 163.
DE   RecName: Full=Multiple epidermal growth factor-like domains protein 6;
DE            Short=Multiple EGF-like domains protein 6;
DE   AltName: Full=Epidermal growth factor-like protein 3;
DE            Short=EGF-like protein 3;
DE   Flags: Precursor;
GN   Name=MEGF6; Synonyms=EGFL3, KIAA0815;
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 VARIANTS GLY-131;
RP   LEU-916 AND ALA-1137.
RC   TISSUE=Brain, and Spleen;
RX   PubMed=9693030; DOI=10.1006/geno.1998.5341;
RA   Nakayama M., Nakajima D., Nagase T., Nomura N., Seki N., Ohara O.;
RT   "Identification of high-molecular-weight proteins with multiple EGF-like
RT   motifs by motif-trap screening.";
RL   Genomics 51:27-34(1998).
RN   [2]
RP   SEQUENCE REVISION.
RX   PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA   Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT   "Construction of expression-ready cDNA clones for KIAA genes: manual
RT   curation of 330 KIAA cDNA clones.";
RL   DNA Res. 9:99-106(2002).
RN   [3]
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).
CC   -!- INTERACTION:
CC       O75095; O15265: ATXN7; NbExp=2; IntAct=EBI-947597, EBI-708350;
CC       O75095; O00555: CACNA1A; NbExp=2; IntAct=EBI-947597, EBI-766279;
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=O75095-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=O75095-2; Sequence=VSP_037740, VSP_037741, VSP_037742,
CC                                  VSP_037743, VSP_037744;
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAA32467.2; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=BAE19678.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAE19678.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AB011539; BAA32467.2; ALT_INIT; mRNA.
DR   EMBL; AB231860; BAE19678.1; ALT_SEQ; mRNA.
DR   EMBL; AL512413; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL513320; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS41237.1; -. [O75095-1]
DR   RefSeq; NP_001400.3; NM_001409.3. [O75095-1]
DR   AlphaFoldDB; O75095; -.
DR   BioGRID; 108273; 14.
DR   IntAct; O75095; 11.
DR   MINT; O75095; -.
DR   STRING; 9606.ENSP00000348982; -.
DR   GlyGen; O75095; 3 sites, 1 O-linked glycan (1 site).
DR   iPTMnet; O75095; -.
DR   PhosphoSitePlus; O75095; -.
DR   BioMuta; MEGF6; -.
DR   jPOST; O75095; -.
DR   MassIVE; O75095; -.
DR   PaxDb; O75095; -.
DR   PeptideAtlas; O75095; -.
DR   PRIDE; O75095; -.
DR   ProteomicsDB; 49758; -. [O75095-1]
DR   ProteomicsDB; 49759; -. [O75095-2]
DR   Antibodypedia; 59969; 30 antibodies from 13 providers.
DR   DNASU; 1953; -.
DR   Ensembl; ENST00000294599.8; ENSP00000294599.4; ENSG00000162591.16. [O75095-2]
DR   Ensembl; ENST00000356575.9; ENSP00000348982.4; ENSG00000162591.16. [O75095-1]
DR   GeneID; 1953; -.
DR   KEGG; hsa:1953; -.
DR   MANE-Select; ENST00000356575.9; ENSP00000348982.4; NM_001409.4; NP_001400.3.
DR   UCSC; uc001akk.4; human. [O75095-1]
DR   CTD; 1953; -.
DR   DisGeNET; 1953; -.
DR   GeneCards; MEGF6; -.
DR   HGNC; HGNC:3232; MEGF6.
DR   HPA; ENSG00000162591; Low tissue specificity.
DR   MIM; 604266; gene.
DR   neXtProt; NX_O75095; -.
DR   OpenTargets; ENSG00000162591; -.
DR   PharmGKB; PA27665; -.
DR   VEuPathDB; HostDB:ENSG00000162591; -.
DR   eggNOG; KOG1218; Eukaryota.
DR   GeneTree; ENSGT00940000156971; -.
DR   HOGENOM; CLU_004998_0_0_1; -.
DR   InParanoid; O75095; -.
DR   OMA; ADAPCCQ; -.
DR   OrthoDB; 25795at2759; -.
DR   PhylomeDB; O75095; -.
DR   TreeFam; TF332598; -.
DR   PathwayCommons; O75095; -.
DR   SignaLink; O75095; -.
DR   BioGRID-ORCS; 1953; 10 hits in 1066 CRISPR screens.
DR   ChiTaRS; MEGF6; human.
DR   GenomeRNAi; 1953; -.
DR   Pharos; O75095; Tdark.
DR   PRO; PR:O75095; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; O75095; protein.
DR   Bgee; ENSG00000162591; Expressed in right coronary artery and 130 other tissues.
DR   ExpressionAtlas; O75095; baseline and differential.
DR   Genevisible; O75095; HS.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR   InterPro; IPR013032; EGF-like_CS.
DR   InterPro; IPR000742; EGF-like_dom.
DR   InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR   InterPro; IPR018097; EGF_Ca-bd_CS.
DR   InterPro; IPR011489; EMI_domain.
DR   InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR   InterPro; IPR002049; LE_dom.
DR   Pfam; PF07645; EGF_CA; 1.
DR   Pfam; PF12661; hEGF; 5.
DR   Pfam; PF00053; Laminin_EGF; 5.
DR   SMART; SM00181; EGF; 31.
DR   SMART; SM00179; EGF_CA; 8.
DR   SMART; SM00180; EGF_Lam; 22.
DR   SUPFAM; SSF57184; SSF57184; 3.
DR   PROSITE; PS00010; ASX_HYDROXYL; 4.
DR   PROSITE; PS00022; EGF_1; 23.
DR   PROSITE; PS01186; EGF_2; 24.
DR   PROSITE; PS50026; EGF_3; 23.
DR   PROSITE; PS01187; EGF_CA; 4.
DR   PROSITE; PS51041; EMI; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Calcium; Disulfide bond; EGF-like domain;
KW   Glycoprotein; Reference proteome; Repeat; Secreted; Signal.
FT   SIGNAL          1..30
FT                   /evidence="ECO:0000255"
FT   CHAIN           31..1541
FT                   /note="Multiple epidermal growth factor-like domains
FT                   protein 6"
FT                   /id="PRO_0000007524"
FT   DOMAIN          44..125
FT                   /note="EMI"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00384"
FT   DOMAIN          124..159
FT                   /note="EGF-like 1"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          161..201
FT                   /note="EGF-like 2; calcium-binding"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          206..242
FT                   /note="EGF-like 3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          238..284
FT                   /note="EGF-like 4"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          285..325
FT                   /note="EGF-like 5; calcium-binding"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          335..370
FT                   /note="EGF-like 6"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          375..411
FT                   /note="EGF-like 7"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          412..452
FT                   /note="EGF-like 8; calcium-binding"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          516..552
FT                   /note="EGF-like 9"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          560..595
FT                   /note="EGF-like 10"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          603..638
FT                   /note="EGF-like 11"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          736..770
FT                   /note="EGF-like 12"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          783..814
FT                   /note="EGF-like 13"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          822..857
FT                   /note="EGF-like 14"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          865..901
FT                   /note="EGF-like 15"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          909..944
FT                   /note="EGF-like 16"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          955..987
FT                   /note="EGF-like 17"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          995..1030
FT                   /note="EGF-like 18"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1038..1073
FT                   /note="EGF-like 19"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1081..1116
FT                   /note="EGF-like 20"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1124..1159
FT                   /note="EGF-like 21"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1211..1246
FT                   /note="EGF-like 22"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1254..1289
FT                   /note="EGF-like 23"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1297..1332
FT                   /note="EGF-like 24"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1345..1375
FT                   /note="EGF-like 25"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1383..1418
FT                   /note="EGF-like 26"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   DOMAIN          1469..1504
FT                   /note="EGF-like 27"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT   REGION          1509..1541
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1517..1535
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CARBOHYD        252
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        739
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   DISULFID        48..111
FT                   /evidence="ECO:0000255"
FT   DISULFID        77..83
FT                   /evidence="ECO:0000255"
FT   DISULFID        110..123
FT                   /evidence="ECO:0000255"
FT   DISULFID        128..139
FT                   /evidence="ECO:0000250"
FT   DISULFID        133..147
FT                   /evidence="ECO:0000250"
FT   DISULFID        149..158
FT                   /evidence="ECO:0000250"
FT   DISULFID        165..176
FT                   /evidence="ECO:0000250"
FT   DISULFID        172..185
FT                   /evidence="ECO:0000250"
FT   DISULFID        187..200
FT                   /evidence="ECO:0000250"
FT   DISULFID        242..255
FT                   /evidence="ECO:0000250"
FT   DISULFID        248..268
FT                   /evidence="ECO:0000250"
FT   DISULFID        270..283
FT                   /evidence="ECO:0000250"
FT   DISULFID        289..300
FT                   /evidence="ECO:0000250"
FT   DISULFID        296..309
FT                   /evidence="ECO:0000250"
FT   DISULFID        311..324
FT                   /evidence="ECO:0000250"
FT   DISULFID        416..427
FT                   /evidence="ECO:0000250"
FT   DISULFID        423..436
FT                   /evidence="ECO:0000250"
FT   DISULFID        438..451
FT                   /evidence="ECO:0000250"
FT   DISULFID        520..533
FT                   /evidence="ECO:0000250"
FT   DISULFID        527..540
FT                   /evidence="ECO:0000250"
FT   DISULFID        542..551
FT                   /evidence="ECO:0000250"
FT   DISULFID        564..576
FT                   /evidence="ECO:0000250"
FT   DISULFID        570..583
FT                   /evidence="ECO:0000250"
FT   DISULFID        585..594
FT                   /evidence="ECO:0000250"
FT   DISULFID        607..619
FT                   /evidence="ECO:0000250"
FT   DISULFID        613..626
FT                   /evidence="ECO:0000250"
FT   DISULFID        628..637
FT                   /evidence="ECO:0000250"
FT   DISULFID        740..751
FT                   /evidence="ECO:0000250"
FT   DISULFID        744..758
FT                   /evidence="ECO:0000250"
FT   DISULFID        760..769
FT                   /evidence="ECO:0000250"
FT   DISULFID        786..795
FT                   /evidence="ECO:0000250"
FT   DISULFID        789..802
FT                   /evidence="ECO:0000250"
FT   DISULFID        804..813
FT                   /evidence="ECO:0000250"
FT   DISULFID        826..838
FT                   /evidence="ECO:0000250"
FT   DISULFID        832..845
FT                   /evidence="ECO:0000250"
FT   DISULFID        847..856
FT                   /evidence="ECO:0000250"
FT   DISULFID        869..882
FT                   /evidence="ECO:0000250"
FT   DISULFID        873..889
FT                   /evidence="ECO:0000250"
FT   DISULFID        891..900
FT                   /evidence="ECO:0000250"
FT   DISULFID        913..925
FT                   /evidence="ECO:0000250"
FT   DISULFID        919..932
FT                   /evidence="ECO:0000250"
FT   DISULFID        934..943
FT                   /evidence="ECO:0000250"
FT   DISULFID        999..1011
FT                   /evidence="ECO:0000250"
FT   DISULFID        1005..1018
FT                   /evidence="ECO:0000250"
FT   DISULFID        1020..1029
FT                   /evidence="ECO:0000250"
FT   DISULFID        1042..1054
FT                   /evidence="ECO:0000250"
FT   DISULFID        1048..1061
FT                   /evidence="ECO:0000250"
FT   DISULFID        1063..1072
FT                   /evidence="ECO:0000250"
FT   DISULFID        1085..1097
FT                   /evidence="ECO:0000250"
FT   DISULFID        1091..1104
FT                   /evidence="ECO:0000250"
FT   DISULFID        1106..1115
FT                   /evidence="ECO:0000250"
FT   DISULFID        1128..1140
FT                   /evidence="ECO:0000250"
FT   DISULFID        1134..1147
FT                   /evidence="ECO:0000250"
FT   DISULFID        1149..1158
FT                   /evidence="ECO:0000250"
FT   DISULFID        1215..1227
FT                   /evidence="ECO:0000250"
FT   DISULFID        1221..1234
FT                   /evidence="ECO:0000250"
FT   DISULFID        1236..1245
FT                   /evidence="ECO:0000250"
FT   DISULFID        1258..1270
FT                   /evidence="ECO:0000250"
FT   DISULFID        1264..1277
FT                   /evidence="ECO:0000250"
FT   DISULFID        1279..1288
FT                   /evidence="ECO:0000250"
FT   DISULFID        1301..1313
FT                   /evidence="ECO:0000250"
FT   DISULFID        1307..1320
FT                   /evidence="ECO:0000250"
FT   DISULFID        1322..1331
FT                   /evidence="ECO:0000250"
FT   DISULFID        1348..1356
FT                   /evidence="ECO:0000250"
FT   DISULFID        1350..1363
FT                   /evidence="ECO:0000250"
FT   DISULFID        1365..1374
FT                   /evidence="ECO:0000250"
FT   DISULFID        1387..1399
FT                   /evidence="ECO:0000250"
FT   DISULFID        1393..1406
FT                   /evidence="ECO:0000250"
FT   DISULFID        1408..1417
FT                   /evidence="ECO:0000250"
FT   DISULFID        1473..1485
FT                   /evidence="ECO:0000250"
FT   DISULFID        1479..1492
FT                   /evidence="ECO:0000250"
FT   DISULFID        1494..1503
FT                   /evidence="ECO:0000250"
FT   VAR_SEQ         1..159
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:9693030"
FT                   /id="VSP_037740"
FT   VAR_SEQ         160
FT                   /note="Y -> MGASRDRGLAALWCLGLLGGLARVAGTHYRYLWRGCYPCHLGQAGYP
FT                   VSAGDQRP (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:9693030"
FT                   /id="VSP_037741"
FT   VAR_SEQ         989..1075
FT                   /note="TCPAHTYGHNCSQACACFNGASCDPVHGQCHCAPGWMGPSCLQACPAGLYGD
FT                   NCRHSCLCQNGGTCDPVSGHCACPEGWAGLACEKE -> K (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:9693030"
FT                   /id="VSP_037742"
FT   VAR_SEQ         1161..1205
FT                   /note="ACPPGSFGEDCAQMCQCPGENPACHPATGTCSCAAGYHGPSCQQR -> G
FT                   (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:9693030"
FT                   /id="VSP_037743"
FT   VAR_SEQ         1377..1454
FT                   /note="PCPPGFHGAGCQGLCWCQHGAPCDPISGRCLCPAGFHGHFCERGCEPGSFGE
FT                   GCHQRCDCDGGAPCDPVTGLCLCPPG -> R (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:9693030"
FT                   /id="VSP_037744"
FT   VARIANT         115
FT                   /note="M -> T (in dbSNP:rs7513275)"
FT                   /id="VAR_059258"
FT   VARIANT         131
FT                   /note="S -> G (in dbSNP:rs2794340)"
FT                   /evidence="ECO:0000269|PubMed:9693030"
FT                   /id="VAR_058361"
FT   VARIANT         313
FT                   /note="A -> V (in dbSNP:rs11585362)"
FT                   /id="VAR_059259"
FT   VARIANT         587
FT                   /note="P -> L (in dbSNP:rs947345)"
FT                   /id="VAR_061155"
FT   VARIANT         688
FT                   /note="L -> P (in dbSNP:rs2821008)"
FT                   /id="VAR_059260"
FT   VARIANT         916
FT                   /note="R -> L (in dbSNP:rs7553399)"
FT                   /evidence="ECO:0000269|PubMed:9693030"
FT                   /id="VAR_058362"
FT   VARIANT         1137
FT                   /note="G -> A (in dbSNP:rs4648506)"
FT                   /evidence="ECO:0000269|PubMed:9693030"
FT                   /id="VAR_058363"
FT   VARIANT         1287
FT                   /note="R -> H (in dbSNP:rs57804877)"
FT                   /id="VAR_061156"
FT   VARIANT         1536
FT                   /note="G -> S (in dbSNP:rs57484147)"
FT                   /id="VAR_061157"
SQ   SEQUENCE   1541 AA;  161185 MW;  EF2A7CB65140A7BB CRC64;
     MSFLEEARAA GRAVVLALVL LLLPAVPVGA SVPPRPLLPL QPGMPHVCAE QELTLVGRRQ
     PCVQALSHTV PVWKAGCGWQ AWCVGHERRT VYYMGYRQVY TTEARTVLRC CRGWMQQPDE
     EGCLSAECSA SLCFHGGRCV PGSAQPCHCP PGFQGPRCQY DVDECRTHNG GCQHRCVNTP
     GSYLCECKPG FRLHTDSRTC LAINSCALGN GGCQHHCVQL TITRHRCQCR PGFQLQEDGR
     HCVRRSPCAN RNGSCMHRCQ VVRGLARCEC HVGYQLAADG KACEDVDECA AGLAQCAHGC
     LNTQGSFKCV CHAGYELGAD GRQCYRIEME IVNSCEANNG GCSHGCSHTS AGPLCTCPRG
     YELDTDQRTC IDVDDCADSP CCQQVCTNNP GGYECGCYAG YRLSADGCGC EDVDECASSR
     GGCEHHCTNL AGSFQCSCEA GYRLHEDRRG CSPLEEPMVD LDGELPFVRP LPHIAVLQDE
     LPQLFQDDDV GADEEEAELR GEHTLTEKFV CLDDSFGHDC SLTCDDCRNG GTCLLGLDGC
     DCPEGWTGLI CNETCPPDTF GKNCSFSCSC QNGGTCDSVT GACRCPPGVS GTNCEDGCPK
     GYYGKHCRKK CNCANRGRCH RLYGACLCDP GLYGRFCHLT CPPWAFGPGC SEECQCVQPH
     TQSCDKRDGS CSCKAGFRGE RCQAECELGY FGPGCWQACT CPVGVACDSV SGECGKRCPA
     GFQGEDCGQE CPVGTFGVNC SSSCSCGGAP CHGVTGQCRC PPGRTGEDCE ADCPEGRWGL
     GCQEICPACQ HAARCDPETG ACLCLPGFVG SRCQDVCPAG WYGPSCQTRC SCANDGHCHP
     ATGHCSCAPG WTGFSCQRAC DTGHWGPDCS HPCNCSAGHG SCDAISGLCL CEAGYVGPRC
     EQQCPQGHFG PGCEQRCQCQ HGAACDHVSG ACTCPAGWRG TFCEHACPAG FFGLDCRSAC
     NCTAGAACDA VNGSCLCPAG RRGPRCAETC PAHTYGHNCS QACACFNGAS CDPVHGQCHC
     APGWMGPSCL QACPAGLYGD NCRHSCLCQN GGTCDPVSGH CACPEGWAGL ACEKECLPRD
     VRAGCRHSGG CLNGGLCDPH TGRCLCPAGW TGDKCQSPCL RGWFGEACAQ RCSCPPGAAC
     HHVTGACRCP PGFTGSGCEQ ACPPGSFGED CAQMCQCPGE NPACHPATGT CSCAAGYHGP
     SCQQRCPPGR YGPGCEQLCG CLNGGSCDAA TGACRCPTGF LGTDCNLTCP QGRFGPNCTH
     VCGCGQGAAC DPVTGTCLCP PGRAGVRCER GCPQNRFGVG CEHTCSCRNG GLCHASNGSC
     SCGLGWTGRH CELACPPGRY GAACHLECSC HNNSTCEPAT GTCRCGPGFY GQACEHPCPP
     GFHGAGCQGL CWCQHGAPCD PISGRCLCPA GFHGHFCERG CEPGSFGEGC HQRCDCDGGA
     PCDPVTGLCL CPPGRSGATC NLDCRRGQFG PSCTLHCDCG GGADCDPVSG QCHCVDGYMG
     PTCREGGPLR LPENPSLAQG SAGTLPASSR PTSRSGGPAR H
 
 
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