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NiceProt View of SWISS-PROT: P11532
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General
information about the entry
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Entry name
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DMD_HUMAN
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Primary accession number
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P11532
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Secondary accession number(s)
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Q14169 Q14170
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Entered in SWISS-PROT in
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Release 12, October 1989
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Sequence was last modified in
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Release 12, October 1989
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Annotations were last modified in
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Release 38, April 1999
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Name
and origin of the protein
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Protein name
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DYSTROPHIN
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Synonym(s)
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None
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Gene name(s)
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DMD
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From
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HOMO
SAPIENS
(HUMAN)
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Taxonomy
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EUKARYOTA; METAZOA; CHORDATA; VERTEBRATA;
MAMMALIA; EUTHERIA; PRIMATES; CATARRHINI;
HOMINIDAE; HOMO.
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References
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[1]
SEQUENCE FROM N.A.
MEDLINE; 88194521. [NCBI,
ExPASy,
Israel,
Japan]
KOENIG M.,
MONACO A.P.,
KUNKEL L.M.;
"The complete sequence of dystrophin predicts a
rod-shaped cytoskeletal protein.";
CELL
53:219-228(1988).
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[2]
SEQUENCE FROM N.A.
MEDLINE; 89345106. [NCBI,
ExPASy,
Israel,
Japan]
ROSENTHAL A.,
SPEER A.,
BILLOWITZ H.,
CROSS G.S.,
FORREST S.N.,
DAVIES K.E.;
"Two human cDNA molecules coding for the Duchenne
muscular dystrophy (DMD) locus are highly
homologous.";
NUCLEIC ACIDS RES. 17:5391-5391(1989).
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[3]
SEQUENCE OF 1-497 FROM N.A.
MEDLINE; 87273512. [NCBI,
ExPASy,
Israel,
Japan]
KOENIG M.,
HOFFMAN E.P.,
BERTELSON C.J.,
MONACO A.P.,
FEENER C.,
KUNKEL L.M.;
"Complete cloning of the Duchenne muscular
dystrophy (DMD) cDNA and preliminary genomic
organization of the DMD gene in normal and affected
individuals.";
CELL
50:509-517(1987).
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[4]
SEQUENCE OF 404-1137 FROM N.A.
MEDLINE; 88111512. [NCBI,
ExPASy,
Israel,
Japan]
CROSS G.S.,
SPEER A.,
ROSENTHAL A.,
FORREST S.M.,
SMITH T.J.,
EDWARDS Y.,
FLINT T.,
HILL D.,
DAVIES K.E.;
"Deletions of fetal and adult muscle cDNA in
Duchenne and Becker muscular dystrophy
patients.";
EMBO J. 6:3277-3283(1987).
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[5]
SEQUENCE OF 665-722; 2098-2204 AND 2305-2366 FROM
N.A.
MEDLINE; 89083552. [NCBI,
ExPASy,
Israel,
Japan]
CHAMBERLAIN J.S.,
GIBBS R.A.,
RANIER J.A.,
NGUYEN P.N.,
CASKEY C.T.;
"Deletion screening of the Duchenne muscular
dystrophy locus via multiplex DNA
amplification.";
NUCLEIC ACIDS RES. 16:11141-11156(1988).
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[6]
SEQUENCE OF 2147-2204 FROM N.A.
MEDLINE; 89345155. [NCBI,
ExPASy,
Israel,
Japan]
BLONDEN L.A.J.,
DEN DUNNEN J.T.,
VAN PAASSEN H.M.B.,
WAPENAAR M.C.,
GROOTSCHOLTEN P.M.,
GINJAAR H.B.,
BAKKER E.,
PEARSON P.L.,
VAN OMMEN G.J.B.;
"High resolution deletion breakpoint mapping in the
DMD gene by whole cosmid hybridization.";
NUCLEIC ACIDS RES. 17:5611-5621(1989).
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[7]
SEQUENCE OF 2305-2364 FROM N.A.
HUTH A.,
WILL K.,
SPEER A.,
BAUER D.;
SUBMITTED (MAR-1991) TO EMBL/GENBANK/DDBJ DATA
BANKS.
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[8]
REVIEW ON DMD POINT MUTATION VARIANTS.
MEDLINE; 95038763. [NCBI,
ExPASy,
Israel,
Japan]
ROBERTS R.G.,
GARDNER R.J.,
BOBROW M.;
"Searching for the 1 in 2,400,000: a review of
dystrophin gene point mutations.";
HUM. MUTAT. 4:1-11(1994).
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[9]
REVIEW ON VARIANTS.
MEDLINE; 94320940. [NCBI,
ExPASy,
Israel,
Japan]
RININSLAND F.,
REISS J.;
"Microlesions and polymorphisms in the
Duchenne/Becker muscular dystrophy gene.";
HUM. GENET. 94:111-116(1994).
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[10]
VARIANT DMD ARG-54.
MEDLINE; 94004962. [NCBI,
ExPASy,
Israel,
Japan]
PRIOR T.W.,
PAPP A.C.,
SNYDER P.J.,
BURGHES A.H.M.,
BARTOLO C.,
SEDRA M.S.,
WESTERN L.M.,
MENDELL J.R.;
"A missense mutation in the dystrophin gene in a
Duchenne muscular dystrophy patient.";
NAT. GENET. 4:357-360(1993).
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[11]
VARIANTS DMD HIS-365; TRP-2191 AND ARG-2937.
MEDLINE; 95152525. [NCBI,
ExPASy,
Israel,
Japan]
NIGRO V.,
NIGRO G.,
ESPOSITO M.G.,
COMI L.I.,
MOLINARI A.M.,
PUCA G.A.,
POLITANO L.;
"Novel small mutations along the DMD/BMD gene
associated with different phenotypes.";
HUM. MOL. GENET. 3:1907-1908(1994).
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[12]
ALTERNATIVE SPLICING (DYSTROPHIN-1 AND -2).
TISSUE=RETINA;
WHITE R.A.;
SUBMITTED (JAN-1996) TO EMBL/GENBANK/DDBJ DATA
BANKS.
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[13]
ALTERNATIVE SPLICING (DYSTROPHIN-3).
TISSUE=BRAIN;
MEDLINE; 89181947. [NCBI,
ExPASy,
Israel,
Japan]
FEENER C.A.,
KOENIG M.,
KUNKEL L.M.;
"Alternative splicing of human dystrophin mRNA
generates isoforms at the carboxy terminus.";
NATURE 338:509-511(1989).
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Comments
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- FUNCTION: MAY PLAY A ROLE IN
ANCHORING THE CYTOSKELETON TO THE PLASMA
MEMBRANE.
- DISEASE: DYSTROPHIN IS
DEFECTIVE IN DUCHENNE MUSCULAR DYSTROPHY (DMD)
AND BECKER MUSCULAR DISTROPHY (BMD). DMD IS THE
MOST COMMON FORM OF MUSCULAR DYSTROPHY. A
SEX-LINKED RECESSIVE DISORDER. IT TYPICALLY
PRESENTS IN BOYS AGED 3 TO 7 YR AS PROXIMAL
MUSCLE WEAKNESS CAUSING WADDLING GAIT,
TOE-WALKING, LORDOSIS, FREQUENT FALLS, AND
DIFFICULTY IN STANDING UP AND CLIMBING UP
STAIRS. THE PELVIC GIRDLE IS AFFECTED FIRST,
THEN THE SHOULDER GIRDLE. PROGRESSION IS STEADY
AND MOST PATIENTS ARE CONFINED TO A WHEELCHAIR
BY AGE OF 10 OR 12. FLEXION CONTRACTURES AND
SCOLIOSIS ULTIMATELY OCCUR. ABOUT 50% OF
PATIENTS HAVE A LOWER IQ THAN THEIR GENETIC
EXPECTATIONS WOULD SUGGEST. THERE IS NO
TREATMENT. BMD RESSEMBLES DMD IN HEREDITARY AND
CLINICAL FEATURES BUT IS LATER IN ONSET AND MORE
BENIGN.
- THE DMD GENE IS THE LARGEST KNOWN GENE IN
HUMANS. IT IS 2.4 MILLION BASE-PAIRS IN SIZE AND
COMPRISES 79 EXONS.
- ALTERNATIVE PRODUCTS: AT LEAST
4 ISOFORMS ARE PRODUCED BY ALTERNATIVE SPLICING;
THE 3 SHORTER VARIANTS ARE CALLED DYSTROPHIN-1,
-2 AND -3.
- SIMILARITY: THE ACTIN-BINDING
DOMAIN IS OF A TYPE FOUND IN MANY ACTIN-BINDING
PROTEINS (SUCH AS ACTININ, DYSTROPHIN, FIMBRIN,
ABP-120, ABP-180, OR BETA-FODRIN).
- SIMILARITY: CONTAINS 1 WW
DOMAIN.
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Copyright
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This SWISS-PROT entry is
copyright. It is produced through a collaboration
between the Swiss Institute of Bioinformatics and
the EMBL outstation - the European Bioinformatics
Institute. There are no restrictions on its use by
non-profit institutions as long as its content is
in no way modified and this statement is not
removed. Usage by and for commercial entities
requires a license agreement (See http://www.isb-sib.ch/announce/
or send an email to license@isb-sib.ch).
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Cross-references
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Keywords
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STRUCTURAL PROTEIN; ACTIN-BINDING;
CALCIUM-BINDING; CYTOSKELETON; REPEAT; DISEASE
MUTATION; ALTERNATIVE SPLICING.
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Features
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Sequence
information
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Length: 3685 AA
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Molecular weight: 426669 Da
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CRC32: F3703386 [This is a
checksum on the sequence]
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10 20 30 40 50 60
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MLWWEEVEDC YEREDVQKKT FTKWVNAQFS KFGKQHIENL FSDLQDGRRL LDLLEGLTGQ
70 80 90 100 110 120
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KLPKEKGSTR VHALNNVNKA LRVLQNNNVD LVNIGSTDIV DGNHKLTLGL IWNIILHWQV
130 140 150 160 170 180
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KNVMKNIMAG LQQTNSEKIL LSWVRQSTRN YPQVNVINFT TSWSDGLALN ALIHSHRPDL
190 200 210 220 230 240
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FDWNSVVCQQ SATQRLEHAF NIARYQLGIE KLLDPEDVDT TYPDKKSILM YITSLFQVLP
250 260 270 280 290 300
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QQVSIEAIQE VEMLPRPPKV TKEEHFQLHH QMHYSQQITV SLAQGYERTS SPKPRFKSYA
310 320 330 340 350 360
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YTQAAYVTTS DPTRSPFPSQ HLEAPEDKSF GSSLMESEVN LDRYQTALEE VLSWLLSAED
370 380 390 400 410 420
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TLQAQGEISN DVEVVKDQFH THEGYMMDLT AHQGRVGNIL QLGSKLIGTG KLSEDEETEV
430 440 450 460 470 480
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QEQMNLLNSR WECLRVASME KQSNLHRVLM DLQNQKLKEL NDWLTKTEER TRKMEEEPLG
490 500 510 520 530 540
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PDLEDLKRQV QQHKVLQEDL EQEQVRVNSL THMVVVVDES SGDHATAALE EQLKVLGDRW
550 560 570 580 590 600
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ANICRWTEDR WVLLQDILLK WQRLTEEQCL FSAWLSEKED AVNKIHTTGF KDQNEMLSSL
610 620 630 640 650 660
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QKLAVLKADL EKKKQSMGKL YSLKQDLLST LKNKSVTQKT EAWLDNFARC WDNLVQKLEK
670 680 690 700 710 720
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STAQISQAVT TTQPSLTQTT VMETVTTVTT REQILVKHAQ EELPPPPPQK KRQITVDSEI
730 740 750 760 770 780
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RKRLDVDITE LHSWITRSEA VLQSPEFAIF RKEGNFSDLK EKVNAIEREK AEKFRKLQDA
790 800 810 820 830 840
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SRSAQALVEQ MVNEGVNADS IKQASEQLNS RWIEFCQLLS ERLNWLEYQN NIIAFYNQLQ
850 860 870 880 890 900
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QLEQMTTTAE NWLKIQPTTP SEPTAIKSQL KICKDEVNRL SGLQPQIERL KIQSIALKEK
910 920 930 940 950 960
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GQGPMFLDAD FVAFTNHFKQ VFSDVQAREK ELQTIFDTLP PMRYQETMSA IRTWVQQSET
970 980 990 1000 1010 1020
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KLSIPQLSVT DYEIMEQRLG ELQALQSSLQ EQQSGLYYLS TTVKEMSKKA PSEISRKYQS
1030 1040 1050 1060 1070 1080
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EFEEIEGRWK KLSSQLVEHC QKLEEQMNKL RKIQNHIQTL KKWMAEVDVF LKEEWPALGD
1090 1100 1110 1120 1130 1140
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SEILKKQLKQ CRLLVSDIQT IQPSLNSVNE GGQKIKNEAE PEFASRLETE LKELNTQWDH
1150 1160 1170 1180 1190 1200
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MCQQVYARKE ALKGGLEKTV SLQKDLSEMH EWMTQAEEEY LERDFEYKTP DELQKAVEEM
1210 1220 1230 1240 1250 1260
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KRAKEEAQQK EAKVKLLTES VNSVIAQAPP VAQEALKKEL ETLTTNYQWL CTRLNGKCKT
1270 1280 1290 1300 1310 1320
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LEEVWACWHE LLSYLEKANK WLNEVEFKLK TTENIPGGAE EISEVLDSLE NLMRHSEDNP
1330 1340 1350 1360 1370 1380
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NQIRILAQTL TDGGVMDELI NEELETFNSR WRELHEEAVR RQKLLEQSIQ SAQETEKSLH
1390 1400 1410 1420 1430 1440
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LIQESLTFID KQLAAYIADK VDAAQMPQEA QKIQSDLTSH EISLEEMKKH NQGKEAAQRV
1450 1460 1470 1480 1490 1500
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LSQIDVAQKK LQDVSMKFRL FQKPANFELR LQESKMILDE VKMHLPALET KSVEQEVVQS
1510 1520 1530 1540 1550 1560
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QLNHCVNLYK SLSEVKSEVE MVIKTGRQIV QKKQTENPKE LDERVTALKL HYNELGAKVT
1570 1580 1590 1600 1610 1620
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ERKQQLEKCL KLSRKMRKEM NVLTEWLAAT DMELTKRSAV EGMPSNLDSE VAWGKATQKE
1630 1640 1650 1660 1670 1680
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IEKQKVHLKS ITEVGEALKT VLGKKETLVE DKLSLLNSNW IAVTSRAEEW LNLLLEYQKH
1690 1700 1710 1720 1730 1740
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METFDQNVDH ITKWIIQADT LLDESEKKKP QQKEDVLKRL KAELNDIRPK VDSTRDQAAN
1750 1760 1770 1780 1790 1800
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LMANRGDHCR KLVEPQISEL NHRFAAISHR IKTGKASIPL KELEQFNSDI QKLLEPLEAE
1810 1820 1830 1840 1850 1860
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IQQGVNLKEE DFNKDMNEDN EGTVKELLQR GDNLQQRITD ERKREEIKIK QQLLQTKHNA
1870 1880 1890 1900 1910 1920
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LKDLRSQRRK KALEISHQWY QYKRQADDLL KCLDDIEKKL ASLPEPRDER KIKEIDRELQ
1930 1940 1950 1960 1970 1980
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KKKEELNAVR RQAEGLSEDG AAMAVEPTQI QLSKRWREIE SKFAQFRRLN FAQIHTVREE
1990 2000 2010 2020 2030 2040
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TMMVMTEDMP LEISYVPSTY LTEITHVSQA LLEVEQLLNA PDLCAKDFED LFKQEESLKN
2050 2060 2070 2080 2090 2100
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IKDSLQQSSG RIDIIHSKKT AALQSATPVE RVKLQEALSQ LDFQWEKVNK MYKDRQGRFD
2110 2120 2130 2140 2150 2160
| | | | | |
RSVEKWRRFH YDIKIFNQWL TEAEQFLRKT QIPENWEHAK YKWYLKELQD GIGQRQTVVR
2170 2180 2190 2200 2210 2220
| | | | | |
TLNATGEEII QQSSKTDASI LQEKLGSLNL RWQEVCKQLS DRKKRLEEQK NILSEFQRDL
2230 2240 2250 2260 2270 2280
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NEFVLWLEEA DNIASIPLEP GKEQQLKEKL EQVKLLVEEL PLRQGILKQL NETGGPVLVS
2290 2300 2310 2320 2330 2340
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APISPEEQDK LENKLKQTNL QWIKVSRALP EKQGEIEAQI KDLGQLEKKL EDLEEQLNHL
2350 2360 2370 2380 2390 2400
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LLWLSPIRNQ LEIYNQPNQE GPFDVQETEI AVQAKQPDVE EILSKGQHLY KEKPATQPVK
2410 2420 2430 2440 2450 2460
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RKLEDLSSEW KAVNRLLQEL RAKQPDLAPG LTTIGASPTQ TVTLVTQPVV TKETAISKLE
2470 2480 2490 2500 2510 2520
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MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI IKQKATMQDL
2530 2540 2550 2560 2570 2580
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EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ WDEVQEHLQN RRQQLNEMLK
2590 2600 2610 2620 2630 2640
| | | | | |
DSTQWLEAKE EAEQVLGQAR AKLESWKEGP YTVDAIQKKI TETKQLAKDL RQWQTNVDVA
2650 2660 2670 2680 2690 2700
| | | | | |
NDLALKLLRD YSADDTRKVH MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK
2710 2720 2730 2740 2750 2760
| | | | | |
FLAWLTEAET TANVLQDATR KERELEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ
2770 2780 2790 2800 2810 2820
| | | | | |
KILRSLEGSD DAVLLQRRLD NMNFKWSLLR KKSLNIRSHL EASSDQWKRL HLSLQELLVW
2830 2840 2850 2860 2870 2880
| | | | | |
LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP VIMSTLETVR IFLTEQPLEG
2890 2900 2910 2920 2930 2940
| | | | | |
LEKLYQEPRE LPPEERAQNV TRLLRKQAEE VNTEWEKLNL HSADWQRKID ETLERLQELQ
2950 2960 2970 2980 2990 3000
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EATDELDLKL RQAEVIKGSW QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR
3010 3020 3030 3040 3050 3060
| | | | | |
QLTTLGIQLS PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP
3070 3080 3090 3100 3110 3120
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WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM KLRRLQKALC
3130 3140 3150 3160 3170 3180
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LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR LEQEHNNLVN VPLCVDMCLN
3190 3200 3210 3220 3230 3240
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WLLNVYDTGR TGRIRVLSFK TGIISLCKAH LEDKYRYLFK QVASSTGFCD QRRLGLLLHD
3250 3260 3270 3280 3290 3300
| | | | | |
SIQIPRQLGE VASFGGSNIE PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR
3310 3320 3330 3340 3350 3360
| | | | | |
VAAAETAKHQ AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC
3370 3380 3390 3400 3410 3420
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TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPV TLINFWPVDS
3430 3440 3450 3460 3470 3480
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APASSPQLSH DDTHSRIEHY ASRLAEMENS NGSYLNDSIS PNESIDDEHL LIQHYCQSLN
3490 3500 3510 3520 3530 3540
| | | | | |
QDSPLSQPRS PAQILISLES EERGELERIL ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP
3550 3560 3570 3580 3590 3600
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SPPEMMPTSP QSPRDAELIA EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP
3610 3620 3630 3640 3650 3660
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QAEAKVNGTT VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM
3670 3680 3685
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EQLNNSFPSS RGRNTPGKPM REDTM
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View
entry in original SWISS-PROT format
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P11532 in FASTA
format
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