Reviewed, UniProtKB/Swiss-Prot Q09013 (DMPK_HUMAN)

Names and origin

Protein names

Recommended name:
    Myotonin-protein kinase
    EC=2.7.11.1
Alternative name(s):
    Myotonic dystrophy protein kinase
      Short name(s)=MDPK
    DMPK
    DM-kinase
      Short name(s)=DMK
    MT-PK

Gene names

Name:	DMPK
Synonyms:	MDPK

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	639 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Critical to the modulation of cardiac contractility and to the maintenance of proper cardiac conduction activity. Phosphorylates phospholamban.
Catalytic activity	ATP + a protein = ADP + a phosphoprotein.
Cofactor	Magnesium.
Enzyme regulation	Activated in response to G protein second messengers. Maintained in an inactive conformation by the negative autoregulatory C-terminal coiled-coil region. Coiled-coil mediated oligomerization correlated with enhanced catalytic activity as is proteolytically cleavage near the C-terminus.
Tissue specificity	Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels in the striatum, cerebellar cortex and pons.
Involvement in disease	Defects in DMPK are the cause of myotonic dystrophy 1 (DM1) [MIM:160900]; also known as Steinert disease. DM is an autosomal dominant neurodegenerative disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness, and cardiac arrhythmias. DM patients show decreased levels of kinase expression inversely related to repeat length. The minimum estimated incidence is 1 in 8'000 live births. DM1 is caused by a CTG expansion in the 3'-UTR of the DMPK gene. The repeat length usually increases in successive generations, but not always.
Sequence similarities	Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily. Contains 1 AGC-kinase C-terminal domain. Contains 1 protein kinase domain.
Sequence caution	Ref.6 sequence differs from that shown. Reason: Frameshift at position 632.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cataract
Domain	Coiled coil
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Kinase Serine/threonine-protein kinase Transferase
PTM	Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	protein amino acid phosphorylation Ref.9 Inferred from direct assay. Source: UniProtKB regulation of heart contraction Ref.11 Inferred from direct assay. Source: UniProtKB regulation of small GTPase mediated signal transduction Inferred from physical interaction. Source: UniProtKB
Molecular function	ATP binding Ref.9 Inferred from direct assay. Source: UniProtKB identical protein binding Inferred from physical interaction. Source: UniProtKB protein serine/threonine kinase activity Ref.9 Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PLN	P26678	2	EBI-692774,EBI-692836

Alternative products

This entry describes 13 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q09013-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q09013-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-99: Missing.

Isoform 5 (identifier: Q09013-5)

The sequence of this isoform differs from the canonical sequence as follows:
     236-285: Missing.

Isoform 6 (identifier: Q09013-6)

The sequence of this isoform differs from the canonical sequence as follows:
     388-392: Missing.

Isoform 7 (identifier: Q09013-7)

The sequence of this isoform differs from the canonical sequence as follows:
     560-589: Missing.

Isoform 8 (identifier: Q09013-8)

The sequence of this isoform differs from the canonical sequence as follows:
     544-545: AV → GP
     546-639: Missing.

Isoform 9 (identifier: Q09013-9)

The sequence of this isoform differs from the canonical sequence as follows:
     1-63: MGGHFWPPEP...PRFFSPTTPP → MSAEVRLRRL...DKYVADFLQW

Isoform 10 (identifier: Q09013-10)

The sequence of this isoform differs from the canonical sequence as follows:
     1-63: MGGHFWPPEP...PRFFSPTTPP → MSAEVRLRRL...DKYVADFLQW
     544-545: AV → GP
     546-639: Missing.

Isoform 11 (identifier: Q09013-11)

The sequence of this isoform differs from the canonical sequence as follows:
     1-63: MGGHFWPPEP...PRFFSPTTPP → MSAEVRLRRL...DKYVADFLQW
     388-392: Missing.

Notes: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoform 12 (identifier: Q09013-12)

The sequence of this isoform differs from the canonical sequence as follows:
     1-63: MGGHFWPPEP...PRFFSPTTPP → MSAEVRLRRL...DKYVADFLQW
     388-392: Missing.
     544-545: AV → GP
     546-639: Missing.

Isoform 13 (identifier: Q09013-13)

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.
     52-63: GDPRFFSPTTPP → PQDKYVADFLQW
     388-392: Missing.
     566-578: VAVGQCPLVGPGP → WLWASARWWGQA

Notes: Incomplete sequence. Ref.7 (AAA64884) sequence differs from that shown due to a frameshift at position 15.

Isoform 14 (identifier: Q09013-14)

The sequence of this isoform differs from the canonical sequence as follows:
     1-538: Missing.
     545-575: VTGVPSPRATDPPSHLDGPPAVAVGQCPLVG → RWPPGRGCGPVPAGGARPHAPPPPAAPCQGP
     576-639: Missing.

Notes: Incomplete sequence.

Isoform 15 (identifier: Q09013-15)

The sequence of this isoform differs from the canonical sequence as follows:
     1-63: MGGHFWPPEP...PRFFSPTTPP → MSAEVRLRRL...DKYVADFLQW
     388-392: Missing.
     560-639: LDGPPAVAVG...WRRPGAARAP → MAPRPWLWAS...AQEPPALPEP

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Molecule processing

Chain

1 – 639

639

Myotonin-protein kinase

Regions

Domain

81 – 349

269

Protein kinase

Domain

350 – 425

76

AGC-kinase C-terminal

Nucleotide binding

87 – 95

9

ATP By similarity

Coiled coil

467 – 546

80

Potential

Sites

Active site

205

1

Proton acceptor By similarity

Binding site

110

1

ATP

Amino acid modifications

Modified residue

226

1

Phosphoserine; by autocatalysis By similarity

Modified residue

238

1

Phosphoserine; by autocatalysis By similarity

Modified residue

244

1

Phosphothreonine; by autocatalysis By similarity

Natural variations

Alternative sequence

1 – 538

538

Missing in isoform 14.

Alternative sequence

1 – 99

99

Missing in isoform 2.

Alternative sequence

1 – 63

63

MGGHF…PTTPP → MSAEVRLRRLQQLVLDPGFL GLEPLLDLLLGVHQELGASE LAQDKYVADFLQW in isoform 9, isoform 10, isoform 11, isoform 12 and isoform 15.

Alternative sequence

1 – 51

51

Missing in isoform 13.

Alternative sequence

52 – 63

12

GDPRF…PTTPP → PQDKYVADFLQW in isoform 13.

Alternative sequence

236 – 285

50

Missing in isoform 5.

Alternative sequence

388 – 392

5

Missing in isoform 6, isoform 11, isoform 12, isoform 13 and isoform 15.

Alternative sequence

544 – 545

2

AV → GP in isoform 8, isoform 10 and isoform 12.

Alternative sequence

545 – 575

31

VTGVP…CPLVG → RWPPGRGCGPVPAGGARPHA PPPPAAPCQGP in isoform 14.

Alternative sequence

546 – 639

94

Missing in isoform 8, isoform 10 and isoform 12.

Alternative sequence

560 – 639

80

LDGPP…AARAP → MAPRPWLWASARWWGQAPCT AATCCSLPGSLGLAYRRRFP CSCSPLFCLVPPPWAALGWW PTPANSPQSGAAQEPPALPE P in isoform 15.

Alternative sequence

560 – 589

30

Missing in isoform 7.

Alternative sequence

566 – 578

13

VAVGQ…VGPGP → WLWASARWWGQA in isoform 13.

Alternative sequence

576 – 639

64

Missing in isoform 14.

Natural variant

438

1

L → V in a lung small cell carcinoma sample; somatic mutation.

Experimental info

Mutagenesis

110

1

K → A: Loss of kinase activity

Sequence conflict

427

1

G → A Ref.6

Sequence conflict

433

1

V → L in AAB31800. Ref.1 Ref.5

Sequence conflict

484

1

A → P in AAB31800. Ref.5

Secondary structure

1

.

.

.

639

Helix Strand Turn

Details...

Helix

478 – 538

61

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: A2A841B14F0F5B6C	FASTA	639	70,357
	10 20 30 40 50 60 MGGHFWPPEP YTVFMWGSPW EADSPRVKLR GREKGRQTEG GAFPLVSSAL SGDPRFFSPT 70 80 90 100 110 120 TPPAEPIVVR LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR 130 140 150 160 170 180 GEVSCFREER DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE 190 200 210 220 230 240 MARFYLAEIV MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV 250 260 270 280 290 300 AVGTPDYLSP EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI 310 320 330 340 350 360 VHYKEHLSLP LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS 370 380 390 400 410 420 VPPFTPDFEG ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF VGYSYSCMAL 430 440 450 460 470 480 RDSEVPGPTP MEVEAEQLLE PHVQAPSLEP SVSPQDETAE VAVPAAVPAA EAEAEVTLRE 490 500 510 520 530 540 LQEALEEEVL TRQSLSREME AIRTDNQNFA SQLREAEARN RDLEAHVRQL QERMELLQAE 550 560 570 580 590 600 GATAVTGVPS PRATDPPSHL DGPPAVAVGQ CPLVGPGPMH RRHLLLPARV PRPGLSEALS 610 620 630 LLLFAVVLSR AAALGCIGLV AHAGQLTAVW RRPGAARAP
	Isoform 2 [UniParc]. Checksum: 6CBB018DB835D308		540	59,320
	10 20 30 40 50 60 MKQTGQVYAM KIMNKWDMLK RGEVSCFREE RDVLVNGDRR WITQLHFAFQ DENYLYLVME 70 80 90 100 110 120 YYVGGDLLTL LSKFGERIPA EMARFYLAEI VMAIDSVHRL GYVHRDIKPD NILLDRCGHI 130 140 150 160 170 180 RLADFGSCLK LRADGTVRSL VAVGTPDYLS PEILQAVGGG PGTGSYGPEC DWWALGVFAY 190 200 210 220 230 240 EMFYGQTPFY ADSTAETYGK IVHYKEHLSL PLVDEGVPEE ARDFIQRLLC PPETRLGRGG 250 260 270 280 290 300 AGDFRTHPFF FGLDWDGLRD SVPPFTPDFE GATDTCNFDL VEDGLTAMVS GGGETLSDIR 310 320 330 340 350 360 EGAPLGVHLP FVGYSYSCMA LRDSEVPGPT PMEVEAEQLL EPHVQAPSLE PSVSPQDETA 370 380 390 400 410 420 EVAVPAAVPA AEAEAEVTLR ELQEALEEEV LTRQSLSREM EAIRTDNQNF ASQLREAEAR 430 440 450 460 470 480 NRDLEAHVRQ LQERMELLQA EGATAVTGVP SPRATDPPSH LDGPPAVAVG QCPLVGPGPM 490 500 510 520 530 540 HRRHLLLPAR VPRPGLSEAL SLLLFAVVLS RAAALGCIGL VAHAGQLTAV WRRPGAARAP
	Isoform 5 [UniParc]. Checksum: EE588689CFD12AB5		589	65,062
	10 20 30 40 50 60 MGGHFWPPEP YTVFMWGSPW EADSPRVKLR GREKGRQTEG GAFPLVSSAL SGDPRFFSPT 70 80 90 100 110 120 TPPAEPIVVR LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR 130 140 150 160 170 180 GEVSCFREER DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE 190 200 210 220 230 240 MARFYLAEIV MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTTPFYA 250 260 270 280 290 300 DSTAETYGKI VHYKEHLSLP LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF 310 320 330 340 350 360 GLDWDGLRDS VPPFTPDFEG ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF 370 380 390 400 410 420 VGYSYSCMAL RDSEVPGPTP MEVEAEQLLE PHVQAPSLEP SVSPQDETAE VAVPAAVPAA 430 440 450 460 470 480 EAEAEVTLRE LQEALEEEVL TRQSLSREME AIRTDNQNFA SQLREAEARN RDLEAHVRQL 490 500 510 520 530 540 QERMELLQAE GATAVTGVPS PRATDPPSHL DGPPAVAVGQ CPLVGPGPMH RRHLLLPARV 550 560 570 580 PRPGLSEALS LLLFAVVLSR AAALGCIGLV AHAGQLTAVW RRPGAARAP
	Isoform 6 [UniParc]. Checksum: 5FF3EA0F9AFF9CA8		634	70,000
	10 20 30 40 50 60 MGGHFWPPEP YTVFMWGSPW EADSPRVKLR GREKGRQTEG GAFPLVSSAL SGDPRFFSPT 70 80 90 100 110 120 TPPAEPIVVR LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR 130 140 150 160 170 180 GEVSCFREER DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE 190 200 210 220 230 240 MARFYLAEIV MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV 250 260 270 280 290 300 AVGTPDYLSP EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI 310 320 330 340 350 360 VHYKEHLSLP LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS 370 380 390 400 410 420 VPPFTPDFEG ATDTCNFDLV EDGLTAMETL SDIREGAPLG VHLPFVGYSY SCMALRDSEV 430 440 450 460 470 480 PGPTPMEVEA EQLLEPHVQA PSLEPSVSPQ DETAEVAVPA AVPAAEAEAE VTLRELQEAL 490 500 510 520 530 540 EEEVLTRQSL SREMEAIRTD NQNFASQLRE AEARNRDLEA HVRQLQERME LLQAEGATAV 550 560 570 580 590 600 TGVPSPRATD PPSHLDGPPA VAVGQCPLVG PGPMHRRHLL LPARVPRPGL SEALSLLLFA 610 620 630 VVLSRAAALG CIGLVAHAGQ LTAVWRRPGA ARAP
	Isoform 7 [UniParc]. Checksum: F37FA0E9582576CF		609	67,249
	10 20 30 40 50 60 MGGHFWPPEP YTVFMWGSPW EADSPRVKLR GREKGRQTEG GAFPLVSSAL SGDPRFFSPT 70 80 90 100 110 120 TPPAEPIVVR LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR 130 140 150 160 170 180 GEVSCFREER DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE 190 200 210 220 230 240 MARFYLAEIV MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV 250 260 270 280 290 300 AVGTPDYLSP EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI 310 320 330 340 350 360 VHYKEHLSLP LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS 370 380 390 400 410 420 VPPFTPDFEG ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF VGYSYSCMAL 430 440 450 460 470 480 RDSEVPGPTP MEVEAEQLLE PHVQAPSLEP SVSPQDETAE VAVPAAVPAA EAEAEVTLRE 490 500 510 520 530 540 LQEALEEEVL TRQSLSREME AIRTDNQNFA SQLREAEARN RDLEAHVRQL QERMELLQAE 550 560 570 580 590 600 GATAVTGVPS PRATDPPSHV PRPGLSEALS LLLFAVVLSR AAALGCIGLV AHAGQLTAVW RRPGAARAP
	Isoform 8 [UniParc]. Checksum: A4C6626D38FE924F		545	60,776
	10 20 30 40 50 60 MGGHFWPPEP YTVFMWGSPW EADSPRVKLR GREKGRQTEG GAFPLVSSAL SGDPRFFSPT 70 80 90 100 110 120 TPPAEPIVVR LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR 130 140 150 160 170 180 GEVSCFREER DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE 190 200 210 220 230 240 MARFYLAEIV MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV 250 260 270 280 290 300 AVGTPDYLSP EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI 310 320 330 340 350 360 VHYKEHLSLP LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS 370 380 390 400 410 420 VPPFTPDFEG ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF VGYSYSCMAL 430 440 450 460 470 480 RDSEVPGPTP MEVEAEQLLE PHVQAPSLEP SVSPQDETAE VAVPAAVPAA EAEAEVTLRE 490 500 510 520 530 540 LQEALEEEVL TRQSLSREME AIRTDNQNFA SQLREAEARN RDLEAHVRQL QERMELLQAE GATGP
	Isoform 9 [UniParc]. Checksum: 8D784E05AE1562C7		629	69,371
	10 20 30 40 50 60 MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR 70 80 90 100 110 120 LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER 130 140 150 160 170 180 DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV 190 200 210 220 230 240 MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP 250 260 270 280 290 300 EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP 310 320 330 340 350 360 LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG 370 380 390 400 410 420 ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF VGYSYSCMAL RDSEVPGPTP 430 440 450 460 470 480 MEVEAEQLLE PHVQAPSLEP SVSPQDETAE VAVPAAVPAA EAEAEVTLRE LQEALEEEVL 490 500 510 520 530 540 TRQSLSREME AIRTDNQNFA SQLREAEARN RDLEAHVRQL QERMELLQAE GATAVTGVPS 550 560 570 580 590 600 PRATDPPSHL DGPPAVAVGQ CPLVGPGPMH RRHLLLPARV PRPGLSEALS LLLFAVVLSR 610 620 AAALGCIGLV AHAGQLTAVW RRPGAARAP
	Isoform 10 [UniParc]. Checksum: D1CFC316F4C32F34		535	59,790
	10 20 30 40 50 60 MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR 70 80 90 100 110 120 LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER 130 140 150 160 170 180 DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV 190 200 210 220 230 240 MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP 250 260 270 280 290 300 EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP 310 320 330 340 350 360 LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG 370 380 390 400 410 420 ATDTCNFDLV EDGLTAMVSG GGETLSDIRE GAPLGVHLPF VGYSYSCMAL RDSEVPGPTP 430 440 450 460 470 480 MEVEAEQLLE PHVQAPSLEP SVSPQDETAE VAVPAAVPAA EAEAEVTLRE LQEALEEEVL 490 500 510 520 530 TRQSLSREME AIRTDNQNFA SQLREAEARN RDLEAHVRQL QERMELLQAE GATGP
	Isoform 11 [UniParc]. Checksum: B5CA413C9AF431B5		624	69,014
	10 20 30 40 50 60 MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR 70 80 90 100 110 120 LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER 130 140 150 160 170 180 DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV 190 200 210 220 230 240 MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP 250 260 270 280 290 300 EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP 310 320 330 340 350 360 LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG 370 380 390 400 410 420 ATDTCNFDLV EDGLTAMETL SDIREGAPLG VHLPFVGYSY SCMALRDSEV PGPTPMEVEA 430 440 450 460 470 480 EQLLEPHVQA PSLEPSVSPQ DETAEVAVPA AVPAAEAEAE VTLRELQEAL EEEVLTRQSL 490 500 510 520 530 540 SREMEAIRTD NQNFASQLRE AEARNRDLEA HVRQLQERME LLQAEGATAV TGVPSPRATD 550 560 570 580 590 600 PPSHLDGPPA VAVGQCPLVG PGPMHRRHLL LPARVPRPGL SEALSLLLFA VVLSRAAALG 610 620 CIGLVAHAGQ LTAVWRRPGA ARAP
	Isoform 12 [UniParc]. Checksum: 15864439010185C8		530	59,432
	10 20 30 40 50 60 MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR 70 80 90 100 110 120 LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER 130 140 150 160 170 180 DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV 190 200 210 220 230 240 MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP 250 260 270 280 290 300 EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP 310 320 330 340 350 360 LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG 370 380 390 400 410 420 ATDTCNFDLV EDGLTAMETL SDIREGAPLG VHLPFVGYSY SCMALRDSEV PGPTPMEVEA 430 440 450 460 470 480 EQLLEPHVQA PSLEPSVSPQ DETAEVAVPA AVPAAEAEAE VTLRELQEAL EEEVLTRQSL 490 500 510 520 530 SREMEAIRTD NQNFASQLRE AEARNRDLEA HVRQLQERME LLQAEGATGP
	Isoform 13 [UniParc]. Checksum: 70C6B26CE89563FD		582	64,842
	10 20 30 40 50 60 PQDKYVADFL QWAEPIVVRL KEVRLQRDDF EILKVIGRGA FSEVAVVKMK QTGQVYAMKI 70 80 90 100 110 120 MNKWDMLKRG EVSCFREERD VLVNGDRRWI TQLHFAFQDE NYLYLVMEYY VGGDLLTLLS 130 140 150 160 170 180 KFGERIPAEM ARFYLAEIVM AIDSVHRLGY VHRDIKPDNI LLDRCGHIRL ADFGSCLKLR 190 200 210 220 230 240 ADGTVRSLVA VGTPDYLSPE ILQAVGGGPG TGSYGPECDW WALGVFAYEM FYGQTPFYAD 250 260 270 280 290 300 STAETYGKIV HYKEHLSLPL VDEGVPEEAR DFIQRLLCPP ETRLGRGGAG DFRTHPFFFG 310 320 330 340 350 360 LDWDGLRDSV PPFTPDFEGA TDTCNFDLVE DGLTAMETLS DIREGAPLGV HLPFVGYSYS 370 380 390 400 410 420 CMALRDSEVP GPTPMEVEAE QLLEPHVQAP SLEPSVSPQD ETAEVAVPAA VPAAEAEAEV 430 440 450 460 470 480 TLRELQEALE EEVLTRQSLS REMEAIRTDN QNFASQLREA EARNRDLEAH VRQLQERMEL 490 500 510 520 530 540 LQAEGATAVT GVPSPRATDP PSHLDGPPAW LWASARWWGQ AMHRRHLLLP ARVPRPGLSE 550 560 570 580 ALSLLLFAVV LSRAAALGCI GLVAHAGQLT AVWRRPGAAR AP
	Isoform 14 [UniParc]. Checksum: AFD4477D193D0652		37	3,510
	10 20 30 AEGATARWPP GRGCGPVPAG GARPHAPPPP AAPCQGP
	Isoform 15 [UniParc]. Checksum: 61E101F725AD3BAA		625	69,578
	10 20 30 40 50 60 MSAEVRLRRL QQLVLDPGFL GLEPLLDLLL GVHQELGASE LAQDKYVADF LQWAEPIVVR 70 80 90 100 110 120 LKEVRLQRDD FEILKVIGRG AFSEVAVVKM KQTGQVYAMK IMNKWDMLKR GEVSCFREER 130 140 150 160 170 180 DVLVNGDRRW ITQLHFAFQD ENYLYLVMEY YVGGDLLTLL SKFGERIPAE MARFYLAEIV 190 200 210 220 230 240 MAIDSVHRLG YVHRDIKPDN ILLDRCGHIR LADFGSCLKL RADGTVRSLV AVGTPDYLSP 250 260 270 280 290 300 EILQAVGGGP GTGSYGPECD WWALGVFAYE MFYGQTPFYA DSTAETYGKI VHYKEHLSLP 310 320 330 340 350 360 LVDEGVPEEA RDFIQRLLCP PETRLGRGGA GDFRTHPFFF GLDWDGLRDS VPPFTPDFEG 370 380 390 400 410 420 ATDTCNFDLV EDGLTAMETL SDIREGAPLG VHLPFVGYSY SCMALRDSEV PGPTPMEVEA 430 440 450 460 470 480 EQLLEPHVQA PSLEPSVSPQ DETAEVAVPA AVPAAEAEAE VTLRELQEAL EEEVLTRQSL 490 500 510 520 530 540 SREMEAIRTD NQNFASQLRE AEARNRDLEA HVRQLQERME LLQAEGATAV TGVPSPRATD 550 560 570 580 590 600 PPSHMAPRPW LWASARWWGQ APCTAATCCS LPGSLGLAYR RRFPCSCSPL FCLVPPPWAA 610 620 LGWWPTPANS PQSGAAQEPP ALPEP

References

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[1]	"An unstable triplet repeat in a gene related to myotonic muscular dystrophy." Fu Y.-H., Pizzuti A., Fenwick R.G. Jr., King J., Rajnarayan S., Dunne P.W., Dubel J., Nasser G.A., Ashizawa T., de Jong P.J., Wieringa B., Korneluk R., Perryman M.B., Epstein H.F., Caskey C.T. Science 255:1256-1258(1992) [PubMed: 1546326] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy." Fu Y.-H., Friedman D.L., Richards S., Pearlman J.A., Gibbs R.A.,