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Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18259 Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu18259C Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000258.2, 115527085
Length 588 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.
Product myosin light chain 3
Comment

Summary: MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008].

RefSeq NP_000249.1
CDS 94..681
Misc Feature(1)25..27
Misc Feature(2)223..675
Misc Feature(3)223..675
Misc Feature(4)487..672
Misc Feature(5)496..498
Misc Feature(6)order(514..516,520..522,526..528,547..549,619..621,
Exon (1)1..222
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (2)223..250
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (3)251..400
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (4)401..574
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (5)575..652
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (6)653..694
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Exon (7)695..929
Gene:MYL3
Gene Synonym:CMH8; MLC1SB; MLC1V; VLC1
Translation MAPKKPEPKKDDAKAAPKAAPAPAPPPEPERPKEVEFDASKIKIEFTPEQIEEFKEAFML FDRTPKCEMKITYGQCGDVLRALGQNPTQAEVLRVLGKPRQEELNTKMMDFETFLPMLQH ISKNKDTGTYEDFVEGLRVFDKEGNGTVMGAELRHVLATLGERLTEDEVEKLMAGQEDSN GCINYEAFVKHIMSS
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Position Chain Variation Link
complement(4)-dbSNP:
complement(4)-g, adbSNP:372094875
complement(66)-t, adbSNP:376139990
complement(67)-g, adbSNP:201910884
70+c, gdbSNP:1042407
complement(79)-t, adbSNP:370969543
complement(97)-g, cdbSNP:148310342
102+c, gdbSNP:397516280
complement(129)-g, adbSNP:138567316
complement(148)-c, adbSNP:141778691
162+c, tdbSNP:2233264
complement(164)-g, adbSNP:373278317
complement(166)-g, adbSNP:369256548
complement(174)-g, adbSNP:147584015
complement(184)-g, adbSNP:377026344
complement(185)-t, cdbSNP:199639940
258+dbSNP:
258+a, gdbSNP:397516277
260+a, gdbSNP:199474702
complement(263)-t, g, c, adbSNP:139794067
complement(276)-g, adbSNP:368118534
complement(281)-t, cdbSNP:139354105
complement(315)-t, cdbSNP:144543453
complement(320)-t, cdbSNP:370857205
complement(328)-t, cdbSNP:150634297
complement(339)-t, cdbSNP:368364468
374+a, gdbSNP:199474703
431+dbSNP:
431+c, tdbSNP:397516278
complement(467)-t, cdbSNP:377597439
475+g, tdbSNP:199474704
complement(492)-g, adbSNP:112992334
504+g, tdbSNP:2233265
complement(513)-g, adbSNP:201138698
520+a, gdbSNP:104893750
538+a, gdbSNP:104893748
complement(539)-g, adbSNP:202141423
547+a, gdbSNP:199474705
complement(553)-g, adbSNP:143852164
554+a, gdbSNP:104893749
556+c, gdbSNP:199474706
complement(558)-g, adbSNP:147125759
559+a, gdbSNP:199474707
complement(570)-t, c, adbSNP:148365503
complement(577)-dbSNP:
complement(577)-t, cdbSNP:371642547
complement(582)-t, cdbSNP:267599847
complement(609)-t, cdbSNP:367761724
610+a, gdbSNP:199474708
613+c, gdbSNP:397516279
623+a, gdbSNP:193922391
complement(625)-t, cdbSNP:145520567
complement(645)-g, adbSNP:140829951
complement(650)-t, gdbSNP:374329098
complement(663)-dbSNP:
complement(663)-g, cdbSNP:374293766
complement(689)-t, cdbSNP:201092907
complement(690)-g, adbSNP:202234617
708+dbSNP:
708+a, gdbSNP:199474710
770+a, gdbSNP:1042973
Gene SymbolMYL3
Gene SynonymCMH8; MLC1SB; MLC1V; VLC1
Chromosome3
Locus Map3p21.3-p21.2
Title Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy .
Author Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG and Rame JE.
Journal Am. J. Med. Genet. A 155A (9), 2229-2235 (2011)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC and Anand S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations .
Author Girolami F, Ho CY, Semsarian C, Baldi M, Will ML, Baldini K, Torricelli F, Yeates L, Cecchi F, Ackerman MJ and Olivotto I.
Journal J. Am. Coll. Cardiol. 55 (14), 1444-1453 (2010)
Title Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip .
Author Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE and Hingorani AD.
Journal Am. J. Hum. Genet. 85 (5), 628-642 (2009)
Title Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy .
Author Kaski JP, Syrris P, Esteban MT, Jenkins S, Pantazis A, Deanfield JE, McKenna WJ and Elliott PM.
Journal Circ Cardiovasc Genet 2 (5), 436-441 (2009)
Title Hypertrophic Cardiomyopathy Overview .
Author Cirino,A.L. and Ho,C.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Analysis of the upstream regulatory region of human ventricular myosin light chain 1 gene .
Author Shi Q, Li RK, Mickle DA and Jackowski G.
Journal J. Mol. Cell. Cardiol. 24 (11), 1221-1229 (1992)
Title Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location .
Author Fodor WL, Darras B, Seharaseyon J, Falkenthal S, Francke U and Vanin EF.
Journal J. Biol. Chem. 264 (4), 2143-2149 (1989)
Title Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4) .
Author Cohen-Haguenauer O, Barton PJ, Van Cong N, Cohen A, Masset M, Buckingham M and Frezal J.
Journal Hum. Genet. 81 (3), 278-282 (1989)
Title Chromosomal rearrangement generating a composite gene for a developmental transcription factor .
Author Stragier P, Kunkel B, Kroos L and Losick R.
Journal Science 243 (4890), 507-512 (1989)

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