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Homo sapiens transthyretin (TTR), mRNA.


RefSeq Accession Definition Services Price Order
NM_000371 Homo sapiens transthyretin (TTR), mRNA. ORF Sequence $159.00
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RefSeq Version NM_000371.3, 221136767
Length 938 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens transthyretin (TTR), mRNA.
Product transthyretin precursor
Comment

Summary: This gene encodes transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid. Transthyretin is a carrier protein; it transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. The protein consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, carpal tunnel syndrome, etc. [provided by RefSeq, Jan 2009].

RefSeq NP_000362.1
CDS 137..580
Misc Feature(1)83..85
Misc Feature(2)83..85
Misc Feature(3)206..568
Misc Feature(4)order(239..241,245..247,356..358,512..514,518..520,
Misc Feature(5)order(251..262,455..463,470..472,476..484,530..532,
Misc Feature(6)320..322
Misc Feature(7)539..553
Exon (1)1..205
Gene:TTR
Gene Synonym:CTS; CTS1; HsT2651; PALB; TBPA
Exon (2)206..336
Gene:TTR
Gene Synonym:CTS; CTS1; HsT2651; PALB; TBPA
Exon (3)337..472
Gene:TTR
Gene Synonym:CTS; CTS1; HsT2651; PALB; TBPA
Exon (4)473..929
Gene:TTR
Gene Synonym:CTS; CTS1; HsT2651; PALB; TBPA
Translation MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDT WEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDS GPRRYTIAALLSPYSYSTTAVVTNPKE
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Position Chain Variation Link
114+a, gdbSNP:13380912
121+a, gdbSNP:11541788
149+c, tdbSNP:144792001
150+a, gdbSNP:138657343
212+dbSNP:
212+a, gdbSNP:1800458
213+g, tdbSNP:17406960
217+a, gdbSNP:201164521
224+c, tdbSNP:121918083
231+c, tdbSNP:121918094
249+a, gdbSNP:121918098
252+c, tdbSNP:11541795
254+a, gdbSNP:121918093
263+a, gdbSNP:11541800
266+a, gdbSNP:11541790
269+a, gdbSNP:104894664
276+a, gdbSNP:145551875
283+a, c, tdbSNP:11081703
284+a, c, gdbSNP:28933979
285+c, g, tdbSNP:79977247
293+a, c, tdbSNP:121918068
302+c, gdbSNP:121918077
314+a, gdbSNP:11541794
315+c, tdbSNP:113625622
321+a, gdbSNP:11541796
323+c, tdbSNP:1803083
326+c, tdbSNP:138065384
327+c, tdbSNP:104894665
329+a, gdbSNP:121918078
336+c, gdbSNP:121918090
341+dbSNP:
341+a, gdbSNP:121918081
345+g, tdbSNP:121918080
346+g, tdbSNP:121918076
354+a, gdbSNP:121918097
360+c, tdbSNP:121918079
362+c, tdbSNP:1803084
363+a, gdbSNP:78230119
369+a, g, tdbSNP:121918069
374+a, gdbSNP:121918070
377+a, gdbSNP:121918086
386+c, tdbSNP:121918091
387+c, tdbSNP:121918099
395+a, gdbSNP:11541799
398+a, tdbSNP:121918085
401+c, tdbSNP:121918100
406+a, cdbSNP:267607160
408+c, tdbSNP:121918084
426+a, cdbSNP:121918071
434+a, gdbSNP:1804117
447+g, tdbSNP:121918072
449+c, tdbSNP:11541784
451+c, tdbSNP:11541787
461+c, gdbSNP:121918082
464+a, cdbSNP:121918074
483+c, tdbSNP:1803082
485+g, tdbSNP:267607161
486+c, gdbSNP:121918087
490+a, cdbSNP:11541797
491+a, gdbSNP:76410435
494+c, tdbSNP:76591836
496+c, tdbSNP:150127220
501+a, cdbSNP:11541793
504+a, gdbSNP:148538950
507+a, gdbSNP:121918095
515+a, gdbSNP:121918089
520+c, tdbSNP:143906738
521+a, gdbSNP:267607159
522+c, tdbSNP:121918092
527+a, cdbSNP:121918073
534+c, tdbSNP:11541785
536+c, tdbSNP:121918088
537+a, gdbSNP:121918075
549+a, cdbSNP:1804118
552+c, tdbSNP:28933981
553+a, gdbSNP:2276382
560..562+, gtcdbSNP:121918096
560+a, gdbSNP:76992529
562+c, tdbSNP:11541782
567+a, gdbSNP:144965179
570+a, cdbSNP:11541798
583..591+, gacttctccdbSNP:143948820
601+a, cdbSNP:12226
602+c, tdbSNP:11541786
620+g, tdbSNP:189110724
660+c, gdbSNP:1061978
696+c, tdbSNP:11541783
727+a, cdbSNP:77192274
728+a, tdbSNP:74923234
829+a, gdbSNP:146228604
834+a, gdbSNP:193070048
841+c, tdbSNP:62093482
885+a, gdbSNP:184588853
925+a, gdbSNP:58172837
Gene SymbolTTR
Gene SynonymCTS; CTS1; HsT2651; PALB; TBPA
Chromosome18
Locus Map18q12.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000371 Homo sapiens transthyretin (TTR), mRNA. Full Length $272.02
ORF Sequence $159.00
Title Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation .
Author Gonzalez-Duarte,A., Soto,K.C., Martinez-Banos,D., Arteaga-Vazquez,J., Barrera,F., Berenguer-Sanchez,M., Cantu-Brito,C., Garcia-Ramos,G. and Estanol Vidal,B.
Journal Amyloid 19 (4), 171-176 (2012)
Title Clinical and genetic findings in eight Israeli patients with transthyretin-associated familial amyloid polyneuropathy .
Author Leibou,L., Frand,J., Sadeh,M., Lossos,A., Kremer,E., Livneh,A., Yarnitsky,D., Herman,O. and Dabby,R.
Journal Isr. Med. Assoc. J. 14 (11), 662-665 (2012)
Title Transthyretin (TTR) cardiac amyloidosis .
Author Ruberg,F.L. and Berk,J.L.
Journal Circulation 126 (10), 1286-1300 (2012)
Title Distinct annular oligomers captured along the assembly and disassembly pathways of transthyretin amyloid protofibrils .
Author Pires,R.H., Karsai,A., Saraiva,M.J., Damas,A.M. and Kellermayer,M.S.
Journal PLoS ONE 7 (9), E44992 (2012)
Title Increased energy intake in hip fracture patients affects nutritional biochemical markers .
Author Gunnarsson,A.K., Akerfeldt,T., Larsson,S. and Gunningberg,L.
Journal Scand J Surg 101 (3), 204-210 (2012)
Title Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis .
Author Almeida,M.R., Ferlini,A., Forabosco,A., Gawinowicz,M., Costa,P.P., Salvi,F., Plasmati,R., Tassinari,C.A., Altland,K. and Saraiva,M.J.
Journal Hum. Mutat. 1 (3), 211-215 (1992)
Title Interaction between prealbumin and retinol-binding protein studied by affinity chromatography, gel filtration and two-phase partition .
Author Fex,G., Albertsson,P.A. and Hansson,B.
Journal Eur. J. Biochem. 99 (2), 353-360 (1979)
Title Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A .
Author Blake,C.C., Geisow,M.J., Oatley,S.J., Rerat,B. and Rerat,C.
Journal J. Mol. Biol. 121 (3), 339-356 (1978)
Title Protein-DNA and protein-hormone interactions in prealbumin: a model of the thyroid hormone nuclear receptor? .
Author Blake,C.C. and Oatley,S.J.
Journal Nature 268 (5616), 115-120 (1977)
Title The interaction between retinol-binding proteins and prealbumins studied by fluorescence polarization .
Author Kopelman,M., Cogan,U., Mokady,S. and Shinitzky,M.
Journal Biochim. Biophys. Acta 439 (2), 449-460 (1976)

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