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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu48838 Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu48838C Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. Customized vector On-demand $269.00 7-9

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_001198536.1, 309384275
Length 1338 bp
Structure linear
Update Date 05-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA.
Product pyrin isoform 2
Comment

Summary: This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant lacks an alternate in-frame exon and uses an alternate splice junction at the 5' end of an exon, that causes a frameshift. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.

RefSeq NP_001185465.1
CDS 41..1378
Misc Feature(1)56..304
Misc Feature(2)56..304
Misc Feature(3)524..643
Misc Feature(4)order(530..532,539..541,599..601,617..619)
Misc Feature(5)<614..799
Exon (1)1..317
Gene:MEFV
Gene Synonym:FMF; MEF; TRIM20
Exon (2)318..667
Gene:MEFV
Gene Synonym:FMF; MEF; TRIM20
Exon (3)668..763
Gene:MEFV
Gene Synonym:FMF; MEF; TRIM20
Exon (4)764..994
Gene:MEFV
Gene Synonym:FMF; MEF; TRIM20
Exon (5)995..1017
Gene:MEFV
Gene Synonym:FMF; MEF; TRIM20
Exon (6)1018..1133
Gene:MEFV
Gene Synonym:FMF; MEF; TRIM20
Exon (7)1134..1166
Gene:MEFV
Gene Synonym:FMF; MEF; TRIM20
Exon (8)1167..1374
Gene:MEFV
Gene Synonym:FMF; MEF; TRIM20
Exon (9)1375..3041
Gene:MEFV
Gene Synonym:FMF; MEF; TRIM20
Translation MAKTPSDHLLSTLEELVPYDFEKFKFKLQNTSVQKEHSRIPRSQIQRARPVKMATLLVTY YGEEYAVQLTLQVLRAINQRLLAEELHRAAIQGRPPDTAASPRCHAQEGDPVDGTCVRDS CSFPEAVSGHPQASGSRSPGCPRCQDSHERKSPGSLSPQPLPQCKRHLKQVQLLFCEDHD EPICLICSLSQEHQGHRVRPIEEVALEHKKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSF LKQTEALKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAYDTRVSQDIALLDA LIGELEAKECQSEWELLQDIGDILHRAKTVPVPEKWTTPQEIKQKIQLLHQKSEFVEKST KYFSETLRSEMEMFNDHSPQHGLGSWEERDYTQHSMQGPKQGVPCLSLLSGQCNLAPLNA NAQDFFPYLIFLRSSRADWRSGTCC
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Position Chain Variation Link
complement(19)-dbSNP:
complement(19)-g, adbSNP:368149369
26+c, gdbSNP:11466015
complement(28)-g, cdbSNP:200991336
29+c, gdbSNP:104895148
complement(45)-g, cdbSNP:200148051
65+c, tdbSNP:104895146
complement(72)-g, cdbSNP:149693562
complement(77)-g, cdbSNP:139448379
complement(82)-t, cdbSNP:113314808
complement(104)-t, cdbSNP:145289162
complement(135)-t, cdbSNP:139799330
complement(137)-t, gdbSNP:386518332
137+g, tdbSNP:11466016
complement(146)-t, cdbSNP:370338872
complement(156)-t, cdbSNP:141288548
complement(164)-g, adbSNP:61754767
complement(189)-g, adbSNP:144716190
complement(190)-t, cdbSNP:376952748
complement(212)-c, adbSNP:372477251
complement(220)-t, gdbSNP:371505752
235+c, tdbSNP:104895077
complement(237)-g, adbSNP:267604535
complement(238)-g, adbSNP:149380763
complement(264)-t, cdbSNP:376891162
complement(271)-t, gdbSNP:139899201
complement(273)-t, cdbSNP:145015653
complement(279)-t, cdbSNP:201075710
complement(289)-g, adbSNP:141422964
complement(290)-t, cdbSNP:150819742
305+a, gdbSNP:104895124
complement(308)-g, cdbSNP:376971129
complement(309)-g, adbSNP:370801391
complement(317)-g, cdbSNP:138498376
complement(329)-dbSNP:
complement(329)-c, adbSNP:368322244
complement(330)-t, adbSNP:374104831
333+c, tdbSNP:104895155
complement(334)-t, cdbSNP:145872265
complement(339)-g, adbSNP:74346519
348+a, gdbSNP:104895204
349+c, tdbSNP:224213
complement(349)-g, adbSNP:386562303
complement(355)-g, adbSNP:150252937
complement(356)-t, cdbSNP:200527263
362+a, gdbSNP:104895110
complement(366)-g, cdbSNP:374412819
complement(379)-g, adbSNP:140776637
complement(380)-t, cdbSNP:146862274
390+c, tdbSNP:104895203
393+a, gdbSNP:104895112
423+c, tdbSNP:104895157
complement(441)-g, adbSNP:75446425
complement(445)-g, cdbSNP:141090517
450+a, gdbSNP:104895198
463+c, tdbSNP:104895164
complement(465)-g, adbSNP:370092885
467+c, tdbSNP:104895116
complement(473)-g, cdbSNP:377754606
complement(481)-g, cdbSNP:369382646
complement(489)-g, cdbSNP:190405488
496+c, tdbSNP:104895170
498+c, tdbSNP:104895214
499+a, g, tdbSNP:11466022
complement(504)-t, cdbSNP:199592764
complement(512)-t, cdbSNP:386441650
512+c, tdbSNP:11466023
complement(521)-g, adbSNP:374381476
complement(537)-t, cdbSNP:144998416
complement(538)-g, adbSNP:149941578
554+a, cdbSNP:104895188
complement(558)-g, adbSNP:139313647
complement(580)-g, adbSNP:146077729
586+c, tdbSNP:104895082
complement(623)-t, cdbSNP:371090652
630+a, gdbSNP:11466024
complement(646)-t, cdbSNP:139478779
652+c, tdbSNP:104895195
674+dbSNP:
674+a, gdbSNP:104895149
complement(686)-t, gdbSNP:192393953
complement(692)-g, adbSNP:141564727
725+c, g, tdbSNP:11466026
complement(747)-t, adbSNP:377706011
complement(751)-t, gdbSNP:143337771
complement(758)-g, adbSNP:147349325
777+dbSNP:
777+c, tdbSNP:104895151
complement(789)-t, cdbSNP:145637617
812+g, tdbSNP:104895173
820+a, cdbSNP:104895207
827+a, gdbSNP:104895104
829+a, gdbSNP:224208
835+a, gdbSNP:224207
839+c, tdbSNP:104895105
complement(840)-t, cdbSNP:374937035
844+c, gdbSNP:104895083
complement(865)-g, adbSNP:147767925
866+a, c, gdbSNP:104895100
complement(874)-t, cdbSNP:61732424
complement(891)-t, cdbSNP:150997933
908+c, g, tdbSNP:104895101
909+a, gdbSNP:104895196
910+c, tdbSNP:76464258
complement(911)-t, cdbSNP:140462252
complement(915)-g, cdbSNP:190705322
complement(920)-t, cdbSNP:150730718
923+a, gdbSNP:104895186
925+c, tdbSNP:104895099
complement(929)-g, cdbSNP:199937453
complement(935)-t, cdbSNP:200557537
937+c, tdbSNP:224206
complement(937)-g, adbSNP:386562298
complement(939)-g, adbSNP:144270019
945+c, tdbSNP:104895199
948+a, gdbSNP:104895168
complement(970)-g, adbSNP:377541032
1082+dbSNP:
1082+c, tdbSNP:104895113
complement(1084)-g, adbSNP:144672997
1136+dbSNP:
1136+a, tdbSNP:104895193
1151+a, cdbSNP:104895165
complement(1162)-c, adbSNP:11466043
complement(1162)-c, adbSNP:386518333
complement(1165)-g, adbSNP:202228332
1245+dbSNP:
1245+a, gdbSNP:11466044
complement(1279)-g, adbSNP:369003334
complement(1312)-t, adbSNP:1231123
1314+a, tdbSNP:104895169
1338+a, gdbSNP:79662406
complement(1346)-t, cdbSNP:1231122
complement(1352)-t, cdbSNP:139692347
1354+c, tdbSNP:11466045
complement(1354)-g, adbSNP:386518334
complement(1355)-c, adbSNP:141706767
1358+c, tdbSNP:104895161
complement(1359)-t, cdbSNP:375665850
complement(1361)-t, adbSNP:377657099
complement(1364)-t, cdbSNP:144122901
complement(1365)-t, cdbSNP:369069000
1366+c, tdbSNP:104895191
1377+dbSNP:
1377+a, gdbSNP:104895210
complement(1390)-t, cdbSNP:138462251
1400+c, tdbSNP:104895213
1409+c, gdbSNP:104895135
complement(1458)-g, adbSNP:377591832
complement(1471)-g, adbSNP:376579860
1476+a, gdbSNP:104895128
complement(1484)-t, cdbSNP:369107119
1492+a, gdbSNP:387907568
1502+c, gdbSNP:104895115
1503+a, tdbSNP:104895147
1519+c, tdbSNP:104895107
1520+a, gdbSNP:104895160
1528+c, tdbSNP:104895108
complement(1531)-t, g, cdbSNP:142748016
1538+a, cdbSNP:104895084
complement(1539)-g, adbSNP:375716505
1540+a, gdbSNP:104895085
1549+a, cdbSNP:104895086
1557+g, tdbSNP:104895212
1563+a, gdbSNP:104895120
1578+a, gdbSNP:387907566
1606+a, gdbSNP:104895087
1615+a, gdbSNP:104895088
1620+a, cdbSNP:104895089
1622+a, c, gdbSNP:28940580
1624+c, tdbSNP:104895090
1631+a, gdbSNP:104895092
complement(1637)-t, cdbSNP:375378545
1642+a, gdbSNP:387907570
1645+a, gdbSNP:104895122
1646+c, gdbSNP:104895098
1656..1658+, atadbSNP:121907890
1658..1660+, aatdbSNP:104895093
complement(1659)-g, adbSNP:28940577
1661+c, gdbSNP:104895215
1662+a, g, tdbSNP:61752717
1663..1665+, tgadbSNP:104895091
1667+c, gdbSNP:104895208
1685+a, gdbSNP:104895095
1687+c, gdbSNP:104895166
1691+c, tdbSNP:104895118
1692+a, gdbSNP:104895096
1695+c, tdbSNP:104895145
complement(1696)-g, adbSNP:200283928
complement(1699)-g, adbSNP:202174893
1700+a, gdbSNP:2234939
1704+c, tdbSNP:104895202
complement(1705)-t, cdbSNP:200375017
1708+g, tdbSNP:104895184
1731+a, c, tdbSNP:104895192
1742+c, gdbSNP:104895102
1745+c, tdbSNP:11466047
1746+a, gdbSNP:104895201
1751+c, tdbSNP:104895117
1759+c, tdbSNP:28940579
complement(1767)-t, cdbSNP:140434276
complement(1780)-t, cdbSNP:146720938
complement(1787)-t, cdbSNP:375450800
complement(1792)-t, c, adbSNP:139092123
complement(1807)-g, cdbSNP:199927442
1810+a, tdbSNP:104895216
1811+c, g, tdbSNP:104895152
complement(1812)-c, adbSNP:61732874
1828+c, gdbSNP:104895171
1841+a, gdbSNP:104895174
1845+a, gdbSNP:104895194
1854+c, tdbSNP:104895114
1864+a, gdbSNP:104895097
complement(1874)-c, adbSNP:142352887
complement(1878)-t, gdbSNP:148707371
1887+c, gdbSNP:387907565
1896+a, gdbSNP:104895163
complement(1906..1907)-, cdbSNP:35089876
1919+c, gdbSNP:104895153
1920+a, cdbSNP:104895154
complement(1934)-g, adbSNP:186588194
1937+c, tdbSNP:11466048
1940+c, tdbSNP:104895183
1949+c, gdbSNP:104895200
complement(1969)-t, adbSNP:370081377
1995+a, gdbSNP:11466049
2002+c, tdbSNP:11466050
complement(2002)-g, adbSNP:386518335
complement(2061)-t, cdbSNP:2075849
complement(2118)-g, cdbSNP:114930858
complement(2173)-t, cdbSNP:2741919
complement(2185)-t, cdbSNP:369931801
complement(2189)-g, cdbSNP:141757279
complement(2195)-t, cdbSNP:2741918
complement(2222)-t, cdbSNP:181939899
complement(2355)-g, adbSNP:190183188
complement(2377)-t, cdbSNP:113648768
complement(2379)-, adbSNP:76516421
complement(2394..2396)-, aaadbSNP:61379197
2402..2403+a, c, gdbSNP:397776611
complement(2402..2403)-tg, ccdbSNP:386787894
2402+c, gdbSNP:11466051
2403+a, gdbSNP:11466052
complement(2403)-tg, ccdbSNP:67530870
complement(2448)-t, cdbSNP:59312905
complement(2465)-t, cdbSNP:182968771
complement(2567)-t, cdbSNP:181380218
complement(2629)-t, cdbSNP:368896227
complement(2633)-g, cdbSNP:376514886
complement(2671..2672)-tg, cadbSNP:386787893
2671+c, tdbSNP:170387
2689+c, tdbSNP:281865551
complement(2690)-, adbSNP:60407399
complement(2707)-c, adbSNP:78525262
complement(2763..2764)-, agtdbSNP:141288030
complement(2764..2765)-, agtdbSNP:34895148
complement(2773)-g, adbSNP:371608683
2903+a, gdbSNP:11466054
complement(2957)-g, cdbSNP:142648477
complement(2984)-c, adbSNP:450021
Gene SymbolMEFV
Gene SynonymFMF; MEF; TRIM20
Chromosome16
Locus Map16p13.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000243 Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. On-demand $279.00 12-14
NM_001198536 Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. On-demand $219.00 7-9
XM_006720879 PREDICTED: Homo sapiens Mediterranean fever (MEFV), transcript variant X1, mRNA. On-demand $279.00 12-14
Title Three Japanese patients (mother and two children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern .
Author Fukushima Y, Obara K, Hirata H, Sugiyama K, Fukuda T and Takabe K.
Journal Asian Pac. J. Allergy Immunol. 31 (4), 325-329 (2013)
Title The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery .
Author Yilmaz S, Erdem H, Tunay S, Torun D, Genc H, Tunca Y, Karadag O, Simsek I, Bahce M, Pay S and Dinc A.
Journal Korean J. Intern. Med. 28 (5), 594-598 (2013)
Title MEFV gene mutations in Henoch-Schonlein purpura .
Author Altug U, Ensari C, Sayin DB and Ensari A.
Journal Int J Rheum Dis 16 (3), 347-351 (2013)
Title MEFV gene mutations and their clinical significance in Korean patients with adult-onset Still's disease .
Author Kim JJ, Kim JK, Shim SC, Choe JY, Kim TH, Jun JB and Yoo DH.
Journal Clin. Exp. Rheumatol. 31 (3 SUPPL 77), 60-63 (2013)
Title Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay .
Author Grandemange S, Soler S and Touitou I.
Journal Hum. Mol. Genet. 18 (24), 4746-4755 (2009)
Title A transcriptional Map of the FMF region .
Author Bernot A, Heilig R, Clepet C, Smaoui N, Da Silva C, Petit JL, Devaud C, Chiannilkulchai N, Fizames C, Samson D, Cruaud C, Caloustian C, Gyapay G, Delpech M and Weissenbach J.
Journal Genomics 50 (2), 147-160 (1998)
Title Familial Mediterranean fever: from the clinical syndrome to the cloning of the pyrin gene .
Author Pras,M.
Journal Scand. J. Rheumatol. 27 (2), 92-97 (1998)
Title Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3 .
Author Sood R, Blake T, Aksentijevich I, Wood G, Chen X, Gardner D, Shelton DA, Mangelsdorf M, Orsborn A, Pras E, Balow JE Jr, Centola M, Deng Z, Zaks N, Chen X, Richards N, Fischel-Ghodsian N, Rotter JI, Pras M, Shohat M, Deaven LL, Gumucio DL, Callen DF, Richards RI and Doggett NA.
Journal Genomics 42 (1), 83-95 (1997)
Title Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees .
Author Dupont M, Dross C, Smaoui N, Nedelec B, Grateau G, Clepet C, Gourdier I, Kone-Paut I, Delpech M, Demaille J and Touitou I.
Journal J. Med. Genet. 34 (5), 375-381 (1997)
Title Familial Mediterranean Fever .
Author Shohat,M. and Halpern,G.J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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