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


RefSeq Accession Definition Services Price Order
NM_001198536 Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. ORF Sequence $388.02
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RefSeq Version NM_001198536.1, 309384275
Length 3049 bp
Structure linear
Update Date 17-APR-2013
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)530..643
Misc Feature(4)order(530..532,539..541,599..601,617..619)
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(26)-dbSNP:
complement(26)-g, cdbSNP:11466015
complement(28)-g, cdbSNP:200991336
complement(29)-g, cdbSNP:104895148
complement(45)-g, cdbSNP:200148051
complement(65)-t, cdbSNP: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:11466016
complement(156)-t, cdbSNP:141288548
complement(164)-g, adbSNP:61754767
complement(189)-g, adbSNP:144716190
complement(235)-t, cdbSNP:104895077
complement(238)-g, adbSNP:149380763
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
complement(305)-g, adbSNP:104895124
complement(317)-g, cdbSNP:138498376
complement(333)-dbSNP:
complement(333)-t, cdbSNP:104895155
complement(334)-t, cdbSNP:145872265
complement(339)-g, adbSNP:74346519
complement(348)-g, adbSNP:104895204
complement(349)-t, cdbSNP:224213
complement(355)-g, adbSNP:150252937
complement(356)-t, cdbSNP:200527263
complement(362)-g, adbSNP:104895110
complement(379)-g, adbSNP:140776637
complement(380)-t, cdbSNP:146862274
complement(390)-t, cdbSNP:104895203
complement(393)-g, adbSNP:104895112
complement(423)-t, cdbSNP:104895157
complement(441)-g, adbSNP:75446425
complement(445)-g, cdbSNP:141090517
complement(450)-g, adbSNP:104895198
complement(463)-t, cdbSNP:104895164
complement(467)-t, cdbSNP:104895116
complement(489)-g, cdbSNP:190405488
complement(496)-t, cdbSNP:104895170
complement(498)-t, cdbSNP:104895214
complement(499)-t, g, adbSNP:11466022
complement(504)-t, cdbSNP:199592764
complement(512)-t, cdbSNP:11466023
complement(537)-t, cdbSNP:144998416
complement(538)-g, adbSNP:149941578
complement(554)-c, adbSNP:104895188
complement(558)-g, adbSNP:139313647
complement(580)-g, adbSNP:146077729
complement(586)-t, cdbSNP:104895082
complement(630)-g, adbSNP:11466024
complement(646)-t, cdbSNP:139478779
complement(652)-t, cdbSNP:104895195
complement(674)-dbSNP:
complement(674)-g, adbSNP:104895149
complement(675)-c, adbSNP:150834041
complement(686)-t, gdbSNP:192393953
complement(692)-g, adbSNP:141564727
complement(725)-t, g, cdbSNP:11466026
complement(751)-t, gdbSNP:143337771
complement(758)-g, adbSNP:147349325
complement(777)-dbSNP:
complement(777)-t, cdbSNP:104895151
complement(789)-t, cdbSNP:145637617
complement(812)-t, gdbSNP:104895173
complement(820)-c, adbSNP:104895207
complement(827)-g, adbSNP:104895104
complement(829)-g, adbSNP:224208
complement(835)-g, adbSNP:224207
complement(839)-t, cdbSNP:104895105
complement(844)-g, cdbSNP:104895083
complement(850)-c, adbSNP:141260869
complement(865)-g, adbSNP:147767925
complement(866)-g, c, adbSNP:104895100
complement(874)-t, cdbSNP:61732424
complement(891)-t, cdbSNP:150997933
complement(908)-t, g, cdbSNP:104895101
complement(909)-g, adbSNP:104895196
complement(910)-t, cdbSNP:76464258
complement(911)-t, cdbSNP:140462252
complement(915)-g, cdbSNP:190705322
complement(920)-t, cdbSNP:150730718
complement(923)-g, adbSNP:104895186
complement(925)-t, cdbSNP:104895099
complement(929)-g, cdbSNP:199937453
complement(935)-t, cdbSNP:200557537
complement(937)-t, cdbSNP:224206
complement(939)-g, adbSNP:144270019
complement(945)-t, cdbSNP:104895199
complement(948)-g, adbSNP:104895168
complement(986)-t, gdbSNP:139642288
complement(1082)-dbSNP:
complement(1082)-t, cdbSNP:104895113
complement(1084)-g, adbSNP:144672997
complement(1136)-dbSNP:
complement(1136)-t, adbSNP:104895193
complement(1151)-c, adbSNP:104895165
complement(1162)-c, adbSNP:11466043
complement(1165)-g, adbSNP:202228332
complement(1245)-dbSNP:
complement(1245)-g, adbSNP:11466044
complement(1312)-t, adbSNP:1231123
complement(1314)-t, adbSNP:104895169
complement(1338)-g, adbSNP:79662406
complement(1346)-t, cdbSNP:1231122
complement(1352)-t, cdbSNP:139692347
complement(1354)-t, cdbSNP:11466045
complement(1355)-c, adbSNP:141706767
complement(1358)-t, cdbSNP:104895161
complement(1364)-t, cdbSNP:144122901
complement(1366)-t, cdbSNP:104895191
complement(1377)-dbSNP:
complement(1377)-g, adbSNP:104895210
complement(1390)-t, cdbSNP:138462251
complement(1400)-t, cdbSNP:104895213
complement(1409)-g, cdbSNP:104895135
complement(1476)-g, adbSNP:104895128
complement(1502)-g, cdbSNP:104895115
complement(1503)-t, adbSNP:104895147
complement(1519)-t, cdbSNP:104895107
complement(1520)-g, adbSNP:104895160
complement(1528)-t, cdbSNP:104895108
complement(1531)-g, cdbSNP:142748016
complement(1538)-c, adbSNP:104895084
complement(1540)-g, adbSNP:104895085
complement(1549)-c, adbSNP:104895086
complement(1557)-t, gdbSNP:104895212
complement(1563)-g, adbSNP:104895120
complement(1606)-g, adbSNP:104895087
complement(1615)-g, adbSNP:104895088
complement(1620)-c, adbSNP:104895089
1622+a, c, gdbSNP:28940580
complement(1624)-t, cdbSNP:104895090
complement(1631)-g, adbSNP:104895092
complement(1645)-g, adbSNP:104895122
complement(1646)-g, cdbSNP:104895098
complement(1656..1658)-, atadbSNP:121907890
complement(1658..1660)-, aatdbSNP:104895093
complement(1659)-g, adbSNP:28940577
complement(1661)-g, cdbSNP:104895215
complement(1662)-t, g, adbSNP:61752717
complement(1663..1665)-, tgadbSNP:104895091
1664+a, gdbSNP:28940578
complement(1666)-t, g, adbSNP:104895094
complement(1667)-g, cdbSNP:104895208
complement(1685)-g, adbSNP:104895095
complement(1687)-g, cdbSNP:104895166
complement(1691)-t, cdbSNP:104895118
complement(1692)-g, adbSNP:104895096
complement(1695)-t, cdbSNP:104895145
complement(1696)-g, adbSNP:200283928
complement(1699)-g, adbSNP:202174893
complement(1700)-g, adbSNP:2234939
complement(1704)-t, cdbSNP:104895202
complement(1705)-t, cdbSNP:200375017
complement(1708)-t, gdbSNP:104895184
complement(1731)-t, c, adbSNP:104895192
complement(1742)-g, cdbSNP:104895102
complement(1745)-t, cdbSNP:11466047
complement(1746)-g, adbSNP:104895201
complement(1751)-t, cdbSNP:104895117
complement(1759)-t, cdbSNP:28940579
complement(1767)-t, cdbSNP:140434276
complement(1780)-t, cdbSNP:146720938
complement(1792)-t, c, adbSNP:139092123
complement(1807)-g, cdbSNP:199927442
complement(1810)-t, adbSNP:104895216
complement(1811)-t, g, cdbSNP:104895152
complement(1812)-c, adbSNP:61732874
complement(1828)-g, cdbSNP:104895171
complement(1841)-g, adbSNP:104895174
complement(1845)-g, adbSNP:104895194
complement(1854)-t, cdbSNP:104895114
complement(1864)-g, adbSNP:104895097
complement(1874)-c, adbSNP:142352887
complement(1878)-t, gdbSNP:148707371
complement(1896)-g, adbSNP:104895163
complement(1908..1909)-, cdbSNP:35089876
complement(1919)-g, cdbSNP:104895153
complement(1920)-c, adbSNP:104895154
complement(1934)-g, adbSNP:186588194
complement(1937)-t, cdbSNP:11466048
complement(1940)-t, cdbSNP:104895183
complement(1949)-g, cdbSNP:104895200
complement(1995)-g, adbSNP:11466049
complement(2002)-t, cdbSNP:11466050
complement(2061)-t, cdbSNP:2075849
complement(2118)-g, cdbSNP:114930858
complement(2173)-t, cdbSNP:2741919
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(2394..2396)-, aaadbSNP:61379197
complement(2396)-, a, aaaadbSNP:76516421
complement(2397)-, cadbSNP:77117866
complement(2402)-g, cdbSNP:11466051
complement(2403)-tg, ccdbSNP:67530870
complement(2403)-g, adbSNP:11466052
complement(2448)-t, cdbSNP:59312905
complement(2465)-t, cdbSNP:182968771
complement(2567)-t, cdbSNP:181380218
complement(2671)-t, cdbSNP:170387
2689+c, tdbSNP:281865551
complement(2707)-c, adbSNP:78525262
complement(2707)-, adbSNP:60407399
complement(2763..2764)-, agtdbSNP:141288030
complement(2763..2764)-, agt, gtgdbSNP:3835347
complement(2764..2765)-, agtdbSNP:34895148
complement(2903)-g, adbSNP: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 Sequence Price Select
NM_000243 Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. Full Length $1227.45
ORF Sequence $680.34
NM_001198536 Homo sapiens Mediterranean fever (MEFV), transcript variant 2, mRNA. Full Length $1067.15
ORF Sequence $388.02
Title Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk .
Author Ebrahimi-Fakhari,D., Schonland,S.O., Hegenbart,U., Lohse,P., Beimler,J., Wahlster,L., Ho,A.D., Lorenz,H.M. and Blank,N.
Journal Scand. J. Rheumatol. 42 (1), 52-58 (2013)
Title Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey .
Author Yesilada,E., Taskapan,H. and Gulbay,G.
Journal Gene 511 (2), 371-374 (2012)
Title Incomplete response to colchicine in M694V homozygote FMF patients .
Author Lidar,M., Yonath,H., Shechter,N., Sikron,F., Sadetzki,S., Langevitz,P., Livneh,A. and Pras,E.
Journal Autoimmun Rev 12 (1), 72-76 (2012)
Title The frequency of MEFV gene mutation in patients admitted to hospital with preliminary diagnosis of familian mediterranean fever who undergone a prior appendectomy .
Author Yolbas,I., Ozen,F., Kocak,N., Kelekci,S., Gunes,A. and Yel,S.
Journal Eur Rev Med Pharmacol Sci 16 (7), 949-951 (2012)
Title Common Mediterranean fever (MEFV) gene mutations associated with ankylosing spondylitis in Turkish population .
Author Yigit,S., Inanir,A., Karakus,N., Kesici,E. and Bozkurt,N.
Journal Dis. Markers 33 (3), 113-118 (2012)
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,J.L., 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,D.A., Mangelsdorf,M., Orsborn,A., Pras,E., Balow,J.E. Jr., Centola,M., Deng,Z., Zaks,N., Chen,X., Richards,N., Fischel-Ghodsian,N., Rotter,J.I., Pras,M., Shohat,M., Deaven,L.L., Gumucio,D.L., Callen,D.F., Richards,R.I., Doggett,N.A. et al.
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)

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