[1]	NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS ARFMF ILE-680; VAL-694 AND ALA-726. TISSUE=Leukocyte; PubMed=9288758 [NCBI, ExPASy, EBI, Israel, Japan] Aksentijevich I., Centola M., Deng Z., Sood R., Balow J.E. Jr., Wood G., Zaks N., Mansfield E., Chen X., Eisenberg S., Vedula A., Shafran N., Raben N., Pras E., Pras M., Kastner D.L., Blake T., Baxevanis A.D., Robbins C., Krizman D., Collins F.S., Liu P.P., Chen X., Shohat M., Hamon M., Kahan T., Cercek A., Rotter J.I., Fischel-Ghodsian N., Richards N., Shelton D.A., Gumucio D., Yokoyama Y., Mangelsdorf M., Orsborn A., Richards R.I., Ricke D.O., Buckingham J.M., Moyzis R.K., Deaven L.L., Doggett N.A.; "Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever."; Cell 90:797-807(1997).
[2]	NUCLEOTIDE SEQUENCE (ISOFORM 2), TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION. TISSUE=Leukocyte; DOI=10.1093/hmg/9.20.3001; PubMed=11115844 [NCBI, ExPASy, EBI, Israel, Japan] Papin S., Duquesnoy P., Cazeneuve C., Pantel J., Coppey-Moisan M., Dargemont C., Amselem S.; "Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus."; Hum. Mol. Genet. 9:3001-3009(2000).
[3]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLN-202. TISSUE=Placenta; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[4]	NUCLEOTIDE SEQUENCE [MRNA] OF 305-754, AND VARIANTS ARFMF ILE-680 AND ILE-694. DOI=10.1038/ng0997-25; PubMed=9288094 [NCBI, ExPASy, EBI, Israel, Japan] Bernot A., Clepet C., Dasilva C., Devaud C., Petit J.-L., Caloustian C., Cruaud C., Samson D., Pulcini F., Weissenbach J., Heilig R., Notanicola C., Domingo C., Rozenbaum M., Benchetrit E., Topaloglu R., Dewalle M., Dross C., Hadjari P., Dupont M., Demaille J.G., Touitou I., Smaoui N., Nedelec B., Mery J.-P., Chaabouni H., Delpech M., Grateau G.; "A candidate gene for familial Mediterranean fever."; Nat. Genet. 17:25-31(1997).
[5]	NUCLEOTIDE SEQUENCE [MRNA] OF 96-303 AND 599-781, AND VARIANTS ARFMF LYS-230 AND HIS-653. TISSUE=Blood; DOI=10.1016/S0027-5107(01)00221-4; PubMed=11470495 [NCBI, ExPASy, EBI, Israel, Japan] Timmann C., Muntau B., Kuhne K., Gelhaus A., Horstmann R.D.; "Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease."; Mutat. Res. 479:235-239(2001).
[6]	FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND INDUCTION. PubMed=10807793 [NCBI, ExPASy, EBI, Israel, Japan] Centola M., Wood G., Frucht D.M., Galon J., Aringer M., Farrell C., Kingma D.W., Horwitz M.E., Mansfield E., Holland S.M., O'Shea J.J., Rosenberg H.F., Malech H.L., Kastner D.L.; "The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators."; Blood 95:3223-3231(2000).
[7]	SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY. PubMed=10666224 [NCBI, ExPASy, EBI, Israel, Japan] Tidow N., Chen X., Muller C., Kawano S., Gombart A.F., Fischel-Ghodsian N., Koeffler H.P.; "Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin."; Blood 95:1451-1455(2000).
[8]	FUNCTION, AND SUBCELLULAR LOCATION. DOI=10.1182/blood.V98.3.851; PubMed=11468188 [NCBI, ExPASy, EBI, Israel, Japan] Mansfield E., Chae J.J., Komarow H.D., Brotz T.M., Frucht D.M., Aksentijevich I., Kastner D.L.; "The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments."; Blood 98:851-859(2001).
[9]	INTERACTION WITH PSTPIP1. DOI=10.1073/pnas.2135380100; PubMed=14595024 [NCBI, ExPASy, EBI, Israel, Japan] Shoham N.G., Centola M., Mansfield E., Hull K.M., Wood G., Wise C.A., Kastner D.L.; "Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway."; Proc. Natl. Acad. Sci. U.S.A. 100:13501-13506(2003).
[10]	DISEASE. DOI=10.1002/art.10575; PubMed=12384939 [NCBI, ExPASy, EBI, Israel, Japan] Notarnicola C., Didelot M.-N., Kone-Paut I., Seguret F., Demaille J., Touitou I.; "Reduced MEFV messenger RNA expression in patients with familial Mediterranean fever."; Arthritis Rheum. 46:2785-2793(2002).
[11]	REVIEW ON ARFMF VARIANTS. DOI=10.1038/sj.ejhg.5200658; PubMed=11464238 [NCBI, ExPASy, EBI, Israel, Japan] Touitou I.; "The spectrum of familial mediterranean fever (FMF) mutations."; Eur. J. Hum. Genet. 9:473-483(2001).
[12]	VARIANTS ARFMF, AND VARIANT GLN-202. DOI=10.1093/hmg/7.8.1317; PubMed=9668175 [NCBI, ExPASy, EBI, Israel, Japan] Bernot A., da Silva C., Petit J.-L., Cruaud C., Caloustian C., Castet V., Ahmed-Arab M., Dross C., Dupont M., Cattan D., Smaoui N., Dode C., Pecheux C., Nedelec B., Medaxian J., Rozenbaum M., Rosner I., Delpech M., Grateau G., Demaille J., Weissenbach J., Touitou I.; "Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)."; Hum. Mol. Genet. 7:1317-1325(1998).
[13]	VARIANTS ARFMF ILE-680; ILE-681; ILE-694; VAL-694; MET-694 DEL AND ALA-726. DOI=10.1093/qjmed/91.9.603; PubMed=10024914 [NCBI, ExPASy, EBI, Israel, Japan] Booth D.R., Gillmore J.D., Booth S.E., Pepys M.B., Hawkins P.N.; "Pyrin/marenostrin mutations in familial Mediterranean fever."; QJM 91:603-606(1998).
[14]	VARIANTS ARFMF. DOI=10.1086/302327; PubMed=10090880 [NCBI, ExPASy, EBI, Israel, Japan] Aksentijevich I., Torosyan Y., Samuels J., Centola M., Pras E., Chae J.J., Oddoux C., Wood G., Azzaro M.P., Palumbo G., Giustolisi R., Pras M., Ostrer H., Kastner D.L.; "Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population."; Am. J. Hum. Genet. 64:949-962(1999).
[15]	VARIANTS ARFMF GLN-148; SER-369; GLN-408; LEU-479; ILE-680; VAL-694; ALA-726 AND HIS-761. DOI=10.1086/302459; PubMed=10364520 [NCBI, ExPASy, EBI, Israel, Japan] Cazeneuve C., Sarkisian T., Pecheux C., Dervichian M., Nedelec B., Reinert P., Ayvazyan A., Kouyoumdjian J.-C., Ajrapetyan H., Delpech M., Goossens M., Dode C., Grateau G., Amselem S.; "MEFV-Gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications."; Am. J. Hum. Genet. 65:88-97(1999).
[16]	VARIANTS ARFMF ILE-680; ILE-694; VAL-694 AND ALA-726. DOI=10.1038/sj.ejhg.5200303; PubMed=10234504 [NCBI, ExPASy, EBI, Israel, Japan] Shohat M., Magal N., Shohat T., Chen X., Dagan T., Mimouni A., Danon Y., Lotan R., Ogur G., Sirin A., Schlezinger M., Halpern G.J., Schwabe A., Kastner D., Rotter J.I., Fischel-Ghodsian N.; "Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis."; Eur. J. Hum. Genet. 7:287-292(1999).
[17]	VARIANTS ARFMF GLN-148; ILE-680; ILE-694; VAL-694; ARG-695; ALA-726 AND HIS-761. DOI=10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU29>3.0.CO;2-5; PubMed=10612841 [NCBI, ExPASy, EBI, Israel, Japan] Akar N., Misiroglu M., Yalcinkaya F., Akar E., Cakar N., Tumer N., Akcakus M., Tastan H., Matzner Y.; "MEFV mutations in Turkish patients suffering from familial Mediterranean fever."; Hum. Mutat. 15:118-119(2000).
[18]	VARIANT GLN-148. DOI=10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU22>3.3.CO;2-1; PubMed=10737995 [NCBI, ExPASy, EBI, Israel, Japan] Ben-Chetrit E., Lerer I., Malamud E., Domingo C., Abeliovich D.; "The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?"; Hum. Mutat. 15:385-386(2000).
[19]	VARIANTS ARFMF PRO-110; GLN-148 AND VAL-694. DOI=10.1038/sj.ejhg.5200462; PubMed=10854105 [NCBI, ExPASy, EBI, Israel, Japan] Domingo C., Touitou I., Bayou A., Ozen S., Notarnicola C., Dewalle M., Demaille J., Buades R., Sayadat C., Levy M., Ben-Chetrit E.; "Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity."; Eur. J. Hum. Genet. 8:242-246(2000).
[20]	VARIANTS ARFMF ASN-675 AND LEU-680. DOI=10.1002/(SICI)1096-8628(20000605)92:4<241::AID-AJMG3>3.3.CO;2-7; PubMed=10842288 [NCBI, ExPASy, EBI, Israel, Japan] Dode C., Pecheux C., Cazeneuve C., Cattan D., Dervichian M., Goossens M., Delpech M., Amselem S., Grateau G.; "Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever."; Am. J. Med. Genet. 92:241-246(2000).
[21]	VARIANTS ADFMF GLN-148; ILE-680; ILE-694; MET-694 DEL AND VAL-694. DOI=10.1093/qjmed/93.4.217; PubMed=10787449 [NCBI, ExPASy, EBI, Israel, Japan] Booth D.R., Gillmore J.D., Lachmann H.J., Booth S.E., Bybee A., Soytuerk M., Akar S., Pepys M.B., Tunca M., Hawkins P.N.; "The genetic basis of autosomal dominant familial Mediterranean fever."; QJM 93:217-221(2000).
[22]	VARIANT FMF ALA-138. DOI=10.1002/1098-1004(2001)17:1<71::AID-HUMU8>3.0.CO;2-3; PubMed=11139244 [NCBI, ExPASy, EBI, Israel, Japan] Akar E., Yalcinkaya F., Akar N.; "Is the Ala138Gly alteration of MEFV gene important for amyloidosis?"; Hum. Mutat. 17:71-71(2001).
[23]	VARIANT FMF THR-591. DOI=10.1002/humu.10103; PubMed=12124996 [NCBI, ExPASy, EBI, Israel, Japan] Aldea A., Casademont J., Arostegui J.I., Rius J., Maso M., Vives J., Yague J.; "I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?"; Hum. Mutat. 20:148-150(2002).
[24]	VARIANT ADFMF TYR-478. DOI=10.1002/ajmg.a.20296; PubMed=14679589 [NCBI, ExPASy, EBI, Israel, Japan] Aldea A., Campistol J.M., Arostegui J.I., Rius J., Maso M., Vives J., Yaguee J.; "A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?"; Am. J. Med. Genet. A 124:67-73(2004).
[25]	VARIANTS ARFMF ALA-163 AND LYS-319, AND VARIANT SER-744. DOI=10.1002/humu.9229; PubMed=15024744 [NCBI, ExPASy, EBI, Israel, Japan] Aldea A., Calafell F., Arostegui J.I., Lao O., Rius J., Plaza S., Maso M., Vives J., Buades J., Yaguee J.; "The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus."; Hum. Mutat. 23:399-399(2004).
[26]	VARIANTS ARFMF ARG-108; GLN-148; VAL-148; ASP-167; ILE-177; ILE-267; LYS-474; LEU-479; HIS-653; ILE-680; ILE-694; VAL-694; ARG-695; MET-720; ALA-726; SER-744 AND HIS-761. DOI=10.1016/j.ejmg.2005.05.010; PubMed=16378925 [NCBI, ExPASy, EBI, Israel, Japan] Medlej-Hashim M., Serre J.-L., Corbani S., Saab O., Jalkh N., Delague V., Chouery E., Salem N., Loiselet J., Lefranc G., Megarbane A.; "Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations."; Eur. J. Med. Genet. 48:412-420(2005).
[27]	VARIANTS ARFMF SER-632; MET-640; PHE-641; LEU-646; PRO-649; HIS-653; ALA-656; ASN-661; ASN-675; GLU-678; LEU-680; ILE-681; CYS-688; ILE-694; LEU-694; VAL-694; MET-695; ARG-695; ILE-704; SER-705; MET-720; ALA-726; LEU-743; SER-744; SER-758; HIS-761 AND THR-780, AND VARIANT CYS-702. DOI=10.1016/j.bbrc.2006.04.185; PubMed=16730661 [NCBI, ExPASy, EBI, Israel, Japan] Goulielmos G.N., Fragouli E., Aksentijevich I., Sidiropoulos P., Boumpas D.T., Eliopoulos E.; "Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF)."; Biochem. Biophys. Res. Commun. 345:1326-1332(2006).

Comments

FUNCTION: Probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton organization.
SUBUNIT: Interacts with PSTPIP1.
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton. Note=Associated with microtubules and with the filamentous actin of perinuclear filaments and peripheral lamellar ruffles.
SUBCELLULAR LOCATION: Isoform 2: Nucleus.

ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.

Name	1
Synonyms	FL
Isoform ID	O15553-2
This is the isoform sequence displayed in this entry.

Name	2
Synonyms	D2
Isoform ID	O15553-1
Features which should be applied to build the isoform sequence: VSP_008223.

TISSUE SPECIFICITY: Expressed in peripheral blood leukocytes, particularly in mature granulocytes and to a lesser extent in monocytes but not in lymphocytes. Detected in spleen, lung and muscle, probably as a result of leucocyte infiltration in these tissues. Not expressed in thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, liver, kidney, pancreas. Expression detected in several myeloid leukemic, colon cancer, and prostate cancer cell lines.
DEVELOPMENTAL STAGE: First detected in bone marrow promyelocytes. Expression increases throughout myelocyte differentiation and peaks in the mature myelomonocytic cells.
INDUCTION: In monocytes, by treatment with colchicine and IFN-alpha, and by the proinflammatory cytokines IFN-gamma, TNF-alpha and LPS. Repressed in monocytes by the antiinflammatory cytokines IL-10, TGF-beta and IL-4. In neutrophils, colchicine, TNF-alpha, LPS, IL-10, INF-alpha and IL-4 has no effect on expression. INF-gamma increases expression in neutrophils.
DISEASE: Defects in MEFV are the cause of familial Mediterranean fever autosomal recessive (ARFMF) [MIM:249100]. ARFMF is an inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. ARFMF is frequently complicated by amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ARFMF primarily affects ancestral ethnic groups living around the Mediterranean basin: North African Jews, Armenians, Arabs and Turks. The disease is also distributed in other populations including Greeks, Cypriots, Italians and Spanish, although at a lower prevalence.
DISEASE: Defects in MEFV are the cause of familial Mediterranean fever autosomal dominant (ADFMF) [MIM:134610]. ADFMF is characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with renal amyloidosis and characterized by colchicine unresponsiveness.
SIMILARITY: Contains 1 B box-type zinc finger.
SIMILARITY: Contains 1 B30.2/SPRY domain.
SIMILARITY: Contains 1 DAPIN domain.
WEB RESOURCE: Name=GeneDis; Note=Familial Mediterranean fever (FMF) Disease website; URL="http://www.tau.ac.il/lifesci/bioinfo/genedis/fmf/fmf.html";.
WEB RESOURCE: Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/disease_menu.php?n=1";.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=MEFV";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

AF018080; AAB70557.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC101511; AAI01512.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC101537; AAI01538.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
Y14441; CAA74793.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ003147; CAA05906.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF111163; AAD26152.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF301150; AAK97223.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF301151; AAK97224.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00007367; -.
IPI00375378; -.

RefSeq

NP_000234.1; -.

UniGene

Hs.632221

3D structure databases

ModBase

O15553.

PTM databases

PhosphoSite

O15553; -.

Organism-specific databases

GC16M003232; -.

HIX0038535; -.

HGNC:6998; MEFV.

134610; phenotype. [NCBI / EBI]
249100; phenotype. [NCBI / EBI]
608107; gene. [NCBI / EBI]

Orphanet

342; Familial mediterranean fever.

PharmGKB

PA30736; -.

Gene expression databases

O15553; -.

O15553; -.

HS_MEFV; -.

ENSG00000103313; Homo sapiens.

Ontologies

GO:0005737;	Cellular component: cytoplasm (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005874;	Cellular component: microtubule (inferred from electronic annotation from UniProtKB-KW).
GO:0005875;	Cellular component: microtubule associated complex (inferred from direct assay from UniProtKB).
GO:0005634;	Cellular component: nucleus (inferred from direct assay from UniProtKB).
GO:0003779;	Molecular function: actin binding (inferred from direct assay from UniProtKB).
GO:0008270;	Molecular function: zinc ion binding (non-traceable author statement from UniProtKB).
GO:0006954;	Biological process: inflammatory response (inferred from direct assay from UniProtKB).
QuickGo view.

Family and domain databases

InterPro

IPR001870; B302.
IPR003879; Butyrophylin.
IPR011029; DEATH-like.
IPR006574; PRY.
IPR004020; Pyrin.
IPR018355; SPla/RYanodine_receptor_sg.
IPR003877; SPRY_rcpt.
IPR000315; Znf_B-box.
Graphical view of domain structure.

Gene3D

G3DSA:1.10.533.10; DEATH_like; 1.

Pfam

PF02758; PAAD_DAPIN; 1.
PF00622; SPRY; 1.
PF00643; zf-B_box; 1.
Pfam graphical view of domain structure.

PRINTS

PR01407; BUTYPHLNCDUF.

SMART

SM00336; BBOX; 1.
SM00589; PRY; 1.
SM00449; SPRY; 1.
SMART graphical view of domain structure.

PROSITE

PS50188; B302_SPRY; 1.
PS50824; DAPIN; 1.
PS50119; ZF_BBOX; 1.
PROSITE graphical view of domain structure (profiles).

Proteomic databases

PRIDE

O15553; -.

Genome annotation databases

Ensembl

ENSG00000103313; Homo sapiens. [Contig view]

GeneID

4210; -.

KEGG

hsa:4210; -.

Phylogenomic databases

HOGENOM

O15553; -.

HOVERGEN

O15553; -.

OMA

O15553; VPYDFEK.

Other

DB01394; Colchicine.

16586; -.

MEFV; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Actin-binding; Alternative splicing; Amyloidosis; Cytoplasm; Cytoskeleton; Disease mutation; Inflammatory response; Metal-binding; Microtubule; Nucleus; Polymorphism; Zinc; Zinc-finger.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 781`	`781`	`Pyrin.`	`PRO_0000220364`
`DOMAIN`	`1 92`	`92`	`DAPIN.`
`DOMAIN`	`580 775`	`196`	`B30.2/SPRY.`
`ZN_FING`	`370 412`	`43`	`B box-type.`
`MOTIF`	`420 437`	`18`	`Nuclear localization signal (Potential).`
`VAR_SEQ`	`93 303`		`Missing (in isoform 2).`	`VSP_008223`
`VARIANT`	`33 33`	`1`	`V -> L (in dbSNP:rs11466016 [NCBI]).`	`VAR_048398`
`VARIANT`	`42 42`	`1`	`R -> W (in arFMF).`	`VAR_028326`
`VARIANT`	`108 108`	`1`	`S -> R (in arFMF).`	`VAR_028327`
`VARIANT`	`110 110`	`1`	`L -> P (in arFMF; dbSNP:rs11466018 [NCBI]).`	`VAR_016824`
`VARIANT`	`138 138`	`1`	`G -> A (association with renal amyloidosis).`	`VAR_016825`
`VARIANT`	`148 148`	`1`	`E -> Q (in arFMF and adFMF; common mutation; associated with S-369 and Q-408 in cis; associated with I-694 in some patients; dbSNP:rs3743930 [NCBI]).`	`VAR_009051`
`VARIANT`	`148 148`	`1`	`E -> V (in arFMF).`	`VAR_028328`
`VARIANT`	`163 163`	`1`	`E -> A (in arFMF).`	`VAR_028329`
`VARIANT`	`167 167`	`1`	`E -> D (in arFMF).`	`VAR_009052`
`VARIANT`	`177 177`	`1`	`T -> I (in arFMF).`	`VAR_028330`
`VARIANT`	`202 202`	`1`	`R -> Q (in dbSNP:rs224222 [NCBI]).`	`VAR_009053`
`VARIANT`	`230 230`	`1`	`E -> K (in arFMF).`	`VAR_016826`
`VARIANT`	`267 267`	`1`	`T -> I (in arFMF).`	`VAR_009054`
`VARIANT`	`319 319`	`1`	`E -> K (in arFMF).`	`VAR_028331`
`VARIANT`	`369 369`	`1`	`P -> S (in arFMF; reduced penetrance among Ashkenazi Jews; associated with Q-148 and Q-408 in cis; could be a polymorphism; dbSNP:rs11466023 [NCBI]).`	`VAR_009055`
`VARIANT`	`408 408`	`1`	`R -> Q (in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024 [NCBI]).`	`VAR_009056`
`VARIANT`	`440 440`	`1`	`Q -> E (in dbSNP:rs11466026 [NCBI]).`	`VAR_024376`
`VARIANT`	`474 474`	`1`	`E -> K (in arFMF).`	`VAR_028332`
`VARIANT`	`478 478`	`1`	`H -> Y (in adFMF; severe).`	`VAR_028333`
`VARIANT`	`479 479`	`1`	`F -> L (in arFMF).`	`VAR_009057`
`VARIANT`	`585 585`	`1`	`F -> L (in dbSNP:rs11466043 [NCBI]).`	`VAR_028334`
`VARIANT`	`591 591`	`1`	`I -> T (in arFMF; could be a polymorphism; dbSNP:rs11466045 [NCBI]).`	`VAR_016827`
`VARIANT`	`632 632`	`1`	`G -> S (in arFMF).`	`VAR_028335`
`VARIANT`	`640 640`	`1`	`I -> M (in arFMF).`	`VAR_028336`
`VARIANT`	`641 641`	`1`	`I -> F (in arFMF).`	`VAR_028337`
`VARIANT`	`646 646`	`1`	`P -> L (in arFMF).`	`VAR_028338`
`VARIANT`	`649 649`	`1`	`L -> P (in arFMF).`	`VAR_028339`
`VARIANT`	`653 653`	`1`	`R -> H (in arFMF).`	`VAR_016828`
`VARIANT`	`656 656`	`1`	`E -> A (in arFMF).`	`VAR_028340`
`VARIANT`	`661 661`	`1`	`D -> N (in arFMF).`	`VAR_028341`
`VARIANT`	`675 675`	`1`	`S -> N (in arFMF).`	`VAR_016829`
`VARIANT`	`678 678`	`1`	`G -> E (in arFMF).`	`VAR_028342`
`VARIANT`	`680 680`	`1`	`M -> I (in arFMF and adFMF; dbSNP:rs28940580 [NCBI]).`	`VAR_028343`
`VARIANT`	`680 680`	`1`	`M -> L (in arFMF).`	`VAR_016830`
`VARIANT`	`681 681`	`1`	`T -> I (in arFMF).`	`VAR_009059`
`VARIANT`	`688 688`	`1`	`Y -> C (in arFMF).`	`VAR_028344`
`VARIANT`	`692 692`	`1`	`Missing (in arFMF).`	`VAR_009060`
`VARIANT`	`694 694`	`1`	`M -> I (in arFMF and adFMF; associated with Q-148 in some patients; dbSNP:rs28940578 [NCBI]).`	`VAR_009061`
`VARIANT`	`694 694`	`1`	`M -> L (in arFMF).`	`VAR_028345`
`VARIANT`	`694 694`	`1`	`M -> V (in arFMF and adFMF; very common mutation particularly in North African Jews; can be associated with amyloidosis development).`	`VAR_009062`
`VARIANT`	`694 694`	`1`	`Missing (in arFMF and adFMF).`	`VAR_009063`
`VARIANT`	`695 695`	`1`	`K -> M (in arFMF).`	`VAR_028346`
`VARIANT`	`695 695`	`1`	`K -> R (in arFMF; reduced penetrance among Ashkenazi Jews).`	`VAR_009064`
`VARIANT`	`702 702`	`1`	`S -> C (in one patient with familial Mediterranean fever).`	`VAR_028347`
`VARIANT`	`704 704`	`1`	`V -> I (in arFMF).`	`VAR_028348`
`VARIANT`	`705 705`	`1`	`P -> S (in arFMF).`	`VAR_028349`
`VARIANT`	`720 720`	`1`	`I -> M (in arFMF).`	`VAR_028350`
`VARIANT`	`726 726`	`1`	`V -> A (in arFMF; common mutation; in Iraqi and Ashkenazi Jews, Druze, Armenians; dbSNP:rs28940579 [NCBI]).`	`VAR_009065`
`VARIANT`	`743 743`	`1`	`F -> L (in arFMF).`	`VAR_028351`
`VARIANT`	`744 744`	`1`	`A -> S (in arFMF; uncertain pathological significance).`	`VAR_009066`
`VARIANT`	`758 758`	`1`	`P -> S (in arFMF).`	`VAR_028352`
`VARIANT`	`761 761`	`1`	`R -> H (in arFMF).`	`VAR_009067`
`VARIANT`	`780 780`	`1`	`P -> T (in arFMF).`	`VAR_028353`

Sequence information

Length: 781 AA [This is the length of the unprocessed precursor]

Molecular weight: 86444 Da [This is the MW of the unprocessed precursor]

CRC64: 3692E5E6E9FC8204 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MAKTPSDHLL STLEELVPYD FEKFKFKLQN TSVQKEHSRI PRSQIQRARP VKMATLLVTY 

        70         80         90        100        110        120 
YGEEYAVQLT LQVLRAINQR LLAEELHRAA IQEYSTQENG TDDSAASSSL GENKPRSLKT 

       130        140        150        160        170        180 
PDHPEGNEGN GPRPYGGGAA SLRCSQPEAG RGLSRKPLSK RREKASEGLD AQGKPRTRSP 

       190        200        210        220        230        240 
ALPGGRSPGP CRALEGGQAE VRLRRNASSA GRLQGLAGGA PGQKECRPFE VYLPSGKMRP 

       250        260        270        280        290        300 
RSLEVTISTG EKAPANPEIL LTLEEKTAAN LDSATEPRAR PTPDGGASAD LKEGPGNPEH 

       310        320        330        340        350        360 
SVTGRPPDTA ASPRCHAQEG DPVDGTCVRD SCSFPEAVSG HPQASGSRSP GCPRCQDSHE 

       370        380        390        400        410        420 
RKSPGSLSPQ PLPQCKRHLK QVQLLFCEDH DEPICLICSL SQEHQGHRVR PIEEVALEHK 

       430        440        450        460        470        480 
KKIQKQLEHL KKLRKSGEEQ RSYGEEKAVS FLKQTEALKQ RVQRKLEQVY YFLEQQEHFF 

       490        500        510        520        530        540 
VASLEDVGQM VGQIRKAYDT RVSQDIALLD ALIGELEAKE CQSEWELLQD IGDILHRAKT 

       550        560        570        580        590        600 
VPVPEKWTTP QEIKQKIQLL HQKSEFVEKS TKYFSETLRS EMEMFNVPEL IGAQAHAVNV 

       610        620        630        640        650        660 
ILDAETAYPN LIFSDDLKSV RLGNKWERLP DGPQRFDSCI IVLGSPSFLS GRRYWEVEVG 

       670        680        690        700        710        720 
DKTAWILGAC KTSISRKGNM TLSPENGYWV VIMMKENEYQ ASSVPPTRLL IKEPPKRVGI 

       730        740        750        760        770        780 
FVDYRVGSIS FYNVTARSHI YTFASCSFSG PLQPIFSPGT RDGGKNTAPL TICPVGGQGP 


D

O15553 in FASTA format

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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools