Gene Symbol: MEFV
OMIM: 608107Chromosome location: 16p13.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Familial Mediterranean fever |
|---|
| Dna Change: | c.2040G>C |
|---|
| Protein Change: | p.Met680Ile |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 10 |
|---|
| Transcript: | NM_000243.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Egypt | NA | NA | 29.4% (40/136) | NA | el-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8 |
| Lebanon | NA | NA | 5.72% | 23000 years ago | Jalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7 |
| Syria | NA | NA | 9.6% (allele frequency) | NA | Mattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6 |
| Tunisia | NA | NA | 32% (allele frequency) | NA | Chaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401 |
| Phenotype: | Familial Mediterranean fever |
|---|
| Dna Change: | c.2080A>G |
|---|
| Protein Change: | p.Met694Val |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 10 |
|---|
| Transcript: | NM_000243.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Egypt | NA | NA | 32.4% (44/136) | NA | el-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8 |
| Lebanon | NA | NA | 28.98% | 7000 years ago | Jalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7 |
| Syria | NA | NA | 45.8% (allele frequency) | NA | Mattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6 |
| Tunisia | NA | NA | 27% (allele frequency) | NA | Chaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401 |
| Phenotype: | Familial Mediterranean fever |
|---|
| Dna Change: | c.2082G>A |
|---|
| Protein Change: | p.Met694Ile |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 10 |
|---|
| Transcript: | NM_000243.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Egypt | NA | NA | 20.6% (28/136) | NA | el-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8 |
| Lebanon | NA | NA | 12.10% | 8500 years ago | Jalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7 |
| Lebanon | NA | NA | 20 patients/ 31 patients | NA | Medlej-Hashim M et al., 2011Medlej-Hashim M, Chouery E, Salem N, Delague V, Lefranc G, Loiselet J, Mégarbané A, . Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.. Eur J Med Genet. 2011; 54(1):50-4 |
| Syria | NA | NA | 4.8% (allele frequency) | NA | Mattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6 |
| Tunisia | NA | NA | 13% (allele frequency) | NA | Chaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401 |
| Phenotype: | Familial Mediterranean fever |
|---|
| Dna Change: | c.2177T>C |
|---|
| Protein Change: | p.Val726Ala |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 10 |
|---|
| Transcript: | NM_000243.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Egypt | NA | NA | 41.2% (56/136) | NA | el-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8 |
| Lebanon | NA | NA | 19.28% | 15000 years ago | Jalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7 |
| Syria | NA | NA | 13.9% (allele frequency) | NA | Mattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6 |
| Tunisia | NA | NA | 5% (allele frequency) | NA | Chaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401 |
| Phenotype: | Familial Mediterranean fever |
|---|
| Dna Change: | c.442G>C |
|---|
| Protein Change: | p.Glu148Gln |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Missense |
|---|
| Location: | exon 2 |
|---|
| Transcript: | NM_000243.2 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Egypt | NA | NA | 25% (34/136) | NA | el-Garf A et al., 2010el-Garf A, Salah S, Iskander I, Salah H, Amin SN, . MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.. Rheumatol. Int.. 2010; 30(10):1293-8 |
| Lebanon | NA | NA | 10.10% | 30000 years ago | Jalkh N et al., 2008Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, . Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.. Ann. Hum. Genet.. 2008; 72(0):41-7 |
| Syria | NA | NA | 6.0% (allele frequency) | NA | Mattit H et al., 2006Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, . Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.. Eur J Med Genet. 2006; 49(6):481-6 |
| Tunisia | NA | NA | 18% (allele frequency) | NA | Chaabouni HB et al., 2007Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, . MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.. Semin. Arthritis Rheum.. 2007; 36(6):397-401 |
References
Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N, MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.Semin. Arthritis Rheum.. 2007; 36(6):397-401
el-Garf A, Salah S, Iskander I, Salah H, Amin SN, MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.Rheumatol. Int.. 2010; 30(10):1293-8
Jalkh N, Génin E, Chouery E, Delague V, Medlej-Hashim M, Idrac CA, Mégarbané A, Serre JL, Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.Ann. Hum. Genet.. 2008; 72(0):41-7
Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A, Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.Eur J Med Genet. 2006; 49(6):481-6
Medlej-Hashim M, Chouery E, Salem N, Delague V, Lefranc G, Loiselet J, Mégarbané A, Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.Eur J Med Genet. 2011; 54(1):50-4