Familial Mediterranean fever
OMIM:249100Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | MEFV |
|---|---|
| Reference transcript | NM_000243.2 |
| DNA Change | c.2080A>G |
| A.A. Change | p.Met694Val |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Belmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. C R Biol. 2006 Feb;329(2):71-4. |
| Gene Symbol | MEFV |
|---|---|
| Reference transcript | NM_000243.2 |
| DNA Change | c.2082G>A |
| A.A. Change | p.Met694Ile |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Belmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. C R Biol. 2006 Feb;329(2):71-4. |
| Gene Symbol | MEFV |
|---|---|
| Reference transcript | NM_000243.2 |
| DNA Change | c.2040G>C |
| A.A. Change | p.Met680Leu |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Belmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. C R Biol. 2006 Feb;329(2):71-4. |
| Gene Symbol | MEFV |
|---|---|
| Reference transcript | NM_000243.2 |
| DNA Change | c.442G>C |
| A.A. Change | p.Glu148Gln |
| Exon/Intron | exon 2 |
| Mutation Type | substitution |
| Reference | Belmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. C R Biol. 2006 Feb;329(2):71-4. |
| Gene Symbol | MEFV |
|---|---|
| Reference transcript | NM_000243.2 |
| DNA Change | c.2230G>T |
| A.A. Change | p.Ala744Ser |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Belmahi L, Sefiani A, Fouveau C, Feingold J, Delpech M, Grateau G, Dode C.Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. C R Biol. 2006 Feb;329(2):71-4. |
| Gene Symbol | MEFV |
|---|---|
| Reference transcript | NM_000243.2 |
| DNA Change | c.2080_2082delATG |
| A.A. Change | p.Met694del |
| Exon/Intron | exon 10 |
| Mutation Type | deletion |
| Reference | Belmahi L, Cherkaoui IJ, Hama I, Sefiani A.MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever. Rheumatol Int. 2012 Apr;32(4):981-4. |
| Gene Symbol | MEFV |
|---|---|
| Reference transcript | NM_000243.2 |
| DNA Change | c.2074_2076delATA |
| A.A. Change | p.Ile692del |
| Exon/Intron | exon 10 |
| Mutation Type | deletion |
| Reference | Belmahi L, Cherkaoui IJ, Hama I, Sefiani A.MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever. Rheumatol Int. 2012 Apr;32(4):981-4. |
| Gene Symbol | MEFV |
|---|---|
| Reference transcript | NM_000243.2 |
| DNA Change | c.2282G>A |
| A.A. Change | p.Arg761His |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Belmahi L, Cherkaoui IJ, Hama I, Sefiani A.MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever. Rheumatol Int. 2012 Apr;32(4):981-4. |
| Gene Symbol | MEFV |
|---|---|
| Reference transcript | NM_000243.2 |
| DNA Change | c.2084A>G |
| A.A. Change | p.Lys695Arg |
| Exon/Intron | exon 10 |
| Mutation Type | substitution |
| Reference | Belmahi L, Cherkaoui IJ, Hama I, Sefiani A.MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever. Rheumatol Int. 2012 Apr;32(4):981-4. |