rs3743930 C>G

M694I
E148Q
NC_000016.10:g.3254626C>G
NC_000016.9:g.3304626C>G
NG_007871.1:g.7002G>C
NM_000243.3:c.442G>C
NM_000243.2:c.442G>C
NP_000234.1:p.Glu148Gln
NM_000243.2(MEFV):c.[442G>C;2082G>A]
NG_007871.1:g.18223G>A
NM_001198536.2:c.*286G>A
LRG_190p1:p.Met694Ile
LRG_190t1:c.442G>C
LRG_190:g.18223G>A
NM_001198536.2:c.277+1685G>C
LRG_190:g.7002G>C
NP_000234.1:p.Met694Ile
NC_000016.10:g.3243405C>T
LRG_190t1:c.2082G>A
O15553:p.Met694Ile
NM_000243.3:c.2082G>A
O15553:p.Glu148Gln
NC_000016.9:g.3293405C>T
LRG_190p1:p.Glu148Gln
AGATCA Генератор публикаций
Автор
06:40,
26 сентября 2019 г.
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Клиническая значимость
Требует внимания
(патогенная в ClinVar)

Краткое описание

Мутация rs3743930 C>G расположена в гене MEFV и представляет собой null "C" на "G" в позиции 3,254,626 в хромосоме 16.

Для заболевания "Аутосомно-доминантная семейная средиземноморская лихорадка" данная мутация представляет собой опасность, является патогенной.

Мутация упоминается в статье ресурса SNPedia: "Семейная средиземноморская лихорадка".

Частота встречаемости в мире 3 на 100 человек (по данным проекта TOPMED). Данных о частоте встречаемости в России не найдено. В англоязычной литературе существует не менее 30 публикаций об этой мутации.

Связанные болезни и признаки
требует внимания
(патогенная в clinvar)
Clinvar
SNPedia
Международные публикации в PubMed

1. Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever.

Solak M, Yildiz H, Koken R, Erdogan M, Eser B, Sen T, Evirgen N, Erdem S, Arikan E
Genet Test 2008 Sep

2. Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.

Zaks N, Shinar Y, Padeh S, Lidar M, Mor A, Tokov I, Pras M, Langevitz P, Pras E, Livneh A
Isr Med Assoc J 2003 Aug

4. Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case-control study.

Coşkun S, Varol S, Özdemir HH, Çelik SB, Balduz M, Camkurt MA, Çim A, Arslan D, Çevik MU
Neuropsychiatr Dis Treat 2016

6. Dominant inheritance in two families with familial Mediterranean fever (FMF).

Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M
Am J Med Genet 1995 Jul 3

8. Familial Mediterranean Fever

Shohat M, Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A
1993

9. Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method.

Medlej-Hashim M, Salem N, Chouery E, Rawashdeh M, Delague V, Haffar M, Mansour I, Naman R, Lefranc G, Loiselet J, Mégarbané A
Clin Genet 2002 Jan

10. Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

De Pieri C, Vuch J, De Martino E, Bianco AM, Ronfani L, Athanasakis E, Bortot B, Crovella S, Taddio A, Severini GM, Tommasini A
Pediatr Rheumatol Online J 2015

11. Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.

Villani AC, Lemire M, Louis E, Silverberg MS, Collette C, Fortin G, Nimmo ER, Renaud Y, Brunet S, Libioulle C, Belaiche J, Bitton A, Gaudet D, Cohen A, Langelier D, Rioux JD, Arnott ID, Wild GE, Rutgeerts P, Satsangi J, Vermeire S, Hudson TJ, Franchimont D
PLoS One 2009 Sep 28

12. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups.

Stoffman N, Magal N, Shohat T, Lotan R, Koman S, Oron A, Danon Y, Halpern GJ, Lifshitz Y, Shohat M
Eur J Hum Genet 2000 Apr

13. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever.

Tchernitchko DO, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S
Ann Rheum Dis 2006 Sep

14. Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study.

Rama M, Mura T, Kone-Paut I, Boursier G, Aouinti S, Touitou I, Sarrabay G
Clin Exp Immunol 2021 Jan

15. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.

Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, Grateau G, Amselem S
Arthritis Rheum 2005 Nov

16. MEFV mutation analysis of familial Mediterranean fever in Japan.

Tomiyama N, Higashiuesato Y, Oda T, Baba E, Harada M, Azuma M, Yamashita T, Uehara K, Miyazato A, Hatta K, Ohya Y, Iseki K, Jinno Y, Takishita S
Clin Exp Rheumatol 2008 Jan-Feb

17. MEFV mutations in Behçet's disease.

Touitou I, Magne X, Molinari N, Navarro A, Quellec AL, Picco P, Seri M, Ozen S, Bakkaloglu A, Karaduman A, Garnier JM, Demaille J, Koné-Paut I
Hum Mutat 2000 Sep

18. Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

Feng J, Zhang Z, Li W, Shen X, Song W, Yang C, Chang F, Longmate J, Marek C, St Amand RP, Krontiris TG, Shively JE, Sommer SS
PLoS One 2009 Dec 30

19. 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.

Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL
Am J Hum Genet 1999 Apr

20. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.

Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M
Eur J Hum Genet 2001 Jul

21. Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study.

Koga T, Sato S, Mishima H, Migita K, Endo Y, Umeda M, Sumiyoshi R, Nonaka F, Fukui S, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura KI, Eguchi K, Kawakami A
Clin Exp Rheumatol 2020 Sep-Oct

22. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dodé C, Pêcheux C, Nédelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I
Hum Mol Genet 1998 Aug

24. Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study.

Bindoli S, Franceschet G, Galozzi P, Zaninotto M, Camozzi V, Sfriso P
Front Endocrinol (Lausanne) 2019

25. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee
Genet Med 2015 May

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