The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Sep. 30, 2003
Filed:
Aug. 07, 2000
Daniel L. Kastner, Bethesda, MD (US);
Ivona Aksentijevichh, Bethesda, MD (US);
Michael Centola, Tacoma Park, MD (US);
Zuoming Deng, Gaithersburg, MD (US);
Ramen Sood, Rockville, MD (US);
Francis S. Collins, Rockville, MD (US);
Trevor Blake, Laytonsville, MD (US);
P. Paul Liu, Ellicott City, MD (US);
Nathan Fischel-Ghodsian, Los Angeles, CA (US);
Deborah L. Gumucio, Ann Arbor, MI (US);
Robert I. Richards, North Adelaide, AU;
Darrell O. Ricke, San Diego, CA (US);
Norman A. Doggett, Santa Cruz, NM (US);
Mordechai Pras, Tel-Hashomer, IL;
Other;
Abstract
The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as well as the corresponding sequence for the RNA transcript and fragments thereof. Another aspect of the invention provides the amino acid sequence for a protein (pyrin) associated with FMF. The invention is directed towards both the full length amino acid sequence, fusion proteins containing the amino acid sequence and fragments thereof. The invention is also directed towards mutants of the nucleic acid and amino acid sequences associated with FMF. In particular, the invention discloses three missense mutations, clustered in within about 40 to 50 amino acids, in the highly conserved rfp (B30.2) domain at the C-terminal of the protein. These mutants include M6801, M694V, K695R, and V726A. Additionally, the invention includes methods for diagnosing a patient at risk for having FMF and kits therefor.