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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15553: Variant p.Phe743Leu

Pyrin
Gene: MEFV
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Variant information Variant position: help 743
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Leucine (L) at position 743 (F743L, p.Phe743Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Variant description: help In ARFMF.
Other resources: help


Sequence information Variant position: help 743
Protein sequence length: help 781
Location on the sequence: help DYRVGSISFYNVTARSHIYT F ASCSFSGPLQPIFSPGTRDG
Residue conservation: help 
Human                         DYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDG

Mouse                         ----DTPELHEIHSRNNKRKFKSFL---KWKPSFS------

Rat                           ----DTPELHEIHSQNNKRKFKSFL---KWKPSFS------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 781 Pyrin
Domain 580 – 775 B30.2/SPRY
Alternative sequence 587 – 781 VPELIGAQAHAVNVILDAETAYPNLIFSDDLKSVRLGNKWERLPDGPQRFDSCIIVLGSPSFLSGRRYWEVEVGDKTAWILGACKTSISRKGNMTLSPENGYWVVIMMKENEYQASSVPPTRLLIKEPPKRVGIFVDYRVGSISFYNVTARSHIYTFASCSFSGPLQPIFSPGTRDGGKNTAPLTICPVGGQGPD -> DHSPQHGLGSWEERDYTQHSMQGPKQGVPCLSLLSGQCNLAPLNANAQDFFPYLIFLRSSGADWRSGTCC. In isoform 3.
Beta strand 738 – 743



Literature citations
Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).
Goulielmos G.N.; Fragouli E.; Aksentijevich I.; Sidiropoulos P.; Boumpas D.T.; Eliopoulos E.;
Biochem. Biophys. Res. Commun. 345:1326-1332(2006)
Cited for: 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; VARIANT CYS-702;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.