Variant position: 478 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 781 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LKQRVQRKLEQVYYFLEQQE HFFVASLEDVGQMVGQIRKAY
Mouse QKQKISCPLEKLYQLLEKQE QLFVTWLQELSQTISKVRETY
Rat QKQRISCPLEKLFQFLEQQE QLFVTWLQELVQTIGKVRETY
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 781 Pyrin
420 – 582 Required for homotrimerization and induction of pyroptosomes
470 – 488 Missing. No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 397-I--H-404 and 523-S--D-530.
414 – 519
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
Aldea A.; Campistol J.M.; Arostegui J.I.; Rius J.; Maso M.; Vives J.; Yaguee J.;
Am. J. Med. Genet. A 124:67-73(2004)
Cited for: VARIANT ADFMF TYR-478;
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