Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15553: Variant p.His478Tyr

Pyrin
Gene: MEFV
Feedback?
Variant information Variant position: help 478
Type of variant: help LP/P [Disclaimer]
Residue change: help From Histidine (H) to Tyrosine (Y) at position 478 (H478Y, p.His478Tyr).
Physico-chemical properties: help Change from medium size and polar (H) to large size and aromatic (Y)
BLOSUM score: help 2
Variant description: help In ADFMF; severe.
Other resources: help


Sequence information Variant position: help 478
Protein sequence length: help 781
Location on the sequence: help LKQRVQRKLEQVYYFLEQQE H FFVASLEDVGQMVGQIRKAY
Residue conservation: help
Human                         LKQRVQRKLEQVYYFLEQQEHFFVASLEDVGQMVGQIRKAY

Mouse                         QKQKISCPLEKLYQLLEKQEQLFVTWLQELSQTISKVRETY

Rat                           QKQRISCPLEKLFQFLEQQEQLFVTWLQELVQTIGKVRETY

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 781 Pyrin
Region 420 – 582 Required for homotrimerization and induction of pyroptosomes
Mutagenesis 470 – 488 Missing. No effect on GABARAP-binding. Loss of GABARAP-binding; when associated with 397-I--H-404 and 523-S--D-530.
Helix 414 – 519



Literature citations
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;
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.