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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15553: Variant p.Gln440Glu

Pyrin
Gene: MEFV
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Variant information Variant position: help 440
Type of variant: help LB/B
Residue change: help From Glutamine (Q) to Glutamate (E) at position 440 (Q440E, p.Gln440Glu).
Physico-chemical properties: help Change from medium size and polar (Q) to medium size and acidic (E)
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 440
Protein sequence length: help 781
Location on the sequence: help KKKIQKQLEHLKKLRKSGEE Q RSYGEEKAVSFLKQTEALKQ
Residue conservation: help 
Human                         KKKIQKQLEHLKKLRKSGEEQRSYGEEKAVSFLKQTEALKQ

Mouse                         KEQIREQLERLREMRGYVEEHRLQGDKKTDDFLKQTEIQKQ

Rat                           KEQIRKQLERLREMRGYVEEHKLPADKKAEDFLKQTETQKQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 781 Pyrin
Region 420 – 582 Required for homotrimerization and induction of pyroptosomes
Coiled coil 413 – 442
Helix 414 – 519



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.