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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05156: Variant p.Asp524Val

Complement factor I
Gene: CFI
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Variant information Variant position: help 524
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Valine (V) at position 524 (D524V, p.Asp524Val).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In AHUS3.
Other resources: help


Sequence information Variant position: help 524
Protein sequence length: help 583
Location on the sequence: help YEKEMECAGTYDGSIDACKG D SGGPLVCMDANNVTYVWGVV
Residue conservation: help 
Human                         YEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVV

Mouse                         YEKEMQCAGTRDGSIDACKGDSGGPLVCEDINNVTYVWGIV

Rat                           YEKEMQCAGTSDGSIDACKGDSGGPLVCKDVNNVTYVWGIV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 19 – 583 Complement factor I
Chain 340 – 583 Complement factor I light chain
Domain 340 – 574 Peptidase S1
Active site 525 – 525 Charge relay system
Glycosylation 536 – 536 N-linked (GlcNAc...) asparagine
Disulfide bond 467 – 531
Disulfide bond 521 – 550



Literature citations
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.
Fremeaux-Bacchi V.; Dragon-Durey M.-A.; Blouin J.; Vigneau C.; Kuypers D.; Boudailliez B.; Loirat C.; Rondeau E.; Fridman W.H.;
J. Med. Genet. 41:E84-E84(2004)
Cited for: VARIANT AHUS3 VAL-524;
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.