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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05156: Variant p.Gly287Arg

Complement factor I
Gene: CFI
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Variant information Variant position: help 287
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 287 (G287R, p.Gly287Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In AHUS3.
Other resources: help


Sequence information Variant position: help 287
Protein sequence length: help 583
Location on the sequence: help KSGVCIPSQYQCNGEVDCIT G EDEVGCAGFASVTQEETEIL
Residue conservation: help
Human                         KSGVCIPSQYQCNGEVDCITGEDEVGCA-----------------GFASVTQEETEIL

Mouse                         KSGVCIPDQYKCNGEVDCITGEDESRCEEDRQQNIPKGLAR

Rat                           KSGVCIPNQRKCNGEVDCITGEDESGCEEDKKNKIHKGLAR

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 19 – 583 Complement factor I
Chain 19 – 335 Complement factor I heavy chain
Domain 258 – 294 LDL-receptor class A 2
Binding site 276 – 276
Binding site 279 – 279
Binding site 281 – 281
Binding site 283 – 283
Binding site 289 – 289
Binding site 290 – 290
Disulfide bond 278 – 293



Literature citations
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Maga T.K.; Nishimura C.J.; Weaver A.E.; Frees K.L.; Smith R.J.H.;
Hum. Mutat. 31:E1445-E1460(2010)
Cited for: VARIANTS AHUS3 LEU-64; ARG-119; ARG-183; ARG-287; LEU-416 AND THR-522;
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.