UniProtKB/SwissProt variant VAR

Complement factor I
Gene: CFI
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Variant information Variant position:

287
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 287 (G287R, p.Gly287Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In AHUS3.
Other resources:

Variant rs182078921 [ dbSNP | Ensembl ]

Sequence information Variant position:

287
Protein sequence length:

583
Location on the sequence:

KSGVCIPSQYQCNGEVDCIT G EDEVGCAGFASVTQEETEIL
Residue conservation:

Human                         KSGVCIPSQYQCNGEVDCITGEDEVGCA-----------------GFASVTQEETEIL

Mouse                         KSGVCIPDQYKCNGEVDCITGEDESRCEEDRQQNIPKGLAR

Rat                           KSGVCIPNQRKCNGEVDCITGEDESGCEEDKKNKIHKGLAR

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05156: Variant p.Gly287Arg