Variant position: 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 583 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KFLNNGTCTAEGKFSVSLKH GNTDSEGIVEVKLVDQDKTMF
Mouse KFSHNGTCAAEGKFNVSLIY GRTKTEGLVQVKLVDQDERMF
Rat KFSNNGTCTAEEKFNVSLIY GSTDTEGIVQVKLVDQDEKMF
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
19 – 583 Complement factor I
19 – 335 Complement factor I heavy chain
114 – 212 SRCR
103 – 103 N-linked (GlcNAc...) (complex) asparagine
33 – 255
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;
A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
van de Ven J.P.; Nilsson S.C.; Tan P.L.; Buitendijk G.H.; Ristau T.; Mohlin F.C.; Nabuurs S.B.; Schoenmaker-Koller F.E.; Smailhodzic D.; Campochiaro P.A.; Zack D.J.; Duvvari M.R.; Bakker B.; Paun C.C.; Boon C.J.; Uitterlinden A.G.; Liakopoulos S.; Klevering B.J.; Fauser S.; Daha M.R.; Katsanis N.; Klaver C.C.; Blom A.M.; Hoyng C.B.; den Hollander A.I.;
Nat. Genet. 45:813-817(2013)
Cited for: VARIANT ARMD13 ARG-119; VARIANT ALA-188; CHARACTERIZATION VARIANT ARMD13 ARG-119;
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.