UniProtKB/Swiss-Prot P05156: Variant p.Gly188Ala

Complement factor I
Gene: CFI
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Variant information Variant position:

188 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Glycine (G) to Alanine (A) at position 188 (G188A, p.Gly188Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from glycine (G) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs769721080 [ dbSNP | Ensembl ]

Sequence information Variant position:

188 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:

RFKLSDLSINSTECLHVHCR G LETSLAECTFTKRRTMGYQD 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                         RFKLS-DLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQD

Mouse                         SFNISGNLHINDTECLHVHCRGVETSLAECAFTKRRTELSN

Rat                           RFNIPVNHKINSTECLHVRCQGVETSLAECTFTKKSSKAPH

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
Chain	19 – 583	Complement factor I
Chain	19 – 335	Complement factor I heavy chain
Domain	114 – 212	SRCR
Glycosylation	177 – 177	N-linked (GlcNAc...) asparagine
Disulfide bond	33 – 255
Disulfide bond	154 – 214
Disulfide bond	186 – 196

Literature citations
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 OF VARIANT ARMD13 ARG-119;

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.