UniProtKB/Swiss-Prot P05156: Variant p.Thr300Ala

Complement factor I
Gene: CFI
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Variant information Variant position:

300 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 Threonine (T) to Alanine (A) at position 300 (T300A, p.Thr300Ala). 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 medium size and polar (T) 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 rs11098044 [ dbSNP | Ensembl ]

Sequence information Variant position:

300 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:

GEVDCITGEDEVGCAGFASV T QEETEILTADMDAERRRIKS 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                         GEVDCITGEDEVGCA-----------------GFASVTQEETEILTADMDAERRRIKS

Mouse                         GEVDCITGEDESRCEEDRQQNIPKGLARSAQ-GEAEIETEE

Rat                           GEVDCITGEDESGCEEDKKNKIHKGLARSDQGGETEIETEE

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
Binding site	281 – 281
Binding site	283 – 283
Binding site	289 – 289
Binding site	290 – 290

Literature citations
Characterization of primary amino acid sequence of human complement control protein factor I from an analysis of cDNA clones.
Catterall C.F.; Lyons A.; Sim R.M.; Day A.J.; Harris T.J.R.;
Biochem. J. 242:849-856(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ALA-300; Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4.
Goldberger G.; Bruns G.A.P.; Rits M.; Edge M.D.; Kwiatkowski D.J.;
J. Biol. Chem. 262:10065-10071(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ALA-300; An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
Bian Y.; Song C.; Cheng K.; Dong M.; Wang F.; Huang J.; Sun D.; Wang L.; Ye M.; Zou H.;
J. Proteomics 96:253-262(2014)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-300; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.