UniProtKB/Swiss-Prot P01024: Variant p.Gly1224Asp

Complement C3
Gene: C3
Feedback?

Variant information Variant position:

1224 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 Aspartate (D) at position 1224 (G1224D, p.Gly1224Asp). 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 medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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
Polymorphism:

There are two alleles: C3S (C3 slow), the most common allele in all races and C3F (C3 fast), relatively frequent in Caucasians, less common in Black Americans, extremely rare in Orientals. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs11569534 [ dbSNP | Ensembl ]

Sequence information Variant position:

1224 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1663 The length of the canonical sequence.
Location on the sequence:

GPLLNKFLTTAKDKNRWEDP G KQLYNVEATSYALLALLQLK 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                         GPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLK

Mouse                         EPYLGKFLNTAKDRNRWEEPDQQLYNVEATSYALLALLLLK

Rat                           EPYLTKFLNTAKDRNRWEEPGQQLYNVEATSYALLALLLLK

Pig                           EPFLNKLLSTAKERNRWEEPGQKLHNVEATSYALLALLVVK

Bovine                        GDRLTKFLNTAKEKNRWEEPNQKLYNVEATSYALLALLARK

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	23 – 1663	Complement C3
Chain	672 – 1663	Complement C3 alpha chain
Chain	749 – 1663	Complement C3b alpha' chain
Chain	955 – 1303	Complement C3dg fragment
Chain	1002 – 1303	Complement C3d fragment
Disulfide bond	873 – 1513
Beta strand	1223 – 1225

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-102; LEU-314; LYS-863; ASP-1224 AND THR-1367;

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.