UniProtKB/Swiss-Prot P06681: Variant p.Glu318Asp

Complement C2
Gene: C2
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Variant information Variant position:

318 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 Glutamate (E) to Aspartate (D) at position 318 (E318D, p.Glu318Asp). 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:

Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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
Variant description:

May be associated with a reduced risk for age-related macular degeneration. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs9332739 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FASEPKVLMSVLNDNSRDMT E VISSLENANYKDHENGTGTN 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                         FASEPKVLMSVLNDNSRDMTEVISSLENANYKDHENGTGTN

Gorilla                       FASKPKVLMSVLNDNSRDMTEVISSLENANYKDHENGTGTN

Chimpanzee                    FASEPRVLMSVLNDNSRDMTEVISSLENANYKDHENGTGTN

Mouse                         FASQPKTIMSILSERSQDVTEVITSLDSASYKDHENATGTN

Bovine                        FASKPKIIMSVLEDRSRDVTEVENSLRNINYKDHENGTGTN

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	21 – 752	Complement C2
Chain	244 – 752	Complement C2a fragment
Domain	254 – 452	VWFA
Binding site	337 – 337
Glycosylation	333 – 333	N-linked (GlcNAc...) asparagine
Alternative sequence	238 – 328	Missing. In isoform 2.
Helix	316 – 325

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASP-318 AND CYS-734; Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
Gold B.; Merriam J.E.; Zernant J.; Hancox L.S.; Taiber A.J.; Gehrs K.; Cramer K.; Neel J.; Bergeron J.; Barile G.R.; Smith R.T.; Hageman G.S.; Dean M.; Allikmets R.;
Nat. Genet. 38:458-462(2006)
Cited for: VARIANT ASP-318; INVOLVEMENT IN ARMD14;

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.