UniProtKB/SwissProt variant VAR

Variant information

Variant position:

323

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

US

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 Serine (S) to Isoleucine (I) at position 323 (S323I, p.Ser323Ile).

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 small size and polar (S) to medium size and hydrophobic (I)

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:

Found in a family with familial combined hyperlipemia; unknown pathological significance; associated with increased plasma triglyceride, plasma cholesterol, low-density lipoprotein cholesterol, apolipoprotein B and ASP.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs150599989 [ dbSNP | Ensembl ]

Sequence information

Variant position:

323

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

337

The length of the canonical sequence.

Location on the sequence:

LPAACHWALRESQGQDESVD S KKSTSHDLVSEMEV

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                         LPAACHWALRESQGQDESVDSKKS--TSHDLVSEMEV

Mouse                         LQAACHWALRDPQD-EESAVTKVSISTSHEMVSEM

Rat                           LQAACHWALRDLQDEEESAVTKVS--TSQEMVSEM

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	1 – 337	C5a anaphylatoxin chemotactic receptor 2
Topological domain	295 – 337	Cytoplasmic
Modified residue	320 – 320	Phosphoserine

Literature citations

C5a- and ASP-mediated C5L2 activation, endocytosis and recycling are lost in S323I-C5L2 mutation.
Cui W.; Simaan M.; Laporte S.; Lodge R.; Cianflone K.;
Mol. Immunol. 46:3086-3098(2009)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ILE-323;

Identification of a novel C5L2 variant (S323I) in a French Canadian family with familial combined hyperlipemia.
Marcil M.; Vu H.; Cui W.; Dastani Z.; Engert J.C.; Gaudet D.; Castro-Cabezas M.; Sniderman A.D.; Genest J. Jr.; Cianflone K.;
Arterioscler. Thromb. Vasc. Biol. 26:1619-1625(2006)
Cited for: VARIANT ILE-323;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9P296: Variant p.Ser323Ile