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:
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 LPAACHWALRESQGQDESVD SKKS--TSHDLVSEMEV
Mouse LQAACHWALRDPQD-EESAV TKVSISTSHEMVSEM
Rat LQAACHWALRDLQDEEESAV TKVS--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
1 – 337 C5a anaphylatoxin chemotactic receptor 2
295 – 337 Cytoplasmic
320 – 320 Phosphoserine
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;
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.