Variant position: 131 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:
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 GNVSFECEDGFILRGSPVRQ CRPNGMWDGETAVCDNGAGHC
Gorilla GNVSFECEDGFILRGSPVRQ CRPNGMWDGETAVCDNGAGHC
Chimpanzee GNVSFECEDGFILRGSPVRH CCPNGMWDGETAVCDNGAGHC
Mouse SNVSFECEQDFTLRGSPVRY CRPNGLWDGETAVCDNGASHC
Bovine GNLSFECEDGFTLRGSAVRQ CRPNGMWDGETAVCDNGASHC
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
21 – 752 Complement C2
21 – 243 Complement C2b fragment
87 – 146 Sushi 2
112 – 112 N-linked (GlcNAc...)
89 – 131
117 – 144
1 – 147 MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGSLLTYSCPQGLYPSPASRLCKSSGQWQTPGATRSLSKAVCKPVRCPAPVSFENGIYTPRLGSYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNG -> MRALCIRETCSSELGFSRNWSRRK. In isoform 2.
16 – 147 Missing. In isoform 3.
127 – 131
A novel type II complement C2 deficiency allele in an African-American family.
Zhu Z.B.; Atkinson T.P.; Volanakis J.E.;
J. Immunol. 161:578-584(1998)
Cited for: VARIANT C2D TYR-131;
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.