Variant position: 314 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:
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 EDGSGEVVLSRKVLLDGVQN PRAEDLVGKSLYVSATVILHS
Mouse EDGVGDAVLTRKVLMEGVRP SNADALVGKSLYVSVTVILHS
Rat EDGSGEAVLSRKVLMDGVRP SSPEALVGKSLYVSVTVILHS
Pig IDGTGEATLSQGVLLNGVHY SSVNDLVGKSIYVSVTVILNS
Bovine NDGNGEAILKRQVLLNGVQP SRADALVGKSIYVSATVILQS
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
23 – 1663 Complement C3
23 – 667 Complement C3 beta chain
297 – 297 Phosphoserine; by FAM20C
303 – 303 Phosphoserine; by FAM20C
Human complement component C3: cDNA coding sequence and derived primary structure.
de Bruijn M.H.L.; Fey G.H.;
Proc. Natl. Acad. Sci. U.S.A. 82:708-712(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LEU-314;
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-102; LEU-314; LYS-863; ASP-1224 AND THR-1367;
Molecular basis of polymorphisms of human complement component C3.
Botto M.; Yong Fong K.; So A.K.; Koch C.; Walport M.J.;
J. Exp. Med. 172:1011-1017(1990)
Cited for: VARIANTS GLY-102 AND LEU-314;
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.