Sequence information
Variant position: 427 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 559 The length of the canonical sequence.
Location on the sequence:
KRGEGRAVNITSENLIDDVV
S LIRGGTRKYAFELKEKLLRG
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 KRGEGRAVNITSENLIDDVVS LIRGGTRKYAFELKEKLLRG
Mouse KTDNGKTVNITRDNIIDDVIS FIRGGTREQAILLKEKILRG
Rat KTGDGKVVNISRDHIIDDVIS FIRGGTRKQAVLLKEKLLRG
Bovine KKGMGQTETNPEADLFDDVIT FIRGGTRKYATELKEKLLRG
Rabbit KSGHGNAVNITRANLIDDVIS LIRGGTQKFAFELKEKLLTK
Horse KRNEKEIVNIMDGSLIDDVIS LIRGGTRKYAFELKEKLLKG
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
22 – 559
Complement component C9
Chain
266 – 559
Complement component C9b
Domain
138 – 509
MACPF
Glycosylation
415 – 415
N-linked (GlcNAc...) (complex) asparagine
Mutagenesis
426 – 426
V -> C. Creates an artifactual disulfide bond that prevents the conformation change required for oligomerization and pore formation; when associated with C-283.
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.