Variant position: 155 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 DKTIYTPGSTVLYRIFTVNH KLLPVGRTVMVNIENPEGIPV
Mouse DKTIYTPGSTVLYRIFTVDN NLLPVGKTVVILIETPDGIPV
Rat DKTIYTPGSTVFYRIFTVDN NLLPVGKTVVIVIETPDGVPI
Pig DKTIYTPGSTVLYRIFTVDH KLLPVGQTIVVTIETPEGIDI
Bovine DKTIYTPGSTVLYRVFTVDH KLLPVGQTVFITIETPDGIPV
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
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon J.M.; Yu Y.; Miller E.C.; Reynolds R.; Tan P.L.; Gowrisankar S.; Goldstein J.I.; Triebwasser M.; Anderson H.E.; Zerbib J.; Kavanagh D.; Souied E.; Katsanis N.; Daly M.J.; Atkinson J.P.; Raychaudhuri S.;
Nat. Genet. 45:1366-1370(2013)
Cited for: VARIANT ARMD9 GLN-155; CHARACTERIZATION OF VARIANT ARMD9 GLN-155;
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.