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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01024: Variant p.Lys155Gln

Complement C3
Gene: C3
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Variant information Variant position: help 155
Type of variant: help LP/P [Disclaimer]
Residue change: help From Lysine (K) to Glutamine (Q) at position 155 (K155Q, p.Lys155Gln).
Physico-chemical properties: help Change from large size and basic (K) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In ARMD9; results in resistance to proteolytic inactivation by CFH and CFI.
Other resources: help


Sequence information Variant position: help 155
Protein sequence length: help 1663
Location on the sequence: help DKTIYTPGSTVLYRIFTVNH K LLPVGRTVMVNIENPEGIPV
Residue conservation: help
Human                         DKTIYTPGSTVLYRIFTVNHKLLPVGRTVMVNIENPEGIPV

Mouse                         DKTIYTPGSTVLYRIFTVDNNLLPVGKTVVILIETPDGIPV

Rat                           DKTIYTPGSTVFYRIFTVDNNLLPVGKTVVIVIETPDGVPI

Pig                           DKTIYTPGSTVLYRIFTVDHKLLPVGQTIVVTIETPEGIDI

Bovine                        DKTIYTPGSTVLYRVFTVDHKLLPVGQTVFITIETPDGIPV

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 23 – 1663 Complement C3
Chain 23 – 667 Complement C3 beta chain



Literature citations
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;
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.