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UniProtKB/Swiss-Prot P01031: Variant p.Ile1033Thr

Complement C5
Gene: C5
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Variant information Variant position: help 1033
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Threonine (T) at position 1033 (I1033T, p.Ile1033Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to medium size and polar (T)
BLOSUM score: help -1
Polymorphism: help C5 variants are responsible for poor response to eculizumab [MIM:615749]. Eculizumab is a monoclonal antibody highly effective in reducing intravascular hemolysis in patients with paroxysmal nocturnal hemoglobinuria. It specifically binds to the terminal complement protein C5, inhibits its cleavage into C5a and C5b, and prevents the formations of the cytolytic complement pore (PubMed:24521109).
Other resources: help


Sequence information Variant position: help 1033
Protein sequence length: help 1676
Location on the sequence: help MSVVPVFYVFHYLETGNHWN I FHSDPLIEKQKLKKKLKEGM
Residue conservation: help 
Human                         MSVVPVFYVFHYLETGNHWNIFHSDPLIEKQKLKKKLKEGM

Mouse                         MSIAPVFYVFHYLEAGNHWNIFYPDTLSKRQSLEKKIKQGV

Rat                           MSIVPVFYVFHYLEAGNHWNIFHPDTLARKQSLQKKIKEGL

Pig                           -----------------------------------------

Bovine                        -----------------------------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 678 – 1676 Complement C5 alpha chain
Chain 752 – 1676 Complement C5 alpha' chain
Disulfide bond 866 – 1527
Helix 1031 – 1033



Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-145; GLY-449; ILE-802; GLN-928; VAL-933; THR-1033; ASN-1037; LYS-1043; ASN-1310 AND ASP-1437;
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.