Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30613: Variant p.Val460Met

Pyruvate kinase PKLR
Gene: PKLR
Feedback?
Variant information Variant position: help 460
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Methionine (M) at position 460 (V460M, p.Val460Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In CNSHA2.
Other resources: help


Sequence information Variant position: help 460
Protein sequence length: help 574
Location on the sequence: help ELRRAAPLSRDPTEVTAIGA V EAAFKCCAAAIIVLTTTGRS
Residue conservation: help 
Human                         ELRRAAPLSRDPTEVTAIGAVEAAFKCCAAAIIVLTTTGRS

                              ELRRAAPLSRDPTEVTAIGAVEAAFKCCAAAIIVLTKTGRS

Mouse                         ELRRAAPLSRDPTEVTAIGAVEASFKCCAAAIIVLTKTGRS

Rat                           ELRRAAPLSRDPTEVTAIGAVEASFKCCAAAIIVLTKTGRS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 574 Pyruvate kinase PKLR
Helix 451 – 466



Literature citations
Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.
Baronciani L.; Beutler E.;
J. Clin. Invest. 95:1702-1709(1995)
Cited for: VARIANTS CNSHA2 GLU-331; ALA-341; LYS-393; SER-393; ASP-458; MET-460 AND HIS-498;
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.