Variant position: 510 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 574 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 RAAVIAVTRSAQAARQVHLC RGVFPLLYREPPEAIWADDVD
Mouse RAAVIAVTRSAQAARQVHLS RGVFPLLYREPPEAVWADDVD
Rat RAAVIAVTRSAQAARQVHLS RGVFPLLYREPPEAIWADDVD
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
1 – 574 Pyruvate kinase PKLR
525 – 525 Fructose-1,6-bisphosphate; allosteric activator
Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.
Baronciani L.; Beutler E.;
Proc. Natl. Acad. Sci. U.S.A. 90:4324-4327(1993)
Cited for: VARIANTS PKRD ASP-134; PRO-155; HIS-359; TRP-486; VAL-495 AND GLN-510;
Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia.
Lenzner C.; Nuernberg P.; Thiele B.-J.; Reis A.; Brabec V.; Sakalova A.; Jacobasch G.;
Cited for: VARIANTS PKRD SER-332; SER-336; LYS-354 DEL; ASP-361; THR-392; HIS-498; GLN-510 AND TRP-532;
Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.
Pastore L.; della Morte R.; Frisso G.; Alfinito F.; Vitale D.; Calise R.M.; Ferraro F.; Zagari A.; Rotoli B.; Salvatore F.;
Hum. Mutat. 11:127-134(1998)
Cited for: VARIANTS PKRD SER-332; PRO-337; TRP-486; CYS-498 AND GLN-510;
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.