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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30613: Variant p.Arg163Cys

Pyruvate kinase PKLR
Gene: PKLR
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Variant information Variant position: help 163
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 163 (R163C, p.Arg163Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In CNSHA2; Linz.
Other resources: help


Sequence information Variant position: help 163
Protein sequence length: help 574
Location on the sequence: help GSPLSYRPVAIALDTKGPEI R TGILQGGPESEVELVKGSQV
Residue conservation: help
Human                         GSPLSYRPVAIALDTKGPEIRTGILQGGPESEVELVKGSQV

                              TSPLGYRPVAIALDTKGPEIRTGVLKGGPETEVELVKGSWV

Mouse                         TSPLSYRPVAIALDTKGPEIRTGVLQGGPESEVEIVKGSQV

Rat                           TSPLSYRPVAIALDTKGPEIRTGVLQGGPESEVEIVKGSQV

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 574 Pyruvate kinase PKLR
Binding site 156 – 156
Binding site 157 – 157
Binding site 163 – 163
Beta strand 162 – 164



Literature citations
Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.
Neubauer B.; Lakomek M.; Winkler H.; Parke M.; Hofferbert S.; Schroter W.;
Blood 77:1871-1875(1991)
Cited for: VARIANTS CNSHA2 CYS-163 AND MET-384;
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.