UniProtKB/SwissProt variant VAR

Pyruvate kinase PKLR
Gene: PKLR
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Variant information Variant position:

163
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Cysteine (C) at position 163 (R163C, p.Arg163Cys).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (C)
BLOSUM score:

-3
Variant description:

In CNSHA2; Linz.
Other resources:

Variant rs118204083 [ dbSNP | Ensembl ]

Sequence information Variant position:

163
Protein sequence length:

574
Location on the sequence:

GSPLSYRPVAIALDTKGPEI R TGILQGGPESEVELVKGSQV
Residue conservation:

Human                         GSPLSYRPVAIALDTKGPEIRTGILQGGPESEVELVKGSQV

                              TSPLGYRPVAIALDTKGPEIRTGVLKGGPETEVELVKGSWV

Mouse                         TSPLSYRPVAIALDTKGPEIRTGVLQGGPESEVEIVKGSQV

Rat                           TSPLSYRPVAIALDTKGPEIRTGVLQGGPESEVEIVKGSQV

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30613: Variant p.Arg163Cys