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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35557: Variant p.Lys169Arg

Hexokinase-4
Gene: GCK
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Variant information Variant position: help 169
Type of variant: help LP/P [Disclaimer]
Residue change: help From Lysine (K) to Arginine (R) at position 169 (K169R, p.Lys169Arg).
Physico-chemical properties: help Similar physico-chemical property. Both residues are large size and basic.
BLOSUM score: help 2
Variant description: help In PNDM1.


Sequence information Variant position: help 169
Protein sequence length: help 465
Location on the sequence: help TFSFPVRHEDIDKGILLNWT K GFKASGAEGNNVVGLLRDAI
Residue conservation: help 
Human                         TFSFPVRHEDIDKGILLNWTKGFKASGAEGNNVVGLLRDAI

Mouse                         TFSFPVRHEDIDKGILLNWTKGFKASGAEGNNIVGLLRDAI

Rat                           TFSFPVRHEDLDKGILLNWTKGFKASGAEGNNIVGLLRDAI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 465 Hexokinase-4
Domain 10 – 454 Hexokinase
Region 67 – 203 Hexokinase small subdomain
Binding site 168 – 169
Mutagenesis 177 – 177 E -> K. Small change in glucokinase activity.



Literature citations
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Raimondo A.; Chakera A.J.; Thomsen S.K.; Colclough K.; Barrett A.; De Franco E.; Chatelas A.; Demirbilek H.; Akcay T.; Alawneh H.; Flanagan S.E.; Van De Bunt M.; Hattersley A.T.; Gloyn A.L.; Ellard S.;
Hum. Mol. Genet. 23:6432-6440(2014)
Cited for: VARIANTS PNDM1 LYS-40; CYS-43; ASP-50; ARG-72; THR-151; PRO-164; ALA-168; ARG-169; ARG-261; THR-393; LEU-397; LEU-441 AND THR-449; CHARACTERIZATION OF VARIANTS PNDM1 LYS-40; CYS-43; ASP-50; ARG-72; ALA-168; ARG-261; THR-393; LEU-397; LEU-441 AND THR-449; VARIANTS MODY2 ASN-160 AND MET-226; CHARACTERIZATION OF VARIANT MODY2 ASN-160 AND MET-226; FUNCTION; CATALYTIC ACTIVITY;
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.