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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35557: Variant p.Cys252Gly

Hexokinase-4
Gene: GCK
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Variant information Variant position: help 252
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Glycine (G) at position 252 (C252G, p.Cys252Gly).
Physico-chemical properties: help Change from medium size and polar (C) to glycine (G)
BLOSUM score: help -3
Variant description: help In MODY2.


Sequence information Variant position: help 252
Protein sequence length: help 465
Location on the sequence: help ACYMEEMQNVELVEGDEGRM C VNTEWGAFGDSGELDEFLLE
Residue conservation: help 
Human                         ACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLE

Mouse                         ACYMEEMQNVELVEGDEGRMCVNTEWGAFGNSGELDEFLLE

Rat                           ACYMEEMQNVELVEGDEGRMCVNTEWGAFGDSGELDEFLLE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 465 Hexokinase-4
Domain 10 – 454 Hexokinase
Region 204 – 443 Hexokinase large subdomain
Binding site 256 – 256
Mutagenesis 256 – 256 E -> A. Inactive enzyme with no glucokinase activity.
Beta strand 248 – 254



Literature citations
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Estalella I.; Rica I.; Perez de Nanclares G.; Bilbao J.R.; Vazquez J.A.; San Pedro J.I.; Busturia M.A.; Castano L.;
Clin. Endocrinol. (Oxf.) 67:538-546(2007)
Cited for: VARIANTS MODY2 GLU-16; ASN-19; PRO-20; TRP-36; SER-43; SER-44; 61-TYR--GLN-465 DEL; SER-61; LYS-70; ARG-72; PRO-77; GLU-78; ASP-80; ILE-82; HIS-108; PRO-116; LEU-182; 186-ARG--GLN-465 DEL; TYR-187; TRP-191; LEU-200; THR-202; MET-206; MET-209; SER-223; ARG-224; SER-227; MET-228; ARG-233; 234-TYR--GLN-465 DEL; GLY-252; ALA-255; LYS-256; ARG-261; LYS-265; LYS-298; TRP-308; HIS-377; VAL-379; LEU-383; 399-GLU--GLN-465 DEL; PHE-411; PRO-416; GLU-420 AND TRP-441;
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.