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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35557: Variant p.Ser336Leu

Hexokinase-4
Gene: GCK
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Variant information Variant position: help 336
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Leucine (L) at position 336 (S336L, p.Ser336Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help In MODY2.


Sequence information Variant position: help 336
Protein sequence length: help 465
Location on the sequence: help FHGEASEQLRTRGAFETRFV S QVESDTGDRKQIYNILSTLG
Residue conservation: help 
Human                         FHGEASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLG

Mouse                         FHGEASEQLRTRGAFETRFVSQVESDSGDRRQILNILSTLG

Rat                           FHGEASEQLRTRGAFETRFVSQVESDSGDRKQIHNILSTLG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 465 Hexokinase-4
Domain 10 – 454 Hexokinase
Region 204 – 443 Hexokinase large subdomain
Binding site 332 – 336
Helix 332 – 339



Literature citations
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Velho G.; Blanche H.; Vaxillaire M.; Bellanne-Chantelot C.; Pardini V.C.; Timsit J.; Passa P.; Deschamps I.; Robert J.-J.; Weber I.T.; Marotta D.; Pilkis S.J.; Lipkind G.M.; Bell G.I.; Froguel P.;
Diabetologia 40:217-224(1997)
Cited for: VARIANTS MODY2 SER-53; ALA-80; ARG-137; PRO-168; 186-ARG--GLN-465 DEL; THR-210; ARG-213; MET-226; 248-GLU--GLN-465 DEL; ARG-261; LEU-336; 360-SER--GLN-465 DEL AND MET-367;
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.