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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35557: Variant p.Ala384Thr

Hexokinase-4
Gene: GCK
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Variant information Variant position: help 384
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Threonine (T) at position 384 (A384T, p.Ala384Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Variant description: help In MODY2.
Other resources: help


Sequence information Variant position: help 384
Protein sequence length: help 465
Location on the sequence: help CDIVRRACESVSTRAAHMCS A GLAGVINRMRESRSEDVMRI
Residue conservation: help 
Human                         CDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRI

Mouse                         CDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRI

Rat                           CDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 465 Hexokinase-4
Domain 10 – 454 Hexokinase
Region 204 – 443 Hexokinase large subdomain
Helix 361 – 396



Literature citations
Mutations in the glucokinase gene of the fetus result in reduced birth weight.
Hattersley A.T.; Beards F.; Ballantyne E.; Appleton M.; Harvey R.; Ellard S.;
Nat. Genet. 19:268-270(1998)
Cited for: VARIANTS MODY2 HIS-108; SER-150; THR-259; ARG-299; TYR-382; THR-384 AND CYS-392;
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.