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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54840: Variant p.Ala339Pro

Glycogen [starch] synthase, liver
Gene: GYS2
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Variant information Variant position: help 339
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Proline (P) at position 339 (A339P, p.Ala339Pro).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (P)
BLOSUM score: help -1
Variant description: help In GSD0; loss of glycogen (starch) synthase activity.
Other resources: help


Sequence information Variant position: help 339
Protein sequence length: help 703
Location on the sequence: help DLEKTLFLFIAGRYEFSNKG A DIFLESLSRLNFLLRMHKSD
Residue conservation: help 
Human                         DLEKTLFLFIAGRYEFSNKGADIFLESLSRLNFLLRMHKSD

Mouse                         DLEKTLFLFIAGRYEFSNKGADIFLESLSRLNFLLRMHKSN

Rat                           DLEKTLFLFIAGRYEFSNKGADIFLESLSRLNFLLRMHKSN

Baker's yeast                 DLDNTLYFFIAGRYEYKNKGADMFIEALARLNYRLKVSGSK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 703 Glycogen [starch] synthase, liver
Binding site 331 – 331
Binding site 331 – 331



Literature citations
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
Orho M.; Bosshard N.U.; Buist N.R.M.; Gitzelmann R.; Aynsley-Green A.; Blumel P.; Gannon M.C.; Nuttall F.Q.; Groop L.C.;
J. Clin. Invest. 102:507-515(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; VARIANTS GSD0 SER-39; PRO-339; VAL-363; ASP-446; GLN-479; PRO-483 AND ARG-491; CHARACTERIZATION OF VARIANTS GSD0 SER-39; PRO-339; VAL-363; ASP-446; GLN-479; PRO-483 AND ARG-491;
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.