UniProtKB/SwissProt variant VAR

Phosphoglucomutase-1
Gene: PGM1
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Variant information Variant position:

115
Type of variant:

LP/P [Disclaimer]
Residue change:

From Threonine (T) to Alanine (A) at position 115 (T115A, p.Thr115Ala).
Physico-chemical properties:

Change from medium size and polar (T) to small size and hydrophobic (A)
BLOSUM score:

0
Variant description:

In CDG1T; reduces mildly phosphoglucomutase activity.
Other resources:

Variant rs121918371 [ dbSNP | Ensembl ]

Sequence information Variant position:

115
Protein sequence length:

562
Location on the sequence:

STPAVSCIIRKIKAIGGIIL T ASHNPGGPNGDFGIKFNISN
Residue conservation:

Human                         STPAVSCIIRKIKAI---GGIILTASHNPGGPNGDFGIKFNISN

Mouse                         STPAVSCIIRKIKAI---GGIILTASHNPGGPNGDFGIKFN

Rat                           STPAVSCIIRKIKAI---GGIILTASHNPGGPNGDFGIKFN

Bovine                        STPAVSCIIRKIKAI---GGIILTASHNPGGPNGDFGIKFN

Rabbit                        STPAVSCIIRKIKAI---GGIILTASHNPGGPNGDFGIKFN

Slime mold                    STPAISAIVRARSAL---GAIILTASHNPGGPNGDFGIKYN

Baker's yeast                 STPAASHIIRTYEEKCTGGGIILTASHNPGGPENDLGIKYN

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 562	Phosphoglucomutase-1
Active site	117 – 117	Phosphoserine intermediate
Binding site	117 – 117
Binding site	117 – 117	via phosphate groupe
Modified residue	115 – 115	Phosphothreonine
Modified residue	117 – 117	Phosphoserine
Modified residue	134 – 134	Phosphoserine
Alternative sequence	1 – 197	Missing. In isoform 3.

Literature citations
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
Stojkovic T.; Vissing J.; Petit F.; Piraud M.; Orngreen M.C.; Andersen G.; Claeys K.G.; Wary C.; Hogrel J.Y.; Laforet P.;
N. Engl. J. Med. 361:425-427(2009)
Cited for: INVOLVEMENT IN CDG1T; VARIANT CDG1T ALA-115; Multiple phenotypes in phosphoglucomutase 1 deficiency.
Tegtmeyer L.C.; Rust S.; van Scherpenzeel M.; Ng B.G.; Losfeld M.E.; Timal S.; Raymond K.; He P.; Ichikawa M.; Veltman J.; Huijben K.; Shin Y.S.; Sharma V.; Adamowicz M.; Lammens M.; Reunert J.; Witten A.; Schrapers E.; Matthijs G.; Jaeken J.; Rymen D.; Stojkovic T.; Laforet P.; Petit F.; Aumaitre O.; Czarnowska E.; Piraud M.; Podskarbi T.; Stanley C.A.; Matalon R.; Burda P.; Seyyedi S.; Debus V.; Socha P.; Sykut-Cegielska J.; van Spronsen F.; de Meirleir L.; Vajro P.; DeClue T.; Ficicioglu C.; Wada Y.; Wevers R.A.; Vanderschaeghe D.; Callewaert N.; Fingerhut R.; van Schaftingen E.; Freeze H.H.; Morava E.; Lefeber D.J.; Marquardt T.;
N. Engl. J. Med. 370:533-542(2014)
Cited for: VARIANTS CDG1T ALA-19; TYR-38; ARG-41; HIS-62; ALA-115; ARG-121; TYR-263; GLY-263; ARG-291; ARG-330; LYS-377; LYS-388 AND PRO-516; Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.
Lee Y.; Stiers K.M.; Kain B.N.; Beamer L.J.;
J. Biol. Chem. 289:32010-32019(2014)
Cited for: CHARACTERIZATION OF VARIANTS CDG1T ALA-19; TYR-38; ARG-41; HIS-62; ALA-115; ARG-121; GLY-263; TYR-263; ARG-291; ARG-330; LYS-377; LYS-388 AND PRO-516; VARIANTS MET-68; CYS-221 AND HIS-420; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; ACTIVE SITE; PHOSPHORYLATION AT SER-117; ACTIVITY REGULATION;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36871: Variant p.Thr115Ala