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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36871: Variant p.Leu516Pro

Phosphoglucomutase-1
Gene: PGM1
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Variant information Variant position: help 516
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 516 (L516P, p.Leu516Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In CDG1T; decreases strongly solubility.
Other resources: help


Sequence information Variant position: help 516
Protein sequence length: help 562
Location on the sequence: help DGSRIVFRLSGTGSAGATIR L YIDSYEKDVAKINQDPQVML
Residue conservation: help 
Human                         DGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVML

Mouse                         DGSRIIFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVML

Rat                           DGSRIIFRLSGTGSAGATIRLYIDSYEKDAAKINQDPQVML

Bovine                        DGSRIIFRLSGTGSAGATIRLYIDSYEKDLAKIYQDPQVML

Rabbit                        DGSRIIFRLSGTGSAGATIRLYIDSYEKDNAKINQDPQVML

Slime mold                    DGSRIIYRLSGTGSTGATVRVYFDKYETQPTQLNNDVQTHL

Baker's yeast                 NGTKFVLRLSGTGSSGATIRLYVEKYTDKKENYGQTADVFL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 562 Phosphoglucomutase-1
Modified residue 505 – 505 Phosphoserine
Modified residue 507 – 507 Phosphothreonine
Modified residue 509 – 509 Phosphoserine
Beta strand 512 – 522



Literature citations
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.