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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23378: Variant p.Gly768Glu

Glycine dehydrogenase (decarboxylating), mitochondrial
Gene: GLDC
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Variant information Variant position: help 768
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Glutamate (E) at position 768 (G768E, p.Gly768Glu).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (E)
BLOSUM score: help -2
Variant description: help In NKH; loss of GCS P-protein glycine exchange activity; no effect on abundance.


Sequence information Variant position: help 768
Protein sequence length: help 1020
Location on the sequence: help SHLNLHKTFCIPHGGGGPGM G PIGVKKHLAPFLPNHPVISL
Residue conservation: help 
Human                         SHLNLHKTFCIPHGGGGPGMGPIGVKKHLAPFLPNHPVIS-L

Mouse                         SHLNLHKTFCIPHGGGGPGMGPIGVKKHLSPFLPSHPVIS-

Chicken                       SHLNLHKTFCIPHGGGGPGMGPIGVKKHLAPYLPTHPVIK-

Slime mold                    CHLNLHKTFCIPHGGGGPGMGPICVKSHLAPFLPGHSVVK-

Baker's yeast                 CHLNLHKTFSIPHGGGGPAGAPICVKSHLIPHLPKHDVVDM

Fission yeast                 CHLNLHKTFCIPHGGGGPGVGPICVKKHLADFLPSHPVVS-
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 36 – 1020 Glycine dehydrogenase (decarboxylating), mitochondrial
Modified residue 754 – 754 N6-(pyridoxal phosphate)lysine



Literature citations
Nonketotic Hyperglycinemia: functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Bravo-Alonso I.; Navarrete R.; Arribas-Carreira L.; Perona A.; Abia D.; Couce M.L.; Garcia-Cazorla A.; Morais A.; Domingo R.; Ramos M.A.; Swanson M.A.; Van Hove J.L.; Ugarte M.; Perez B.; Perez-Cerda C.; Rodriguez-Pombo P.;
Hum. Mutat. 38:678-691(2017)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY; INVOLVEMENT IN NKH; VARIANTS NKH LYS-146; PRO-173; ALA-267; CYS-362; TRP-373; GLU-376; TRP-461; PRO-548; TYR-580; ARG-581; ASP-624; ASP-763; GLU-768; TRP-790; HIS-866; GLY-905; THR-933 AND ARG-994; CHARACTERIZATION OF VARIANTS NKH LYS-146; PRO-173; ALA-267; CYS-362; TRP-373; GLU-376; TRP-461; PRO-548; TYR-580; ARG-581; ASP-624; ASP-763; GLU-768; TRP-790; HIS-866; GLY-905; THR-933 AND ARG-994;
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.