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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00441: Variant p.Gly109Val

Superoxide dismutase [Cu-Zn]
Gene: SOD1
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Variant information Variant position: help 109
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Valine (V) at position 109 (G109V, p.Gly109Val).
Physico-chemical properties: help Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In ALS1.
Other resources: help


Sequence information Variant position: help 109
Protein sequence length: help 154
Location on the sequence: help TADKDGVADVSIEDSVISLS G DHCIIGRTLVVHEKADDLGK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 154 Superoxide dismutase [Cu-Zn]
Binding site 121 – 121
Modified residue 92 – 92 N6-succinyllysine
Modified residue 99 – 99 Phosphoserine
Modified residue 103 – 103 Phosphoserine
Modified residue 106 – 106 Phosphoserine
Modified residue 108 – 108 Phosphoserine
Modified residue 123 – 123 N6-acetyllysine; alternate
Modified residue 123 – 123 N6-succinyllysine; alternate
Disulfide bond 58 – 147
Mutagenesis 112 – 112 C -> S. Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-7; S-58 and S-147.
Mutagenesis 123 – 123 K -> A. Decreased succinylation.
Mutagenesis 123 – 123 K -> E. Mimicks constitutive succinylation state; decreased activity.
Helix 109 – 111



Literature citations
A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis.
Orrell R.W.; Habgood J.J.; Shepherd D.I.; Donnai D.; de Belleroche J.;
Eur. J. Neurol. 4:48-51(1997)
Cited for: VARIANT ALS1 VAL-109;
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.