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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00441: Variant p.Gly73Ser

Superoxide dismutase [Cu-Zn]
Gene: SOD1
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Variant information Variant position: help 73
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Serine (S) at position 73 (G73S, p.Gly73Ser).
Physico-chemical properties: help Change from glycine (G) to small size and polar (S)
BLOSUM score: help 0
Variant description: help In ALS1.
Other resources: help


Sequence information Variant position: help 73
Protein sequence length: help 154
Location on the sequence: help DNTAGCTSAGPHFNPLSRKH G GPKDEERHVGDLGNVTADKD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 154 Superoxide dismutase [Cu-Zn]
Binding site 64 – 64
Binding site 64 – 64
Binding site 72 – 72
Binding site 81 – 81
Binding site 84 – 84
Modified residue 92 – 92 N6-succinyllysine
Disulfide bond 58 – 147
Mutagenesis 58 – 58 C -> A. Exhibits very slow copper acquisition.
Mutagenesis 58 – 58 C -> S. Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-7; S-112 and S-147.
Mutagenesis 81 – 81 H -> A. Loss of zinc binding and enhanced tendency to form aggregates; when associated with A-84.
Mutagenesis 81 – 81 H -> S. Destabilization of dimer and loss of zinc binding; when associated with S-84.
Mutagenesis 84 – 84 D -> A. Loss of zinc binding and enhanced tendency to form aggregates; when associated with A-81.
Mutagenesis 84 – 84 D -> S. Destabilization of dimer and loss of zinc binding; when associated with S-81.



Literature citations
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
Orrell R.W.; Marklund S.L.; deBelleroche J.S.;
J. Neurol. Sci. 153:46-49(1997)
Cited for: VARIANT ALS1 SER-73;
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.