Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00441: Variant p.Gly17Ser

Superoxide dismutase [Cu-Zn]
Gene: SOD1
Feedback?
Variant information Variant position: help 17
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Serine (S) at position 17 (G17S, p.Gly17Ser).
Physico-chemical properties: help Change from glycine (G) to small size and polar (S)
BLOSUM score: help 0
Variant description: help In ALS1; sporadic young onset.
Other resources: help


Sequence information Variant position: help 17
Protein sequence length: help 154
Location on the sequence: help MATKAVCVLKGDGPVQ G IINFEQKESNGPVKVWGSIK
Sequence annotation in neighborhood: help
TypePositionsDescription
Initiator methionine 1 – 1 Removed
Chain 2 – 154 Superoxide dismutase [Cu-Zn]
Modified residue 2 – 2 N-acetylalanine
Modified residue 4 – 4 N6-succinyllysine
Modified residue 10 – 10 N6-succinyllysine
Lipidation 7 – 7 S-palmitoyl cysteine
Cross 33 – 33 1-(tryptophan-3-yl)-tryptophan (Trp-Trp) (interchain with W-33)
Mutagenesis 7 – 7 C -> S. Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-58; S-112 and S-147.
Mutagenesis 7 – 7 C -> S. No palmitoylation, reduced nuclear targeting.
Beta strand 16 – 25



Literature citations
Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.
Kawamata J.; Shimohama S.; Takano S.; Harada K.; Ueda K.; Kimura J.;
Hum. Mutat. 9:356-358(1997)
Cited for: VARIANT ALS1 SER-17;
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.