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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00441: Variant p.Phe21Cys

Superoxide dismutase [Cu-Zn]
Gene: SOD1
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Variant information Variant position: help 21
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Cysteine (C) at position 21 (F21C, p.Phe21Cys).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and polar (C)
BLOSUM score: help -2
Variant description: help In ALS1.
Other resources: help


Sequence information Variant position: help 21
Protein sequence length: help 154
Location on the sequence: help MATKAVCVLKGDGPVQGIIN F EQKESNGPVKVWGSIKGLTE
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
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
Andersen P.M.; Sims K.B.; Xin W.W.; Kiely R.; O'Neill G.; Ravits J.; Pioro E.; Harati Y.; Brower R.D.; Levine J.S.; Heinicke H.U.; Seltzer W.; Boss M.; Brown R.H. Jr.;
Amyotroph. Lateral Scler. 4:62-73(2003)
Cited for: VARIANTS ALS1 VAL-9; CYS-21; LEU-23; ARG-49; ARG-55; ALA-88; THR-90; MET-98; LEU-106; ALA-115; LEU-119; GLY-125 AND ARG-148;
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.