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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13501: Variant p.Ser318Pro

Sequestosome-1
Gene: SQSTM1
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Variant information Variant position: help 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Serine (S) to Proline (P) at position 318 (S318P, p.Ser318Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In FTDALS3. Any additional useful information about the variant.


Sequence information Variant position: help 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 440 The length of the canonical sequence.
Location on the sequence: help GNVEGATQSLAEQMRKIALE S EGRPEEQMESDNCSGGDDDW The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GNVEGATQSLAEQMRKIALESEGRPEEQMESDNCSGGDDDW

Mouse                         GAGEGPAQSLTEQMKKIALESVGQPEEQMESGNCSGGDDDW

Rat                           GAGEGPAQSLTEQMKKIALESVGQPEELMESDNCSGGDDDW
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 2 – 440 Sequestosome-1
Region 264 – 390 Disordered
Region 269 – 440 Interaction with NTRK1
Compositional bias 314 – 328 Basic and acidic residues
Modified residue 306 – 306 Phosphoserine
Modified residue 328 – 328 Phosphoserine
Modified residue 332 – 332 Phosphoserine
Mutagenesis 332 – 332 S -> A. No effect on MAP1LC3B-binding.
Mutagenesis 338 – 338 W -> A. Strong decrease in MAP1LC3B-binding, disrupts interaction with GABARAP.



Literature citations
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F.; Yan J.; Vemula S.P.; Liu E.; Yang Y.; Chen W.; Zheng J.G.; Shi Y.; Siddique N.; Arrat H.; Donkervoort S.; Ajroud-Driss S.; Sufit R.L.; Heller S.L.; Deng H.X.; Siddique T.;
Arch. Neurol. 68:1440-1446(2011)
Cited for: INVOLVEMENT IN FTDALS3; VARIANTS FTDALS3 VAL-33; ILE-153; LEU-228; LYS-238 DEL; PRO-318; CYS-321; PRO-370; LEU-392; SER-411 AND ARG-425;
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.