Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00400: Variant p.Ser113Arg

Acetyl-coenzyme A transporter 1
Gene: SLC33A1
Feedback?
Variant information Variant position: help 113 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 Arginine (R) at position 113 (S113R, p.Ser113Arg). 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 large size and basic (R) 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 SPG42; significant increase in the amount of nuclear phosphorylated SMAD1-SMAD5-SMAD8 protein complex; marked increase of the BMPR1A protein level; no change for BMPR2 protein level; decrease of BMPR1A degradation; Loss of homodimerization in the endoplasmic membrane; loss of acetyl-CoA transport activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 113 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 549 The length of the canonical sequence.
Location on the sequence: help GSIPLILQSKNVSYTDQAFF S FVFWPFSLKLLWAPLVDAVY 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                         GSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVY

Mouse                         GSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVY

Rat                           GSIPLILQSKNVSYTDQAFFSFVFWPFSLKLLWAPLVDAVY
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 1 – 549 Acetyl-coenzyme A transporter 1
Topological domain 96 – 113 Extracellular
Glycosylation 103 – 103 N-linked (GlcNAc...) asparagine



Literature citations
Identification and Functional Analysis of a SLC33A1: c.339T>G (p.Ser113Arg) Variant in the Original SPG42 Family.
Mao F.; Li Z.; Zhao B.; Lin P.; Liu P.; Zhai M.; Liu Q.; Shao C.; Sun W.; Gong Y.;
Hum. Mutat. 36:240-249(2015)
Cited for: FUNCTION; VARIANT SPG42 ARG-113; CHARACTERIZATION OF VARIANT SPG42 ARG-113; A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).
Lin P.; Li J.; Liu Q.; Mao F.; Li J.; Qiu R.; Hu H.; Song Y.; Yang Y.; Gao G.; Yan C.; Yang W.; Shao C.; Gong Y.;
Am. J. Hum. Genet. 83:752-759(2008)
Cited for: VARIANT SPG42 ARG-113; Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer.
Peng Y.; Li M.; Clarkson B.D.; Pehar M.; Lao P.J.; Hillmer A.T.; Barnhart T.E.; Christian B.T.; Mitchell H.A.; Bendlin B.B.; Sandor M.; Puglielli L.;
J. Neurosci. 34:6772-6789(2014)
Cited for: CHARACTERIZATION OF VARIANT SPG42 ARG-113; FUNCTION; TRANSPORTER ACTIVITY; SUBUNIT;
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.