UniProtKB/Swiss-Prot O15269 : Variant p.Cys133Tyr
Serine palmitoyltransferase 1
Gene: SPTLC1
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Variant information
Variant position:
133
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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:
From Cysteine (C) to Tyrosine (Y) at position 133 (C133Y, p.Cys133Tyr).
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:
Change from medium size and polar (C) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-2
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:
In HSAN1A; reduced canonical activity towards serine; does not affect the interaction with SPTLC2.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
133
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
473
The length of the canonical sequence.
Location on the sequence:
DNPRVKAAALASLKKYGVGT
C GPRGFYGTFDVHLDLEDRLA
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:
The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DNPRVKAAALASLKKYGVGTC GPRGFYGTFDVHLDLEDRLA
Mouse ANPRVKATAFSSLKKYGVGTC GPRGFYGTFDVHLDLEERLA
Rat ANPRVKAAAFASLKKYGVGTC GPRGFYGTFDVHLDLEERLA
Bovine DNPRLKAAALASLKKYGVGTC GPRGFYGTFDVHLDLEDRLA
Caenorhabditis elegans GVKRIEDRAKQTIFKYGVGSC GPRGFYGTVDVHLDLEKELA
Slime mold NNPEINKISENAIRKYGVGSC GPRGFYGTIDVHLDLEKKTA
Baker's yeast ATEPVKEVVKTTIKNYGVGAC GPAGFYGNQDVHYTLEYDLA
Fission yeast ENKHITECAVATLRECGLGAC GPPGFYGTQDKHLRLEKDIA
Sequence annotation in neighborhood:
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.
Type Positions Description
Chain
1 – 473
Serine palmitoyltransferase 1
Topological domain
37 – 473
Cytoplasmic
Alternative sequence
143 – 143
D -> E. In isoform 2.
Mutagenesis
138 – 138
F -> A. Decreased catalytic activity with L-serine and palmitoyl-CoA as substrates.
Literature citations
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
Dawkins J.L.; Hulme D.J.; Brahmbhatt S.B.; Auer-Grumbach M.; Nicholson G.A.;
Nat. Genet. 27:309-312(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS HSAN1A TRP-133; TYR-133 AND ASP-144;
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
Hornemann T.; Penno A.; Richard S.; Nicholson G.; van Dijk F.S.; Rotthier A.; Timmerman V.; von Eckardstein A.;
Neurogenetics 10:135-143(2009)
Cited for: CHARACTERIZATION OF VARIANTS HSAN1A TYR-133; TRP-133 AND ASP-144; CHARACTERIZATION OF VARIANT ALA-387; LACK OF ASSOCIATION OF VARIANT ALA-387 WITH HSAN1A; INTERACTION WITH SPTLC2;
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.