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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15269: Variant p.Gly387Ala

Serine palmitoyltransferase 1
Gene: SPTLC1
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Variant information Variant position: help 387 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Glycine (G) to Alanine (A) at position 387 (G387A, p.Gly387Ala). 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 glycine (G) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 Does not affect catalytic activity towards serine; does not affect the interaction with SPTLC2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 387 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 473 The length of the canonical sequence.
Location on the sequence: help KEKCGQIHKALQGISGLKVV G ESLSPAFHLQLEESTGSREQ 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                         KEKCGQIHKALQGISG-----LKVVGESLSPAFHLQLEESTGSRE---Q

Mouse                         KKKCQNIHKSLQGVSG-----LKVVGESLSPALHLQLEEST

Rat                           KKKCQTIHKSLQGVSG-----LKVVGESLCPALHLQLEEST

Bovine                        KEKCKRIHKALQGIPG-----LKVVGESISPALHLQLEETT

Caenorhabditis elegans        INGQKKLQDALSG-SK-----FSLQGCPESPMKHIYYNG--

Slime mold                    HSNIGELYQGLNK-SGALNGLLEITSLPISPVIHLSLLDSK

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 – 473 Serine palmitoyltransferase 1
Topological domain 37 – 473 Cytoplasmic
Alternative sequence 144 – 473 Missing. In isoform 2.
Beta strand 381 – 387



Literature citations
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Verhoeven K.; Coen K.; De Vriendt E.; Jacobs A.; Van Gerwen V.; Smouts I.; Pou-Serradell A.; Martin J.-J.; Timmerman V.; De Jonghe P.;
Neurology 62:1001-1002(2004)
Cited for: VARIANT ALA-387; Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Rotthier A.; Baets J.; De Vriendt E.; Jacobs A.; Auer-Grumbach M.; Levy N.; Bonello-Palot N.; Kilic S.S.; Weis J.; Nascimento A.; Swinkels M.; Kruyt M.C.; Jordanova A.; De Jonghe P.; Timmerman V.;
Brain 132:2699-2711(2009)
Cited for: VARIANTS HSAN1A PHE-331 AND VAL-352; VARIANT ALA-387; 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.