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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15269: Variant p.Ser331Phe

Serine palmitoyltransferase 1
Gene: SPTLC1
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Variant information Variant position: help 331 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 Phenylalanine (F) at position 331 (S331F, p.Ser331Phe). 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 aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In HSAN1A; severe form with early onset; reduced canonical activity towards serine and increased production of deoxysphingolipids; no effect on subcellular location at the endoplasmic reticulum. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 331 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 LASIGGFCCGRSFVIDHQRL S GQGYCFSASLPPLLAAAAIE 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                         LASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIE

Mouse                         LASVGGFCCGRSFVVDHQRLSGQGYCFSASLPPLLAAAAIE

Rat                           LASVGGFCCGRSFVVDHQRLSGQGYCFSASLPPLLAAAAIE

Bovine                        LASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIE

Caenorhabditis elegans        LASTGGFCVGRSYVVGHQRLSGLGYCFSASLPPLLATAASE

Slime mold                    FSSGGGFCCGSPEVVYHQRLNGVGYVFSASLPPFLACSSTK
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.
Mutagenesis 337 – 337 F -> A. Strongly decreased catalytic activity with L-serine and palmitoyl-CoA as substrates.
Mutagenesis 338 – 338 S -> A. Decreased catalytic activity with L-serine and palmitoyl-CoA as substrates.
Helix 322 – 331



Literature citations
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; Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
Rotthier A.; Penno A.; Rautenstrauss B.; Auer-Grumbach M.; Stettner G.M.; Asselbergh B.; Van Hoof K.; Sticht H.; Levy N.; Timmerman V.; Hornemann T.; Janssens K.;
Hum. Mutat. 32:E2211-E2225(2011)
Cited for: VARIANT HSAN1A PHE-331; CHARACTERIZATION OF VARIANTS HSAN1A TRP-133; PHE-331 AND VAL-352; SUBCELLULAR LOCATION; Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation.
Suh B.C.; Hong Y.B.; Nakhro K.; Nam S.H.; Chung K.W.; Choi B.O.;
Mol. Med. Report. 9:481-486(2014)
Cited for: VARIANT HSAN1A PHE-331;
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.