Variant position: 144 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:
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 SLKKYGVGTCGPRGFYGTFD VHLDLEDRLAKFMKTEEAIIY
Mouse SLKKYGVGTCGPRGFYGTFD VHLDLEERLAKFMKTEEAIIY
Rat SLKKYGVGTCGPRGFYGTFD VHLDLEERLAKFMKTEEAIIY
Bovine SLKKYGVGTCGPRGFYGTFD VHLDLEDRLAKFMKTEEAIIY
Caenorhabditis elegans TIFKYGVGSCGPRGFYGTVD VHLDLEKELAKFMGCEEAVLY
Slime mold AIRKYGVGSCGPRGFYGTID VHLDLEKKTASFMKTPEAVLY
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
1 – 473 Serine palmitoyltransferase 1
37 – 473 Cytoplasmic
164 – 164 Phosphotyrosine; by ABL
143 – 143 D -> E. In isoform 2.
144 – 473 Missing. In isoform 2.
164 – 164 Y -> F. Increased serine palmitoyltransferase activity and sphingolipid content.
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.;
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;
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.
Ho K.W.D.; Jerath N.U.;
Case Rep. Genet. 2018:1898151-1898151(2018)
Cited for: VARIANT HSAN1A ASP-144;
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