Variant position: 352 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 GQGYCFSASLPPLLAAAAIE ALNIMEENP----GIFAVLKEKCGQ
Mouse GQGYCFSASLPPLLAAAAIE ALNIMEENP----DIFAVLKK
Rat GQGYCFSASLPPLLAAAAIE ALNIMEENP----GIFAVLKK
Bovine GQGYCFSASLPPLLAAAAIE ALNIMEENP----GIFAVLKE
Caenorhabditis elegans GLGYCFSASLPPLLATAASE AISIIDEEPSRVQKVTEMAIN
Slime mold GVGYVFSASLPPFLACSSTK AIEMLEENP----KMLEMLHS
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
144 – 473 Missing. In isoform 2.
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.;
Cited for: VARIANTS HSAN1A PHE-331 AND VAL-352;
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 PHE-331 AND VAL-352;
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.