Sequence information
Variant position: 280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 323 The length of the canonical sequence.
Location on the sequence:
NEHHDFPNIPGKSLPLVRKI
A AEYYDNLPHYNSWIKVLYDF
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 NEHHDFPNIPGKSLPLVRKIA AEYYDNLPHYNSWIKVLYDF
Mouse NEHHDFPNVPGKNLPMVRKIA SEYYDDLPHYNSWIKVLYDF
Rat NEHHDFPNVPGKNLPLVRKIA SEYYDNLPHYNSWIRVLYDF
Bovine NEHHDFPNIPGKSLPLVRKIA AEYYDNLPHYNSWIKVLYDF
Chicken NEHHDFPNIPGKSLPLVKKIA AEYYDNLPQYNSWIKVLYDF
Xenopus tropicalis NEHHDFPSVPGKNLPLVRKIA AEYYDPLPKYSSWVKVLYDF
Caenorhabditis elegans VEHHDFPYITGSNLPKVREIA PEYYQDWQTHDSWVGMMADF
Drosophila NEHHDFPAVPGSRLPEVKRIA KEFYDTMPQHTSWTRVLYDF
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
2 – 323
Sphingolipid delta(4)-desaturase DES1
Literature citations
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Karsai G.; Kraft F.; Haag N.; Korenke G.C.; Haenisch B.; Othman A.; Suriyanarayanan S.; Steiner R.; Knopp C.; Mull M.; Bergmann M.; Schroeder J.M.; Weis J.; Elbracht M.; Begemann M.; Hornemann T.; Kurth I.;
J. Clin. Invest. 129:1229-1239(2019)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; INVOLVEMENT IN HLD18; VARIANT HLD18 VAL-280; CHARACTERIZATION OF VARIANT HLD18 VAL-280;
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.