Sequence information
Variant position: 113 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:
HNAAFGNCKAMWNRWFGMFA
N LPIGIPYSISFKRYHMDHHR
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 HNAAFGNCKAMWNRWFGMFAN LPIGIPYSISFKRYHMDHHR
Mouse HNFPFGHHKALWNRWFGMFAN LSLGVPYSISFKRYHMDHHR
Rat HNFPFGHHKAMWNRWFGMFAN LSLGVPYSISFKRYHMDHHR
Bovine HNSAFGHYKAMWNRWFGIFAN LPIGVPYSVSFKRYHMDHHR
Chicken HNSAFGNGRAMWNRWFGIFAN LPLGLPYSISFKRYHMDHHR
Xenopus tropicalis HNSAFGNSKAMWNRCFGMFAN LPLGLPYSVSFKRYHMDHHR
Caenorhabditis elegans HNQAFGTNRPLANRIFGFIAN LPMCIPMSISFKKYHLEHHR
Drosophila HNLAFGHSRPMHNRILGFICN LPIGLPMSISFKKYHLEHHR
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
Transmembrane
102 – 122
Helical
Literature citations
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant D.C.; Dorboz I.; Schluter A.; Fourcade S.; Launay N.; Joya J.; Aguilera-Albesa S.; Yoldi M.E.; Casasnovas C.; Willis M.J.; Ruiz M.; Ville D.; Lesca G.; Siquier-Pernet K.; Desguerre I.; Yan H.; Wang J.; Burmeister M.; Brady L.; Tarnopolsky M.; Cornet C.; Rubbini D.; Terriente J.; James K.N.; Musaev D.; Zaki M.S.; Patterson M.C.; Lanpher B.C.; Klee E.W.; Pinto e Vairo F.; Wohler E.; Sobreira N.L.M.; Cohen J.S.; Maroofian R.; Galehdari H.; Mazaheri N.; Shariati G.; Colleaux L.; Rodriguez D.; Gleeson J.G.; Pujades C.; Fatemi A.; Boespflug-Tanguy O.; Pujol A.;
J. Clin. Invest. 129:1240-1256(2019)
Cited for: FUNCTION; INVOLVEMENT IN HLD18; VARIANTS HLD18 THR-37; 107-TRP--GLU-323 DEL; ASP-113; ARG-132; TRP-133; 173-ARG--GLU-323 DEL; ASP-189; SER-255; 284-TYR--GLU-323 DEL; 293-TRP--GLU-323 DEL AND GLU-323 DEL; CHARACTERIZATION OF VARIANTS HLD18 ASP-113 AND SER-255;
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.