Sequence information
Variant position: 309 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 658 The length of the canonical sequence.
Location on the sequence:
RQLKESGYCTGHEPDSLEFS
T VGGWVSTRASGMKKNIYGNI
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 RQLKESGYCTGHEPDSLEFST VGGWVSTRASGMKKNIYGNI
Mouse RQLKESGYCTGHEPDSLEFST VGGWISTRASGMKKNIYGNI
Rat RQLKESGYCTGHEPDSLEFSI VGGWISTRASGMKKNVYGNI
Caenorhabditis elegans RQLNKKGFTCGHEPDSIEFST LGGWVSTRASGMKKNKYGNI
Drosophila RVLRSEGLTVGHEPDSYEFST LGGWVATRASGMKKNVYGNI
Slime mold KQLHKQGVSLGHDPDSFEFST LGGWLATCSSGHQSDKYGDI
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
59 – 658
Alkyldihydroxyacetonephosphate synthase, peroxisomal
Domain
202 – 384
FAD-binding PCMH-type
Nucleotide binding
303 – 309
FAD
Literature citations
Impaired membrane traffic in defective ether lipid biosynthesis.
Thai T.P.; Rodemer C.; Jauch A.; Hunziker A.; Moser A.; Gorgas K.; Just W.W.;
Hum. Mol. Genet. 10:127-136(2001)
Cited for: VARIANTS RCDP3 ILE-309 AND PRO-469;
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.