Variant position: 168 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 314 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 RKKNNQVSFLHVYHHCTMFT LWWIGIKWVAGGQAFFGAQLN
Rhesus macaque RKKNNQVSFLHVYHHCTMFT LWWIGIKWVAGGQAFFGAQMN
Mouse RKKNNQVSFLHVYHHCTMFT LWWIGIKWVAGGQAFFGAQMN
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 – 314 Elongation of very long chain fatty acids protein 4
165 – 185 Helical
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
Cadieux-Dion M.; Turcotte-Gauthier M.; Noreau A.; Martin C.; Meloche C.; Gravel M.; Drouin C.A.; Rouleau G.A.; Nguyen D.K.; Cossette P.;
JAMA Neurol. 71:470-475(2014)
Cited for: INVOLVEMENT IN SCA34; VARIANT SCA34 PHE-168;
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