Variant position: 249 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 372 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 SGLDVYAHNVETVPELQSKV RDPRANFDQSLRVLKHAKKVQ
Mouse SGLDVYAHNVETVPELQRKV RDPRANFDQSLRVLRHAKEVQ
Rat SGLDVYAHNVETVPELQRKV RDPRANFDQSLRVLKHAKEVQ
Bovine SGLDVYAHNVETVPELQRKV RDPRANFDQSLRVLKHAKEVR
Xenopus laevis SGLDVYAHNVETVPALQRHV RDPRANFDQSLNVLKHAKNVR
Zebrafish SGLDVYAHNVETVRELQRHV RDPRANFDQSLSVLRHAKKVK
Caenorhabditis elegans SGLDVYAHNIETVERLTPWV RDPRAKYRQSLDALRYAKEVS
Drosophila SGLDVYAHNIETVEKLTPYV RDRRAHYRQTLQVLTEAKRFN
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
28 – 372 Lipoyl synthase, mitochondrial
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Mayr J.A.; Zimmermann F.A.; Fauth C.; Bergheim C.; Meierhofer D.; Radmayr D.; Zschocke J.; Koch J.; Sperl W.;
Am. J. Hum. Genet. 89:792-797(2011)
Cited for: VARIANT HGCLAS HIS-249;
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