Variant position: 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 463 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 NIVESAAENMVKLYSLFLKY DATMIEINPMVEDSDGAVLCM
Mouse NIVDSAAENMIKLYNLFLKY DATMVEINPMVEDSDGKVLCM
Bovine SIVDSAAENMIKLYDPFLKY DATMVEINPMVEDSDGAVLCM
Caenorhabditis elegans DCEQQASEIIEKLYQMFKGS DATLVEINPMAEDVNGDVYCM
Slime mold KNISMAQDQMKKLYDFFIKN DCTLVEINPLAETASGDVLCM
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
53 – 463 Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial
61 – 288 ATP-grasp
258 – 258 Magnesium
The novel mutation p.Asp251Asn in the beta-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
Jaberi E.; Chitsazian F.; Ali Shahidi G.; Rohani M.; Sina F.; Safari I.; Malakouti Nejad M.; Houshmand M.; Klotzle B.; Elahi E.;
J. Hum. Genet. 58:526-530(2013)
Cited for: VARIANT MTDPS5 ASN-251;
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