Variant position: 238 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 311 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 MNPLITGVFGAIAGAASVFG NTPLDVIKTRMQGLEAHKYRN
Mouse MNPLITGVFGATAGAASVFG NTPLDVIKTRMQGLEAHKYRN
Rat MNPLITGVFGAVAGAASVFG NTPLDVIKTRMQGLEAHKYRN
Bovine MNPLITGVFGAIAGAASVFG NTPLDVIKTRMQGLEAHKYRN
Caenorhabditis elegans ISKPIVGLMGAVAGAASVYG NTPIDVVKTRMQGLEAKKYKN
Baker's yeast LSSGLTFLVGAFSGIVTVYS TMPLDTVKTRMQSLDSTKYSS
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
14 – 311 Tricarboxylate transport protein, mitochondrial
224 – 241 Helical; Name=5
218 – 303 Solcar 3
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
Cohen I.; Staretz-Chacham O.; Wormser O.; Perez Y.; Saada A.; Kadir R.; Birk O.S.;
Am. J. Med. Genet. A 176:330-336(2018)
Cited for: VARIANT D2L2AD SER-238;
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