Variant position: 259 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 780 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 SGWSSPKDVILKVAGILTVK GGTGAIVEYHGPGVDSISCTG
Mouse SGWTSPKDVILKVAGILTVK GGTGAIVEYHGPGVDSISCTG
Rat SGWTSPKDVILKVAGILTVK GGTGAIVEYHGPGVDSISCTG
Pig SGWTSPKDVILKVAGILTVK GGTGAIVEYHGPGVDSISCTG
Bovine SGWTSPKDVILKVAGILTVK GGTGAIVEYHGPGVDSISCTG
Caenorhabditis elegans NGWTSAKDVILKVADILTVK GGTGAIVEYFGPGVDSISATG
Slime mold KGWSSPKDVILRVADILTVK GGTGAIVEYFGSGVESLSCTG
Baker's yeast NGWTSPKDIILKLAGITTVK GGTGKIVEYFGDGVDTFSATG
Fission yeast KGWTSPKDVILKVAGILTVK GGTGAIVEYFGPGVESLSCTG
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 – 780 Aconitate hydratase, mitochondrial
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
Metodiev M.D.; Gerber S.; Hubert L.; Delahodde A.; Chretien D.; Gerard X.; Amati-Bonneau P.; Giacomotto M.C.; Boddaert N.; Kaminska A.; Desguerre I.; Amiel J.; Rio M.; Kaplan J.; Munnich A.; Rotig A.; Rozet J.M.; Besmond C.;
J. Med. Genet. 51:834-838(2014)
Cited for: INVOLVEMENT IN OPA9; INVOLVEMENT IN ICRD; VARIANTS OPA9 VAL-74 AND ARG-661; VARIANTS ICRD ASP-259 AND ASN-736;
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.