Variant position: 736 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 NKIHPVDKLTIQGLKDFTPG KPLKCIIKHPN-GTQETILLNH
Mouse NKIHPVDKLTIQGLKDFAPG KPLKCVIKHPN-GTQETILLN
Rat NKIHPVDKLTIQGLKDFAPG KPLNCIIKHPN-GTQETILLN
Pig NKIHPVDKLTIQGLKDFAPG KPLKCIIKHPN-GTQETILLN
Bovine NKIHPVDKLTIKGLKDFAPG KPLTCIIKHPN-GTQETILLN
Caenorhabditis elegans DKIDPSDNVSIVGLSSFAPG KPLTAIFKKTN-GSKVEVTLN
Slime mold DKISGDDRISIIGLKDLAPG KQLTLIVKSAKQGSEFEIKAN
Baker's yeast DKINPDDRIDILGLAELAPG KPVTMRVHPKN-GKPWDAVLT
Fission yeast DKISPFDTVDIDGLTTFAPG KPLTLVVHPADGSAEWSTKLN
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
723 – 723 N6-acetyllysine; alternate
723 – 723 N6-succinyllysine; alternate
730 – 730 N6-acetyllysine; alternate
730 – 730 N6-succinyllysine; alternate
736 – 736 N6-acetyllysine
739 – 739 N6-acetyllysine
743 – 743 N6-acetyllysine
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.