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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99798: Variant p.Lys736Asn

Aconitate hydratase, mitochondrial
Gene: ACO2
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Variant information Variant position: help 736 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Lysine (K) to Asparagine (N) at position 736 (K736N, p.Lys736Asn). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In ICRD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 736 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 780 The length of the canonical sequence.
Location on the sequence: help NKIHPVDKLTIQGLKDFTPG K PLKCIIKHPNGTQETILLNH 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         NKIHPVDKLTIQGLKDFTPGKPLKCIIKH-PNGTQ-ETILLNH

Mouse                         NKIHPVDKLTIQGLKDFAPGKPLKCVIKH-PNGTQ-ETILL

Rat                           NKIHPVDKLTIQGLKDFAPGKPLNCIIKH-PNGTQ-ETILL

Pig                           NKIHPVDKLTIQGLKDFAPGKPLKCIIKH-PNGTQ-ETILL

Bovine                        NKIHPVDKLTIKGLKDFAPGKPLTCIIKH-PNGTQ-ETILL

Caenorhabditis elegans        DKIDPSDNVSIVGLSSFAPGKPLTAIFKK-TNGSK-VEVTL

Slime mold                    DKISGDDRISIIGLKDLAPGKQLTLIVKSAKQGSE-FEIKA

Baker's yeast                 DKINPDDRIDILGLAELAPGKPVTMRVHP-KNGKP-WDAVL

Fission yeast                 DKISPFDTVDIDGLTTFAPGKPLTLVVHP-ADGSAEWSTKL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 28 – 780 Aconitate hydratase, mitochondrial
Modified residue 723 – 723 N6-acetyllysine; alternate
Modified residue 723 – 723 N6-succinyllysine; alternate
Modified residue 730 – 730 N6-acetyllysine; alternate
Modified residue 730 – 730 N6-succinyllysine; alternate
Modified residue 736 – 736 N6-acetyllysine
Modified residue 739 – 739 N6-acetyllysine
Modified residue 743 – 743 N6-acetyllysine



Literature citations
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;
Disclaimer: 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.