Variant position: 289 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 298 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 AFFKGAWSNVLRGMGGAFVL VLYDEI------KKYV
Mouse AFFKGAWSNVLRGMGGAFVL VLYDEI----
Rat AFFKGAWSNVLRGMGGAFVL VLYDEI----
Bovine AFFKGAWSNVLRGMGGAFVL VLYDEI----
Rabbit AFFKGAWSNVLRGMGGAFVL VLYDEI----
Baker's yeast SLFKGCGANIFRGVAAAGVI SLYDQLQLIM
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
2 – 298 ADP/ATP translocase 1
273 – 298 Helical; Name=6
212 – 297 Solcar 3
272 – 272 N6-succinyllysine
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Kaukonen J.; Juselius J.K.; Tiranti V.; Kyttala A.; Zeviani M.; Comi G.P.; Keranen J.; Peltonen L.; Suomalainen A.;
Cited for: VARIANTS PEOA2 PRO-114 AND MET-289;
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Agostino A.; Valletta L.; Chinnery P.F.; Ferrari G.; Carrara F.; Taylor R.W.; Schaefer A.M.; Turnbull D.M.; Tiranti V.; Zeviani M.;
Cited for: VARIANT PEO MET-289;
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.