Variant position: 534 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 960 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 AIREYEEEFFQNSKLLKTSM LKAHQVTTRNLSLAVSDCFWK
Mouse AIREYEEEFFQNSKLLKTSM LKAHQVTTRNLSLAVSDCFWK
Rat AIREYEEEFFQNSKLLKTSM LKAHQVTTRNLSLAVSDCFWK
Chicken SIKEYEEEFFQNSKLLKTSM LKAHQVTTKNLSLAVSDCFWK
Zebrafish SIKDYEEDFFQNSRLLKDGM LKAHQVTTKNLSLAVSDCFWK
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
88 – 960 Dynamin-like 120 kDa protein, mitochondrial
195 – 960 Dynamin-like 120 kDa protein, form S1
114 – 960 Mitochondrial intermembrane
285 – 561 Dynamin-type G
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
Spiegel R.; Saada A.; Flannery P.J.; Burte F.; Soiferman D.; Khayat M.; Eisner V.; Vladovski E.; Taylor R.W.; Bindoff L.A.; Shaag A.; Mandel H.; Schuler-Furman O.; Shalev S.A.; Elpeleg O.; Yu-Wai-Man P.;
J. Med. Genet. 53:127-131(2016)
Cited for: INVOLVEMENT IN MTDPS14; VARIANT MTDPS14 ARG-534;
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.