Variant position: 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 186 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 PRTPEERAAAAKKYNMRVED YEPYPDDGMGYGDYPKLPDRS
Gorilla PRTPEERAAAAKKYNMRVED YEPYPDDGMGYGDYPKLPDRS
Chimpanzee PRTPEERAAAAKKYNMRVED YEPYPDDGMGYGDYPKLPDRS
Mouse PRTPEERAAAAKKYNMRVED YEPYPDDGMGYGDYPMLPNRS
Bovine PKTPEERAAAAKKYNMRVED YEPYPDDGTGYGDYPKLPDRS
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
29 – 186 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D.; Assouline Z.; Matakovic L.; Feichtinger R.G.; Konarikova E.; Jurkiewicz E.; Stawinski P.; Gusic M.; Koller A.; Pollak A.; Gasperowicz P.; Trubicka J.; Ciara E.; Iwanicka-Pronicka K.; Rokicki D.; Hanein S.; Wortmann S.B.; Sperl W.; Roetig A.; Prokisch H.; Pronicka E.; Ploski R.; Barcia G.; Mayr J.A.;
Am. J. Hum. Genet. 102:460-467(2018)
Cited for: INVOLVEMENT IN MC1DN32; VARIANTS MC1DN32 HIS-62; GLN-76; 105-MET--VAL-156 DEL AND TRP-144;
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