Variant position: 50 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 176 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 GDIISQQLVERRGLQEHQRG RTLTMVSLGCGFVGPVVGGWY
Mouse GDMISQQLVERRGLQQHQAG RTLTMVSLGCGFVGPVVGGWY
Rat GDIISQQLVERRGLQQHQTG RTLTMASLGCGFVGPVVGGWY
Bovine GDVISQQLVERRGLQAHQAG RTLTMASLGCGFVGPVVGGWY
Xenopus laevis GDVISQQLLERKGLKGHSIE RTVKMMGIGFCFVGPVVGGWY
Zebrafish GDVISQQLIERRGLANHNAR RTAKMMSIGFFFVGPVVGGWY
Caenorhabditis elegans GDCLAQYLSHN---QEWDRW RTARFSFLSSCFMAPSLFIWF
Drosophila GDTISQFFFDKKSLDEWDAG RTLRFGIVGLVFVGPTLRRWY
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
1 – 176 Protein Mpv17
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Spinazzola A.; Viscomi C.; Fernandez-Vizarra E.; Carrara F.; D'Adamo P.; Calvo S.; Marsano R.M.; Donnini C.; Weiher H.; Strisciuglio P.; Parini R.; Sarzi E.; Chan A.; Dimauro S.; Rotig A.; Gasparini P.; Ferrero I.; Mootha V.K.; Tiranti V.; Zeviani M.;
Nat. Genet. 38:570-575(2006)
Cited for: VARIANTS MTDPS6 TRP-50; GLN-50 AND LYS-166; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
Karadimas C.L.; Vu T.H.; Holve S.A.; Chronopoulou P.; Quinzii C.; Johnsen S.D.; Kurth J.; Eggers E.; Palenzuela L.; Tanji K.; Bonilla E.; De Vivo D.C.; DiMauro S.; Hirano M.;
Am. J. Hum. Genet. 79:544-548(2006)
Cited for: VARIANT MTDPS6 GLN-50;
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.