Variant position: 94 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 DRFIPGTTKVD--ALKKMLLDQ GGFAPCFLGCFLPLVGALNGL
Mouse DHLIPGTTKVH--ALKKMLLDQ GGFAPCFLGCFLPLVGILN
Rat DHLIPGTTKVN--ALKKMLLDQ GGFAPCFLGCFLPLVGVLN
Bovine DRLIPGTTKVD--ALKKMLLDQ GGFAPCFLGCFLPLVGTLN
Xenopus laevis DRIIPGSGKPV--ALKKMLLDQ VAFAPCFLGCFLSIASALN
Zebrafish DKLVTGGTKSA--ALKKMLVDQ VGFAPCFLGAFLGITGTLN
Caenorhabditis elegans EKVKGNNKSLL--LVKKLCIDQ LCFSPCFNAAILFNLRLLQ
Drosophila ESRVPKTYSPMRRGVTKMLVDQ TLFAPPFTMAMSFLVPLSN
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
94 – 114 Helical
92 – 92 Determines ion selectivity
80 – 80 T -> A. Does not affect gating properties of the channel.
92 – 92 D -> K. Affects ion selectivity of the channel.
99 – 99 C -> A. Does not affect conductance and gating properties of the channel.
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
El-Hattab A.W.; Li F.Y.; Schmitt E.; Zhang S.; Craigen W.J.; Wong L.J.;
Mol. Genet. Metab. 99:300-308(2010)
Cited for: VARIANTS MTDPS6 GLN-50; GLU-88; LYS-88 DEL; LEU-91 DEL; ARG-94; LEU-98 AND ASP-162;
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
Kim J.; Kang E.; Kim Y.; Kim J.M.; Lee B.H.; Murayama K.; Kim G.H.; Choi I.H.; Kim K.M.; Yoo H.W.;
Mol. Genet. Metab. Rep. 8:74-76(2016)
Cited for: VARIANTS MTDPS6 GLU-66; ARG-94 AND LEU-98;
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.