Variant position: 911 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 959 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 PVGGIKEKTIAAKRAGVTCI VLPAENKKDFYDLAAFITEGL
Mouse PVGGIKEKTIAAKRAGVTCI ILPAENRKDYSDLAPFITEGL
Rat PVGGIKEKTIAAKRAGVTCI ILPAENRKDFSDLAPFITEGL
Bovine PVGGIKEKTIAAKRAGVTCI VLPAENKKDFYDLAAFITEGL
Caenorhabditis elegans PVGGIREKVIAARRVGAKRV FLPNENRRDFDDLPEFMKSEL
Drosophila PVGGIKEKTIAARRSGVNCL ILPVDNKKDFEELPTYITDGL
Baker's yeast RIGGLREKAVAAKRSGAKTI IFPKDNLNDWEELPDNVKEGL
Fission yeast RIGGLREKTVAAKLSGMKEI LFPKSNLADWEQLPDYVKEGL
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
68 – 959 Lon protease homolog, mitochondrial
759 – 949 Lon proteolytic
898 – 898
893 – 893 G -> A. Has low basal, but normal stimulated ATPase activity, and retains peptidase activity.
893 – 893 G -> P. Has normal basal, but low stimulated ATPase activity, and abolishes peptidase activity.
894 – 894 G -> AS. Enhances the basal, but not the stimulated ATPase activity, and retains peptidase activity.
894 – 894 G -> P. Enhances the basal, but not the stimulated ATPase activity, and abolishes peptidase activity.
909 – 913
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Wang W.; Shen P.; Thiyagarajan S.; Lin S.; Palm C.; Horvath R.; Klopstock T.; Cutler D.; Pique L.; Schrijver I.; Davis R.W.; Mindrinos M.; Speed T.P.; Scharfe C.;
Nucleic Acids Res. 39:44-58(2011)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ILE-911;
Cloning and sequence analysis of cDNA for a human homolog of eubacterial ATP-dependent Lon proteases.
Amerik A.Y.; Petukhova G.V.; Grigorenko V.G.; Lykov I.P.; Yarovoi S.V.; Lipkin V.M.; Gorbalenya A.E.;
FEBS Lett. 340:25-28(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-959 (ISOFORM 1); VARIANT ILE-911;
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.