Variant position: 233 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 344 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 LKDVSGVRALESAVQHETLN YIGLLDCVAEYQGKLCVIDWK
Mouse LTEISGVQALESAVQHEALK YVGLLDCVAEYRGKLCVIDWK
Xenopus tropicalis LTDIIGVKSLESAVHHSELQ YLGLVDCVAEYRQKLCVIDWK
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 – 344 Mitochondrial genome maintenance exonuclease 1
238 – 238
251 – 251
253 – 253
251 – 251 D -> A. Abolishes catalytic activity.
253 – 253 K -> A. Abolishes catalytic activity.
253 – 253 K -> A. Abolishes exonuclease activity.
233 – 243
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Kornblum C.; Nicholls T.J.; Haack T.B.; Scholer S.; Peeva V.; Danhauser K.; Hallmann K.; Zsurka G.; Rorbach J.; Iuso A.; Wieland T.; Sciacco M.; Ronchi D.; Comi G.P.; Moggio M.; Quinzii C.M.; Dimauro S.; Calvo S.E.; Mootha V.K.; Klopstock T.; Strom T.M.; Meitinger T.; Minczuk M.; Kunz W.S.; Prokisch H.;
Nat. Genet. 45:214-219(2013)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANT MTDPS11 CYS-233; CHARACTERIZATION OF VARIANT MTDPS11 CYS-233; MUTAGENESIS OF LYS-253;
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.