Variant position: 227 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1060 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 KQ----EVEDYLPSFCKWAGDFMH KNTSTDFPQMQLSLPSDNSKD
Mouse LC----EVEEYLPSFSKWAEDFMR KGPSSEFPQMQLSLPSD
Rat RC----EVEEYLPSFSKWADEFMH KGTKAEFPQMHLSLPSD
Bovine KQ----EVEEYLPSFSKWAGDFMH KHTSTDFPQMQLSLPSD
Chicken MQ----EIEEYLPSFFKWTEDFVR NPANQN--KMQLKLPSE
Xenopus laevis MG----EIQEYLPSLSKWATDFMT HPLNQQ--QINRTKSTA
Xenopus tropicalis MG----EVQEYLPSFAKWAIDFMT HPLNQH--QINVTRPTA
Baker's yeast QYVKELVMKEHAENILYFVNKFVS KSNYGCYTSISGTRRTQ
Fission yeast RE----ELDARLPLLKSIVERYL- -----------ISKKND
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 – 1060 DNA replication ATP-dependent helicase/nuclease DNA2
81 – 519 Nuclease activity
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
Ronchi D.; Di Fonzo A.; Lin W.; Bordoni A.; Liu C.; Fassone E.; Pagliarani S.; Rizzuti M.; Zheng L.; Filosto M.; Ferro M.T.; Ranieri M.; Magri F.; Peverelli L.; Li H.; Yuan Y.C.; Corti S.; Sciacco M.; Moggio M.; Bresolin N.; Shen B.; Comi G.P.;
Am. J. Hum. Genet. 92:293-300(2013)
Cited for: VARIANTS PEOA6 HIS-198; GLU-227 AND ILE-637; CHARACTERIZATION OF VARIANTS PEOA6 HHIS-198; GLU-227 AND ILE-637;
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.