Variant position: 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 334 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 NANDPEASKFHDIDDVKKFK PGYLEATLNWFRLYKVPDGKP
Mouse NVNDPEAEKFHDIDDVKKFK PGYLEATLNWFRLYKVPDGKP
Baker's yeast DVNDPLSSKIDDLEKIEEYF PGILDTTREWFRKYKVPAGKP
Fission yeast DINDPRAKLLNDISDVQNLM PRLLPCTRDWFAIYKIPDGKP
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
33 – 334 Inorganic pyrophosphatase 2, mitochondrial
216 – 216 N6-succinyllysine
224 – 224 N6-acetyllysine
Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2.
Kennedy H.; Haack T.B.; Hartill V.; Matakovic L.; Baumgartner E.R.; Potter H.; Mackay R.; Alston C.L.; O'Sullivan S.; McFarland R.; Connolly G.; Gannon C.; King R.; Mead S.; Crozier I.; Chan W.; Florkowski C.M.; Sage M.; Hoefken T.; Alhaddad B.; Kremer L.S.; Kopajtich R.; Feichtinger R.G.; Sperl W.; Rodenburg R.J.; Minet J.C.; Dobbie A.; Strom T.M.; Meitinger T.; George P.M.; Johnson C.A.; Taylor R.W.; Prokisch H.; Doudney K.; Mayr J.A.;
Am. J. Hum. Genet. 99:674-682(2016)
Cited for: FUNCTION; INVOLVEMENT IN SCFAI; INVOLVEMENT IN SCFI; VARIANTS SCFI LEU-127 AND LEU-167; CHARACTERIZATION OF VARIANT SCFI LEU-167; VARIANTS SCFAI LYS-172 AND LEU-228; CHARACTERIZATION OF VARIANTS SCFAI LYS-172 AND LEU-228;
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.