Variant position: 475 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 783 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 EKALYPVIPRDFPFTIRVTS EVLESNGSSSMASACGGSLAL
Mouse EKALCPVIPKDFPFTIRVTS EVLESNGSSSMASACGGSLAL
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
46 – 783 Polyribonucleotide nucleotidyltransferase 1, mitochondrial
484 – 484 S -> A. Inhibits poly(A) polymerase and RNA degradation activities. Does not inhibit the import or stabilization of RNase P RNA into the mitochondrial matrix. Does not inhibit homotrimerization activity.
467 – 478
A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.
von Ameln S.; Wang G.; Boulouiz R.; Rutherford M.A.; Smith G.M.; Li Y.; Pogoda H.M.; Nurnberg G.; Stiller B.; Volk A.E.; Borck G.; Hong J.S.; Goodyear R.J.; Abidi O.; Nurnberg P.; Hofmann K.; Richardson G.P.; Hammerschmidt M.; Moser T.; Wollnik B.; Koehler C.M.; Teitell M.A.; Barakat A.; Kubisch C.;
Am. J. Hum. Genet. 91:919-927(2012)
Cited for: VARIANT DFNB70 GLY-475; CHARACTERIZATION OF VARIANT DFNB70 GLY-475;
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