Variant position: 175 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 489 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 EILADIIQNSTLGEAEIERE RGVILREMQEVETNLQEVVFD
Mouse EILADIIQNSTLGEAEIERE RGVILREMQEVETNLQEVVFD
Rat EILADIIQNSTLGEAEIERE RGVILREMQEVETNLQEVVFD
Bovine EILADIIQNSTLGEAEIERE RGVILREMQEVETNLQEVVFD
Slime mold DILSDILQNSKFETSLIEQE RDTILSENDYIQSKEDEVVFD
Baker's yeast DILSDILTKSVLDNSAIERE RDVIIRESEEVDKMYDEVVFD
Fission yeast AVLADILTNSSISASAVERE RQVILREQEEVDKMADEVVFD
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 – 489 Mitochondrial-processing peptidase subunit beta
181 – 181 Zinc
Mutations in PMPCB encoding the catalytic subunit of the mitochondrial presequence protease cause neurodegeneration in early childhood.
Voegtle F.N.; Braendl B.; Larson A.; Pendziwiat M.; Friederich M.W.; White S.M.; Basinger A.; Kuecuekkoese C.; Muhle H.; Jaehn J.A.; Keminer O.; Helbig K.L.; Delto C.F.; Myketin L.; Mossmann D.; Burger N.; Miyake N.; Burnett A.; van Baalen A.; Lovell M.A.; Matsumoto N.; Walsh M.; Yu H.C.; Shinde D.N.; Stephani U.; Van Hove J.L.K.; Mueller F.J.; Helbig I.;
Am. J. Hum. Genet. 102:557-573(2018)
Cited for: INVOLVEMENT IN MMDS6; VARIANTS MMDS6 CYS-175; HIS-175; GLY-177; PRO-201 AND THR-422; CHARACTERIZATION OF VARIANTS MMDS6 CYS-175; HIS-175; GLY-177; PRO-201 AND THR-422; FUNCTION;
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.