Variant position: 149 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 353 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 PTS-PCLLPDPLQEPYYQPPY TLVLELTGVLLHPEWSLATGW
Mouse PTS-PCLLPDPLREPYYQPPY TLVLELTGVLLHPEWSLATG
Bovine PTS-PCLLPDPLREPYYQPPY TLVLELTGVLLHPEWSLATG
Zebrafish PTS-PKLLPDPLREPYYQPPY TLVLELTDVLLHPEWSLATG
Caenorhabditis elegans PAR-EQLLPDPLPAPYLQPKY TIVIELKNILVHPEWTYKTG
Slime mold PGKIHKVLPPPLPG---GKKY TLVIDIDAL---TEITKTSK
Baker's yeast PPF-PDLLPPPPPPPY-QRPL TLVITLEDFLVHSEWSQKHG
Fission yeast PAF-EKLLPDPLPEPY-NRPY TLVLSLDDLLIHSEWTRQHG
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
45 – 353 Mitochondrial import inner membrane translocase subunit TIM50
87 – 353 Mitochondrial intermembrane
143 – 286 FCP1 homology
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour M.A.; Staretz-Chacham O.; Dayan D.; Stephen J.; Weech A.; Damseh N.; Pri Chen H.; Edvardson S.; Mazaheri S.; Saada A.; Hershkovitz E.; Shaag A.; Huizing M.; Abu-Libdeh B.; Gahl W.A.; Azem A.; Anikster Y.; Vilboux T.; Elpeleg O.; Malicdan M.C.;
Clin. Genet. 91:690-696(2017)
Cited for: VARIANTS TRP-114 AND MET-149;
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.