Variant position: 206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 773 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 SRALQSICSDLQYWPVFIQS----- RGFKT---LKSRTRRLQSTSERLA
Mouse PKTLRSICSDLQYFPVFIQS----- RGFKT---LKSRTRRL
Rat PKTLQSICSDLQNFPVFIQS----- RGFKT---LKSRTRRL
Drosophila VKVIPTITPGLLR-PLFSQQQLNQI RGFKTDRSIEAEQKRN
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 – 773 ATP-dependent zinc metalloprotease YME1L1
1 – 295 Mitochondrial matrix
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.
Hartmann B.; Wai T.; Hu H.; MacVicar T.; Musante L.; Fischer-Zirnsak B.; Stenzel W.; Graef R.; van den Heuvel L.; Ropers H.H.; Wienker T.F.; Huebner C.; Langer T.; Kaindl A.M.;
Cited for: INVOLVEMENT IN OPA11; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; SUBUNIT; POST-TRANSLATIONAL PROCESSING; INVOLVEMENT IN MITOCHONDRIAL DISORDER; VARIANT OPA11 TRP-206; CHARACTERIZATION OF VARIANT OPA11 TRP-206; MUTAGENESIS OF GLU-439;
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.