Variant position: 212 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 465 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 MSGECQSPHCPGTSAEFFFK CGAHPTSDKETSVALHLIATN
Mouse MSGECQSPDCPGTRAEFFFK CGAHPTSDKDTSVALNLITSN
Rat MSGECQSPDCPGTRAEFFFK CGAHPTSDKDTSVALNLITNN
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 – 465 E3 ubiquitin-protein ligase parkin
141 – 225 RING-type 0; atypical
77 – 237 Necessary for PINK1-dependent localization to mitochondria
204 – 238 SYT11 binding 1
217 – 217 Phosphothreonine
211 – 211 K -> N. Loss of activity towards MIRO1.
217 – 217 T -> A. Loss of phosphorylation. Reduced mitochondrial localization; when associated with A-175.
217 – 217 T -> E. Phosphomimetic mutant. Mostly localizes to the mitochondria; when associated with E-175.
205 – 212
A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile parkinsonism in a population from North West Colombia.
Pineda-Trujillo N.; Carvajal-Carmona L.G.; Buritica O.; Moreno S.; Uribe C.; Pineda D.; Toro M.; Garcia F.; Arias W.; Bedoya G.; Lopera F.; Ruiz-Linares A.;
Neurosci. Lett. 298:87-90(2001)
Cited for: VARIANT PARK2 TYR-212;
Molecular findings in familial Parkinson disease in Spain.
Hoenicka J.; Vidal L.; Morales B.; Ampuero I.; Jimenez-Jimenez F.J.; Berciano J.; del Ser T.; Jimenez A.; Ruiz P.G.; de Yebenes J.G.;
Arch. Neurol. 59:966-970(2002)
Cited for: VARIANTS PARK2 GLU-56 AND TYR-212;
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