Variant position: 192 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 ATLTLTQGPSCWDDVLIPNR MSGECQSPHCPGTSAEFFFKC
Mouse ATLTLAQGPSCWDDVLIPNR MSGECQSPDCPGTRAEFFFKC
Rat ATLTLAQGPSCWDDVLIPNR MSGECQSPDCPGTRAEFFFKC
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
175 – 175 Phosphothreonine; by PINK1
58 – 206 Missing. In isoform 6.
179 – 206 Missing. In isoform 2 and isoform 7.
175 – 175 T -> A. Loss of phosphorylation. Reduced mitochondrial localization; when associated with A-217.
175 – 175 T -> E. Phosphomimetic mutant. Mostly localizes to the mitochondria; when associated with E-217.
211 – 211 K -> N. Loss of activity towards MIRO1.
192 – 196
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
Foroud T.; Uniacke S.K.; Liu L.; Pankratz N.; Rudolph A.; Halter C.; Shults C.; Marder K.; Conneally P.M.; Nichols W.C.;
Cited for: VARIANTS PARK2 VAL-192; ASN-211; MET-240 AND LEU-437; VARIANT ASN-167; INVOLVEMENT IN LATE-ONSET PARK;
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