Variant position: 334 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 RYQQYGAEECVLQMGGVLCP RPGCGAGLLPEPDQRKVTCEG
Mouse RYQQYGAEECVLQMGGVLCP RPGCGAGLLPEQGQRKVTCEG
Rat RYQQYGAEECVLQMGGVLCP RPGCGAGLLPEQGQKKVTCEG
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
313 – 377 IBR-type
298 – 465 Missing. In isoform 3.
312 – 361 Missing. In isoform 7 and isoform 8.
332 – 332 C -> S. Impairs folding of IBR domain.
337 – 337 C -> A. Impairs the ability to ubiquitinate SNCAIP.
Association between early-onset Parkinson's disease and mutations in the parkin gene.
Luecking C.B.; Duerr A.; Bonifati V.; Vaughan J.R.; De Michele G.; Gasser T.; Harhangi B.S.; Meco G.; Denefle P.; Wood N.W.; Agid Y.; Brice A.;
N. Engl. J. Med. 342:1560-1567(2000)
Cited for: VARIANTS PARK2 ASN-161; ASN-211; CYS-256; TRP-275; ASN-280; GLY-289; GLU-328; CYS-334; ASN-415 AND ASP-430;
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.