UniProtKB/Swiss-Prot O60260: Variant p.Cys212Tyr

E3 ubiquitin-protein ligase parkin
Gene: PARK2
Chromosomal location: 6q25.2-q27
Variant information

Variant position:  212
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Cysteine (C) to Tyrosine (Y) at position 212 (C212Y, p.Cys212Tyr).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (C) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In PARK2.
Any additional useful information about the variant.



Sequence information

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:   MSGECQSPHCPGTSAEFFFK  C GAHPTSDKETSVALHLIATN
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                         MSGECQSPHCPGTSAEFFFKCGAHPTSDKETSVALHLIATN

Mouse                         MSGECQSPDCPGTRAEFFFKCGAHPTSDKDTSVALNLITSN

Rat                           MSGECQSPDCPGTRAEFFFKCGAHPTSDKDTSVALNLITNN

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.

TypePositionsDescription
Chain 1 – 465 E3 ubiquitin-protein ligase parkin
Zinc finger 141 – 225 RING-type 0; atypical
Region 204 – 238 SYT11 binding 1
Beta strand 205 – 212


Literature citations

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;

Disclaimer: 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.