UniProtKB/Swiss-Prot O60260: Variant p.Ser167Asn

E3 ubiquitin-protein ligase parkin
Gene: PRKN
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Variant information Variant position:

167 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Serine (S) to Asparagine (N) at position 167 (S167N, p.Ser167Asn). 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 small size and polar (S) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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
Other resources:

Links to websites of interest for the variant.

Variant rs1801474 [ dbSNP | Ensembl ]

Sequence information Variant position:

167 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:

YVYCKGPCQRVQPGKLRVQC S TCRQATLTLTQGPSCWDDVL 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                         YVYCKGPCQRVQPGKLRVQCSTCRQATLTLTQGPSCWDDVL

Mouse                         FIYCKGPCHKVQPGKLRVQCGTCKQATLTLAQGPSCWDDVL

Rat                           FVYCKGPCHKVQPGKLRVQCGTCRQATLTLAQGPSCWDDVL

Drosophila                    FVHC-SQCDKLCNGKLRVRCALCKGGAFTVHRDPECWDDVL

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
Chain	1 – 465	E3 ubiquitin-protein ligase parkin
Zinc finger	141 – 225	RING-type 0; atypical
Region	77 – 237	Necessary for PINK1-dependent localization to mitochondria
Modified residue	175 – 175	Phosphothreonine; by PINK1
Alternative sequence	1 – 191	Missing. In isoform 4.
Alternative sequence	58 – 206	Missing. In isoform 6.
Mutagenesis	175 – 175	T -> A. Loss of phosphorylation. Reduced mitochondrial localization; when associated with A-217.
Mutagenesis	175 – 175	T -> E. Phosphomimetic mutant. Mostly localizes to the mitochondria; when associated with E-217.
Turn	167 – 169

Literature citations
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe.
Abbas N.; Luecking C.B.; Ricard S.; Duerr A.; Bonifati V.; De Michele G.; Bouley S.; Vaughan J.R.; Gasser T.; Marconi R.; Broussolle E.; Brefel-Courbon C.; Harhangi B.S.; Oostra B.A.; Fabrizio E.; Bohme G.A.; Pradier L.; Wood N.W.; Filla A.; Meco G.; Denefle P.; Agid Y.; Brice A.;
Hum. Mol. Genet. 8:567-574(1999)
Cited for: VARIANTS PARK2 ASN-161; CYS-256; TRP-275 AND ASN-415; VARIANTS ASN-167; LEU-380 AND ASN-394; Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease.
Satoh J.; Kuroda Y.;
NeuroReport 10:2735-2739(1999)
Cited for: VARIANT ASN-167; Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan.
Hu C.-J.; Sung S.-M.; Liu H.-C.; Lee C.-C.; Tsai C.-H.; Chang J.-G.;
Eur. Neurol. 44:90-93(2000)
Cited for: VARIANTS ASN-167; TRP-366 AND LEU-380; 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.;
Neurology 60:796-801(2003)
Cited for: VARIANTS PARK2 VAL-192; ASN-211; MET-240 AND LEU-437; VARIANT ASN-167; INVOLVEMENT IN LATE-ONSET PARK;

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.