UniProtKB/Swiss-Prot O60260: Variant p.Val380Leu

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

380 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 Valine (V) to Leucine (L) at position 380 (V380L, p.Val380Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 rs1801582 [ dbSNP | Ensembl ]

Sequence information Variant position:

380 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:

CGFAFCRECKEAYHEGECSA V FEASGTTTQAYRVDERAAEQ 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                         CGFAFCRECKEAYHEGECSAVFEASGTTTQ---AYRVDERAAEQ

Mouse                         CGFVFCRDCKEAYHEGDCDSLLEPSGATSQ---AYRVDKRA

Rat                           CGFVFCRDCKEAYHEGECDSMFEASGATSQ---AYRVDQRA

Drosophila                    CGYVFCRNCLQGYHIGEC--LPEGTGASATNSCEYTVDPNR

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
Region	234 – 465	TRIAD supradomain
Region	378 – 410	REP
Binding site	360 – 360
Binding site	365 – 365
Binding site	368 – 368
Binding site	373 – 373
Binding site	377 – 377
Cross	369 – 369	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ISG15)
Alternative sequence	298 – 465	Missing. In isoform 3.
Alternative sequence	369 – 465	Missing. In isoform 5.
Mutagenesis	365 – 365	C -> S. Impairs protein folding.
Helix	379 – 381

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; 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; Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.
Munoz E.; Tolosa E.; Pastor P.; Marti M.J.; Valldeoriola F.; Campdelacreu J.; Oliva R.;
J. Neurol. Neurosurg. Psych. 73:582-584(2002)
Cited for: VARIANT PARK2 MET-15; VARIANTS LEU-380 AND ASN-394; Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.
Oliveira S.A.; Scott W.K.; Martin E.R.; Nance M.A.; Watts R.L.; Hubble J.P.; Koller W.C.; Pahwa R.; Stern M.B.; Hiner B.C.; Ondo W.G.; Allen F.H. Jr.; Scott B.L.; Goetz C.G.; Small G.W.; Mastaglia F.; Stajich J.M.; Zhang F.; Booze M.W.; Winn M.P.; Middleton L.T.; Haines J.L.; Pericak-Vance M.A.; Vance J.M.;
Ann. Neurol. 53:624-629(2003)
Cited for: VARIANTS PARK2 GLN-33; GLU-82; ASP-430 AND LEU-437; VARIANTS PARK TYR-253; CYS-256; TRP-275 AND ASN-280; VARIANTS LEU-380 AND ASN-394;

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.