UniProtKB/Swiss-Prot O75061: Variant p.Arg562Cys

Auxilin
Gene: DNAJC6
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Variant information Variant position:

562 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 Arginine (R) to Cysteine (C) at position 562 (R562C, p.Arg562Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 rs770127313 [ dbSNP | Ensembl ]

Sequence information Variant position:

562 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

913 The length of the canonical sequence.
Location on the sequence:

SGVEDVFHPSGPASTQSTPR R SATSTSASPTLRVGEGATFD 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                         SGVEDVFHPSGPASTQSTPRRSATSTSASPTLRVGEGATFD

Mouse                         AGVEDVFHPSGPVSAQSTPRRTATSASASPTLRVGEGATFD

Bovine                        SGVDDVFHPSGPTSTQSTPRRSATSTSASPTLRVGEGATFD

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 – 913	Auxilin
Region	451 – 776	Disordered
Compositional bias	551 – 574	Polar residues
Modified residue	563 – 563	Phosphoserine
Modified residue	570 – 570	Phosphoserine
Alternative sequence	456 – 913	Missing. In isoform 3.
Mutagenesis	570 – 570	S -> A. Increase interaction with CLTC. Does not affect interaction with HSPA8.
Mutagenesis	570 – 570	S -> D. Does not affect interaction with CLTC. Does not affect interaction with HSPA8.

Literature citations
DNAJC6 mutations associated with early-onset Parkinson's disease.
Olgiati S.; Quadri M.; Fang M.; Rood J.P.; Saute J.A.; Chien H.F.; Bouwkamp C.G.; Graafland J.; Minneboo M.; Breedveld G.J.; Zhang J.; Verheijen F.W.; Boon A.J.; Kievit A.J.; Jardim L.B.; Mandemakers W.; Barbosa E.R.; Rieder C.R.; Leenders K.L.; Wang J.; Bonifati V.;
Ann. Neurol. 79:244-256(2016)
Cited for: INVOLVEMENT IN PARK19B; VARIANT PARK19B GLY-870; VARIANTS LEU-76; PRO-152; VAL-264; SER-441 AND CYS-562; CHARACTERIZATION OF VARIANT PARK19B GLY-870;

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.