UniProtKB/SwissProt variant VAR

Variant information

Variant position:

52

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

Type of variant:

LP/P [Disclaimer]

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 Phenylalanine (F) to Leucine (L) at position 52 (F52L, p.Phe52Leu).

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 aromatic (F) to medium size and hydrophobic (L)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 PERRYS; mutation carriers either do not develop depression or they do develop it late in the disease course.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs886039227 [ dbSNP | Ensembl ]

Sequence information

Variant position:

52

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

Protein sequence length:

1278

The length of the canonical sequence.

Location on the sequence:

RVEVIGKGHRGTVAYVGATL F ATGKWVGVILDEAKGKNDGT

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                         RVEVIGKGHRGTVAYVGATLFATGKWVGVILDEAKGKNDGT

Mouse                         RVEVIGKGHRGTVAYVGATLFATGKWVGVILDEAKGKNDGT

Rat                           RVEVIGKGHRGTVAYVGATLFATGKWVGVILDEAKGKNDGT

Chicken                       RVEVIGKGHRGTVAYVGATLXATGKWVGVILDEAKGKNDGT

Xenopus laevis                RVEVIGKGYRGTVAYVGATLFATGKWVGVILDDSKGKNDGT

Drosophila                    RVELTGKDLLGTVAYVGMTSFAVGKWVGVVLDEPKGKNSGS

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 – 1278	Dynactin subunit 1
Domain	48 – 90	CAP-Gly
Alternative sequence	1 – 138	MAQSKRHVYSRTPSGSRMSAEASARPLRVGSRVEVIGKGHRGTVAYVGATLFATGKWVGVILDEAKGKNDGTVQGRKYFTCDEGHGIFVRQSQIQVFEDGADTTSPETPDSSASKVLKREGTDTTAKTSKLRGLKPKK -> MMRQ. In isoform p135 and isoform 5.
Mutagenesis	68 – 68	K -> A. Abolishes interaction with CLIP1.
Beta strand	51 – 55

Literature citations

A Novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.
Araki E.; Tsuboi Y.; Daechsel J.; Milnerwood A.; Vilarino-Guell C.; Fujii N.; Mishima T.; Oka T.; Hara H.; Fukae J.; Farrer M.J.;
Mov. Disord. 29:1201-1204(2014)
Cited for: VARIANT PERRYS LEU-52;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14203: Variant p.Phe52Leu