UniProtKB/Swiss-Prot Q14203: Variant p.Ile196Val

Dynactin subunit 1
Gene: DCTN1
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Variant information Variant position:

196 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 Isoleucine (I) to Valine (V) at position 196 (I196V, p.Ile196Val). 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:

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
Variant description:

No effect of its interaction with TBCB; no loss of localization to microtubules. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs55862001 [ dbSNP | Ensembl ]

Sequence information Variant position:

196 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:

GELSSSEPSTPAQTPLAAPI I PTPVLTSPGAVPPLPSPSKE 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                         GELSSSEPS-TPAQTPLAAPIIPTPV--LTSPGAVPPLPSPSKE

Mouse                         GELSSSEPS-TPAQTPLAAPIIPTPA--LTSPGAAPPLPSP

Rat                           GELSSSEPS-TPAQTPLAAPIIPTPA--LTSPGAAPPLPSP

Pig                           GELSSSEPS-TPAQTPLAAPIIPTPA--LTSPGAAPPLPSP

Chicken                       GEMSSSEPS-TPAQTPLVAPVIPSPS--LTSPVAPM-VPSP

Xenopus laevis                GEISSSEPS-TPAQTPLAAPIIPSPSSAITSPVAPLPGPGP

Drosophila                    GFLEILKPQFTPSQ-PLRSPSFTMPS--NSGAEDKVALLEA

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
Region	100 – 223	Disordered
Modified residue	179 – 179	Phosphoserine; by PLK1
Modified residue	212 – 212	Phosphoserine; by CDK1
Mutagenesis	179 – 179	S -> A. Non-phosphorylatable by PLK1. Decreased nuclear envelope localization. No loss of microtubule-binding. No effect on its interaction with CLIP1.
Mutagenesis	179 – 179	S -> D. No loss of localization to nuclear envelope. Decrease in microtubule-binding. No effect on its interaction with CLIP1.
Mutagenesis	212 – 212	S -> A. No effect on its interaction with CLIP1 and PLK1.

Literature citations
The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis.
Muench C.; Meyer R.; Linke P.; Meyer T.; Ludolph A.C.; Haas J.; Hemmer B.;
Acta Neurol. Scand. 116:231-234(2007)
Cited for: VARIANTS VAL-196; GLN-495 AND ILE-1249;

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.