UniProtKB/Swiss-Prot Q13148: Variant p.Ala382Thr

TAR DNA-binding protein 43
Gene: TARDBP
Chromosomal location: 1p36.23
Variant information

Variant position:  382
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Alanine (A) to Threonine (T) at position 382 (A382T, p.Ala382Thr).
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 hydrophobic (A) to medium size and polar (T)
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 ALS10.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  382
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  414
The length of the canonical sequence.

Location on the sequence:   EPNQAFGSGNNSYSGSNSGA  A IGWGSASNAGSGSGFNGGFG
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                         EPNQAFGSGNNSYSGSNSGAAIGWGSASNAGSGSGFNGGFG

Mouse                         EPNQAFGSGNNSYSGSNSGAPLGWGSASNAGSGSGFNGGFG

Chicken                       EQNQGFSSGNNSYGGSNSGAAIGWGSASNAGSSSGFNGGFG

Xenopus tropicalis            DQPQSFGS-NNSY-GSNSGA-IGWGS-PNAGSGSGFNGGFS

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.

TypePositionsDescription
Chain 1 – 414 TAR DNA-binding protein 43
Compositional bias 274 – 413 Gly-rich


Literature citations

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
Kabashi E.; Valdmanis P.N.; Dion P.; Spiegelman D.; McConkey B.J.; Vande Velde C.; Bouchard J.-P.; Lacomblez L.; Pochigaeva K.; Salachas F.; Pradat P.-F.; Camu W.; Meininger V.; Dupre N.; Rouleau G.A.;
Nat. Genet. 40:572-574(2008)
Cited for: VARIANTS ALS10 GLY-169; SER-287; THR-315; CYS-348; SER-361; THR-382; ASP-390 AND SER-390; VARIANT VAL-90;

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
Corrado L.; Ratti A.; Gellera C.; Buratti E.; Castellotti B.; Carlomagno Y.; Ticozzi N.; Mazzini L.; Testa L.; Taroni F.; Baralle F.E.; Silani V.; D'Alfonso S.;
Hum. Mutat. 30:688-694(2009)
Cited for: VARIANTS ALS10 SER-267; SER-287; VAL-294; SER-295; ARG-295; ASN-332; ASP-335; VAL-337; PRO-379; CYS-379; THR-382 AND LEU-393;

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
Chio A.; Borghero G.; Pugliatti M.; Ticca A.; Calvo A.; Moglia C.; Mutani R.; Brunetti M.; Ossola I.; Marrosu M.G.; Murru M.R.; Floris G.; Cannas A.; Parish L.D.; Cossu P.; Abramzon Y.; Johnson J.O.; Nalls M.A.; Arepalli S.; Chong S.; Hernandez D.G.; Traynor B.J.; Restagno G.;
Arch. Neurol. 68:594-598(2011)
Cited for: VARIANT ALS10 THR-382;

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.
Orru S.; Manolakos E.; Orru N.; Kokotas H.; Mascia V.; Carcassi C.; Petersen M.B.;
Clin. Genet. 81:172-178(2012)
Cited for: VARIANT ALS10 THR-382;

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.