Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13148: Variant p.Ala382Thr

TAR DNA-binding protein 43
Gene: TARDBP
Feedback?
Variant information Variant position: help 382 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help 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: help 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: help 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: help In ALS10. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 382 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 414 The length of the canonical sequence.
Location on the sequence: help 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: help 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

Caenorhabditis elegans        RPPQDYS-----YRQQN----------------SPLERRYW
Sequence annotation in neighborhood: help 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
Region 216 – 414 Interaction with UBQLN2
Beta strand 382 – 384



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.