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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13148: Variant p.Met337Val

TAR DNA-binding protein 43
Gene: TARDBP
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Variant information Variant position: help 337 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 Methionine (M) to Valine (V) at position 337 (M337V, p.Met337Val). 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 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: help 1 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; impedes the development of normal limb and tail buds and increases the number of apoptotic nuclei when expressed in chick embryos; loss of ability to negatively regulate the expression of CDK6. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 337 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 SINPAMMAAAQAALQSSWGM M GMLASQQNQSGPSGNNQNQG 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                         SINPAMMAAAQAALQSSWGMMGMLASQQNQSGPSGNNQNQG

Mouse                         SINPAMMAAAQAALQSSWGMMGMLASQQNQSGPSGNNQSQG

Chicken                       SINPAMMAAAQAALQSSWGMMGMLASQQNQSGPSGNNQPQG

Xenopus tropicalis            SINPAMMAAAQAALQSSWGMMGMLASQQNQSGPQGSNQGQG

Caenorhabditis elegans        ------------------------ERDRPDRRPIQNEAPLP
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 334 – 342



Literature citations
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
Sreedharan J.; Blair I.P.; Tripathi V.B.; Hu X.; Vance C.; Rogelj B.; Ackerley S.; Durnall J.C.; Williams K.L.; Buratti E.; Baralle F.; de Belleroche J.; Mitchell J.D.; Leigh P.N.; Al-Chalabi A.; Miller C.C.; Nicholson G.; Shaw C.E.;
Science 319:1668-1672(2008)
Cited for: VARIANTS ALS10 ALA-294; LYS-331 AND VAL-337; VARIANT VAL-90; CHARACTERIZATION OF VARIANTS ALS10 LYS-331 AND VAL-337; 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; Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.
Kirby J.; Goodall E.F.; Smith W.; Highley J.R.; Masanzu R.; Hartley J.A.; Hibberd R.; Hollinger H.C.; Wharton S.B.; Morrison K.E.; Ince P.G.; McDermott C.J.; Shaw P.J.;
Neurogenetics 11:217-225(2010)
Cited for: VARIANTS ALS10 SER-287; VAL-321; VAL-337 AND VAL-348; VARIANT VAL-90; CHARACTERIZATION OF VARIANTS ALS10 SER-287; VAL-321 AND VAL-337; FUNCTION;
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.