UniProtKB/Swiss-Prot Q13148: Variant p.Ala90Val

TAR DNA-binding protein 43
Gene: TARDBP
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Variant information Variant position:

90 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 Alanine (A) to Valine (V) at position 90 (A90V, p.Ala90Val). 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 hydrophobic (V) 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
Other resources:

Links to websites of interest for the variant.

Variant rs80356715 [ dbSNP | Ensembl ]

Sequence information Variant position:

90 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:

NLVYVVNYPKDNKRKMDETD A SSAVKVKRAVQKTSDLIVLG 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                         N-LVYVVNYPKDNK-RKMDETDASSAVK--------------------VKRAVQKTS---DLIVLG

Mouse                         N-LVYVVNYPKDNK-RKMDETDASSAVK-------------

Chicken                       N-LVYVVNYPKDNK-RKMDETDASSAVK-------------

Xenopus tropicalis            N-LVYVVNYPKDNK-RKMDETDASSAVK-------------

Caenorhabditis elegans        NKTFFVIVAPQSERVRALSSADATSAKRRKVGSSDDSDSDD

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 – 414	TAR DNA-binding protein 43
Motif	82 – 98	Nuclear localization signal
Cross	79 – 79	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross	84 – 84	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross	95 – 95	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross	102 – 102	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Alternative sequence	19 – 134	Missing. In isoform 2.

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; 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; 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; Novel TARDBP mutations in Nordic ALS patients.
Chiang H.H.; Andersen P.M.; Tysnes O.B.; Gredal O.; Christensen P.B.; Graff C.;
J. Hum. Genet. 57:316-319(2012)
Cited for: VARIANT VAL-90; VARIANTS ALS10 ARG-357; THR-361 AND PRO-379;

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.