UniProtKB/Swiss-Prot Q99700: Variant p.Leu107Val

Ataxin-2
Gene: ATXN2
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Variant information Variant position:

107 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 Leucine (L) to Valine (V) at position 107 (L107V, p.Leu107Val). 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:

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
Polymorphism:

The poly-Gln region of ATXN2 is polymorphic: 17 to 29 repeats are found in the normal population. Higher numbers of repeats result in different disease phenotypes depending on the length of the expansion. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs695871 [ dbSNP | Ensembl ]

Sequence information Variant position:

107 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1313 The length of the canonical sequence.
Location on the sequence:

FRPGSRRLLGLGGPPRPFVV L LLPLASPGAPPAAPTRASPL 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                         FRPGSRRLLGLGGPPRPFVVLLLPLASPGAPPAAPTRASPL

Mouse                         SRPGSRRLLGVCGPPRPFVVVLLAL----APAATPARACPP

Caenorhabditis elegans        -----------------------------------------

Drosophila                    -----------------------------------------

Slime mold                    -----------------------------------------

Baker's yeast                 -----------------------------------------

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 – 1313	Ataxin-2
Region	1 – 255	Disordered
Alternative sequence	1 – 981	Missing. In isoform 3.
Alternative sequence	1 – 265	Missing. In isoform 5.

Literature citations
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
Pulst S.-M.; Nechiporuk A.; Nechiporuk T.; Gispert S.; Chen X.-N.; Lopes-Cendes I.; Pearlman S.; Starkman S.; Orozco-Diaz G.; Lunkes A.; DeJong P.; Rouleau G.A.; Auburger G.; Korenberg J.R.; Figueroa C.; Sahba S.;
Nat. Genet. 14:269-276(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); POLYMORPHISM; INVOLVEMENT IN SCA2; TISSUE SPECIFICITY; VARIANT VAL-107; Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
Imbert G.; Saudou F.; Yvert G.; Devys D.; Trottier Y.; Garnier J.-M.; Weber C.; Mandel J.-L.; Cancel G.; Abbas N.; Duerr A.; Didierjean O.; Stevanin G.; Agid Y.; Brice A.;
Nat. Genet. 14:285-291(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 81-1313 (ISOFORM 2); POLYMORPHISM; INVOLVEMENT IN SCA2; TISSUE SPECIFICITY; VARIANT VAL-107;

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.