UniProtKB/Swiss-Prot Q96FT7: Variant p.Val511Ala

Acid-sensing ion channel 4
Gene: ASIC4
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Variant information Variant position:

511 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 Valine (V) to Alanine (A) at position 511 (V511A, p.Val511Ala). 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 medium size and hydrophobic (V) to small size and hydrophobic (A) 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 rs11695248 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ISTLGLQELKEQSPCPSRGR V EGGGVSSLLPNHHHPHGPPG 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                         ISTLGLQELKEQSPCPSRGRVEGGGVSSLLPNHHHPHGPPG

Mouse                         ISTLGLQELKEQSPCPSRGRAEGGGASSLLPNHHHPHGPPG

Rat                           ISTLGLQELKEQSPCPNRGRAEGGGASNLLPNHHHPHGPPG

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 – 539	Acid-sensing ion channel 4
Topological domain	460 – 539	Cytoplasmic
Region	501 – 531	Disordered
Alternative sequence	291 – 539	Missing. In isoform 2.

Literature citations
A new member of acid-sensing ion channels from pituitary gland.
Gruender S.; Geisler H.-S.; Baessler E.-L.; Ruppersberg J.P.;
NeuroReport 11:1607-1611(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3); TISSUE SPECIFICITY; MUTAGENESIS OF GLY-441; FUNCTION; VARIANTS LEU-508 AND ALA-511; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANTS LEU-508 AND ALA-511; Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia.
Gruender S.; Geisler H.-S.; Rainier S.; Fink J.K.;
Eur. J. Hum. Genet. 9:672-676(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3); VARIANTS LEU-508 AND ALA-511;

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.