Sequence information
Variant position: 508 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:
TGGISTLGLQELKEQSPCPS
R GRVEGGGVSSLLPNHHHPHG
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 TGGISTLGLQELKEQSPCPSR GRVEGGGVSSLLPNHHHPHG
Mouse TGGISTLGLQELKEQSPCPSR GRAEGGGASSLLPNHHHPHG
Rat TGGISTLGLQELKEQSPCPNR GRAEGGGASNLLPNHHHPHG
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.