Variant position: 619 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 647 The length of the canonical sequence.
Location on the sequence:
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 ISTLGLQELKEQSPCPSRGR VEGGGVSSLLPNHHHPHGPPG
Mouse ISTLGLQELKEQSPCPSRGR AEGGGASSLLPNHHHPHGPPG
Rat ISTLGLQELKEQSPCPNRGR AEGGGASNLLPNHHHPHGPPG
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
1 – 647 Acid-sensing ion channel 4
568 – 647 Cytoplasmic
609 – 639 Disordered
418 – 647 Missing. In isoform 2.
A new member of acid-sensing ion channels from pituitary gland.
Gruender S.; Geisler H.-S.; Baessler E.-L.; Ruppersberg J.P.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; TISSUE SPECIFICITY; MUTAGENESIS OF GLY-549; FUNCTION; VARIANTS LEU-616 AND ALA-619;
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-616 AND ALA-619;
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] OF 95-647; VARIANTS LEU-616 AND ALA-619;
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.