Variant position: 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 457 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 MDAAPARVGLGITTVLTMTT QSSGSRASLPKVSYVKAIDIW
Mouse MDAAPARVGLGITTVLTMTT QSSGSRASLPKVSYVKAIDIW
Rat MDAAPARVGLGITTVLTMTT QSSGSRASLPKVSYVKAIDIW
Bovine MDAAPARVGLGITTVLTMTT QSSGSRASLPKVSYVKAIDIW
Zebrafish MDAAPARVGLGITTVLTMTT QSSGSRASLPKVSYVKAIDIW
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
29 – 457 Glycine receptor subunit alpha-1
278 – 298 Helical; Name=2
289 – 289 Important for obstruction of the ion pore in the closed conformation
282 – 282 G -> A. Increased single-channel conductance. No effect on glycine sensitivity, but decreased rate of activation.
304 – 304 K -> C. Decreases channel conductance; the mutant channel requires much higher glycine concentrations for activation.
291 – 297
A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
Milani N.; Dalpra L.; del Prete A.; Zanini R.; Larizza L.;
Am. J. Hum. Genet. 58:420-422(1996)
Cited for: VARIANT HKPX1 HIS-294;
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