Variant position: 272 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 LIQMYIPSLLIVILSWISFW INMDAAPARVGLGITTVLTMT
Mouse LIQMYIPSLLIVILSWISFW INMDAAPARVGLGITTVLTMT
Rat LIQMYIPSLLIVILSWISFW INMDAAPARVGLGITTVLTMT
Bovine LIQMYIPSLLIVILSWISFW INMDAAPARVGLGITTVLTMT
Zebrafish LIQMYIPSLLIVILSWVSFW INMDAAPARVGLGITTVLTMT
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
251 – 272 Helical; Name=1
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.
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.
Rees M.I.; Andrew M.; Jawad S.; Owen M.J.;
Hum. Mol. Genet. 3:2175-2179(1994)
Cited for: VARIANT HKPX1 ASN-272;
Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel.
Lynch J.W.; Rajendra S.; Pierce K.D.; Handford C.A.; Barry P.H.; Schofield P.R.;
EMBO J. 16:110-120(1997)
Cited for: CHARACTERIZATION OF VARIANTS HKPX1 ASN-272; LEU-299; GLN-299; GLU-304 AND CYS-307; FUNCTION; SUBCELLULAR LOCATION; BIOPHYSICOCHEMICAL PROPERTIES;
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.