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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23415: Variant p.Arg280His

Glycine receptor subunit alpha-1
Gene: GLRA1
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Variant information Variant position: help 280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Histidine (H) at position 280 (R280H, p.Arg280His). 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: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In HKPX1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 457 The length of the canonical sequence.
Location on the sequence: help LLIVILSWISFWINMDAAPA R VGLGITTVLTMTTQSSGSRA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA

Mouse                         LLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA

Rat                           LLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA

Bovine                        LLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRA

Zebrafish                     LLIVILSWVSFWINMDAAPARVGLGITTVLTMTTQSSGSRA
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 29 – 457 Glycine receptor subunit alpha-1
Transmembrane 278 – 298 Helical; Name=2
Site 289 – 289 Important for obstruction of the ion pore in the closed conformation
Mutagenesis 282 – 282 G -> A. Increased single-channel conductance. No effect on glycine sensitivity, but decreased rate of activation.
Helix 278 – 280



Literature citations
Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.
Vergouwe M.N.; Tijssen M.A.; Peters A.C.; Wielaard R.; Frants R.R.;
Ann. Neurol. 46:634-638(1999)
Cited for: VARIANTS HKPX1 HIS-280 AND HIS-428; New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Bode A.; Wood S.E.; Mullins J.G.; Keramidas A.; Cushion T.D.; Thomas R.H.; Pickrell W.O.; Drew C.J.; Masri A.; Jones E.A.; Vassallo G.; Born A.P.; Alehan F.; Aharoni S.; Bannasch G.; Bartsch M.; Kara B.; Krause A.; Karam E.G.; Matta S.; Jain V.; Mandel H.; Freilinger M.; Graham G.E.; Hobson E.; Chatfield S.; Vincent-Delorme C.; Rahme J.E.; Afawi Z.; Berkovic S.F.; Howell O.W.; Vanbellinghen J.F.; Rees M.I.; Chung S.K.; Lynch J.W.;
J. Biol. Chem. 288:33745-33759(2013)
Cited for: VARIANTS HKPX1 TRP-93; CYS-100; TRP-246; GLU-254; SER-258; PRO-319 AND ALA-424; CHARACTERIZATION OF VARIANTS HKPX1 TRP-93; CYS-100; TRP-246; GLU-254; SER-258; HIS-280; MET-308; PRO-319; ALA-424 AND HIS-450; FUNCTION; SUBCELLULAR LOCATION;
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.