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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23416: Variant p.Arg350Leu

Glycine receptor subunit alpha-2
Gene: GLRA2
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Variant information Variant position: help 350 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 Leucine (L) at position 350 (R350L, p.Arg350Leu). 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 hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 MRXSP; affects channel activity; results in slower channel closing and increased conductance consistent with a gain-of-function effect; results in prolonged inhibitory post-synaptic currents. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 350 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 452 The length of the canonical sequence.
Location on the sequence: help AALLEYAAVNFVSRQHKEFL R LRRRQKRQNKEEDVTRESRF 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                         AALLEYAAVNFVSRQHKEFLRLRRRQKRQNKEEDVTRESRF

Mouse                         AALLEYAAVNFVSRQHKEFLRLRRRQKRQNKEEDVTRESRF

Rat                           AALLEYAAVNFVSRQHKEFLRLRRRQKRQNKEEDVTRESRF

Zebrafish                     AALLEYAGVNFVSRQQKEFLRLKRRQRRTQKEEDL-QDGRL
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 28 – 452 Glycine receptor subunit alpha-2
Topological domain 337 – 420 Cytoplasmic
Mutagenesis 350 – 350 R -> AKI. No effect on the kinetics of inhibitory post-synaptic currents.



Literature citations
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Piton A.; Gauthier J.; Hamdan F.F.; Lafreniere R.G.; Yang Y.; Henrion E.; Laurent S.; Noreau A.; Thibodeau P.; Karemera L.; Spiegelman D.; Kuku F.; Duguay J.; Destroismaisons L.; Jolivet P.; Cote M.; Lachapelle K.; Diallo O.; Raymond A.; Marineau C.; Champagne N.; Xiong L.; Gaspar C.; Riviere J.B.; Tarabeux J.; Cossette P.; Krebs M.O.; Rapoport J.L.; Addington A.; Delisi L.E.; Mottron L.; Joober R.; Fombonne E.; Drapeau P.; Rouleau G.A.;
Mol. Psychiatry 16:867-880(2011)
Cited for: VARIANT MRXSP LEU-350; Structure-Function Analysis of the GlyR alpha2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function.
Zhang Y.; Ho T.N.T.; Harvey R.J.; Lynch J.W.; Keramidas A.;
Front. Mol. Neurosci. 10:158-158(2017)
Cited for: CHARACTERIZATION OF VARIANT MRXSP LEU-350; MUTAGENESIS OF ARG-350;
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.