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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NZV5: Variant p.Arg466Gln

Selenoprotein N
Gene: SELENON
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Variant information Variant position: help 466 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 Glutamine (Q) at position 466 (R466Q, p.Arg466Gln). 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 (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 CMYP3; decreased function in the regulation of ryanodine receptor activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 466 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 590 The length of the canonical sequence.
Location on the sequence: help LVHSILLWGALDDQSCUGSG R TLRETVLESSPILTLLNESF 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                         LVHSILLWGALDDQSCXGSGRTLRETVLESSPILTLLNESF

Mouse                         LVHSILLWGALDDQSCXGSGRTLRETVLESPPILTLLNESF

Xenopus tropicalis            LVHSVLLWGALDDQSCXGSGRTLRETVLESLPVLALLNESF

Zebrafish                     LVHSILLWGALDDQSCXGSGRTLRETVLESSPVLALLNQSF
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 44 – 590 Selenoprotein N
Non 462 – 462 Selenocysteine
Glycosylation 483 – 483 N-linked (GlcNAc...) asparagine



Literature citations
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Moghadaszadeh B.; Petit N.; Jaillard C.; Brockington M.; Roy S.Q.; Merlini L.; Romero N.; Estournet B.; Desguerre I.; Chaigne D.; Muntoni F.; Topaloglu H.; Guicheney P.;
Nat. Genet. 29:17-18(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS CMYP3 GLU-273; ARG-293 AND GLN-466; VARIANTS TYR-142 AND LYS-502; TISSUE SPECIFICITY; Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.
Jurynec M.J.; Xia R.; Mackrill J.J.; Gunther D.; Crawford T.; Flanigan K.M.; Abramson J.J.; Howard M.T.; Grunwald D.J.;
Proc. Natl. Acad. Sci. U.S.A. 105:12485-12490(2008)
Cited for: FUNCTION (ISOFORM 2); INTERACTION WITH RYR1; RYR2 AND RYR3 (ISOFORM 2); CHARACTERIZATION OF VARIANT CMYP3 GLN-466; Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A.; Quijano-Roy S.; Pichereau C.; Moghadaszadeh B.; Goemans N.; Boennemann C.; Jungbluth H.; Straub V.; Villanova M.; Leroy J.-P.; Romero N.B.; Martin J.-J.; Muntoni F.; Voit T.; Estournet B.; Richard P.; Fardeau M.; Guicheney P.;
Am. J. Hum. Genet. 71:739-749(2002)
Cited for: VARIANTS CMYP3 ARG-293; SER-315; ILE-340; SER-453; GLY-462 AND GLN-466; A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
Maiti B.; Arbogast S.; Allamand V.; Moyle M.W.; Anderson C.B.; Richard P.; Guicheney P.; Ferreiro A.; Flanigan K.M.; Howard M.T.;
Hum. Mutat. 30:411-416(2009)
Cited for: VARIANTS CMYP3 VAL-463; GLN-466; GLN-469 AND TRP-469;
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.