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UniProtKB/Swiss-Prot Q9NZV5: Variant p.Gly315Ser

Selenoprotein N
Gene: SELENON
Variant information

Variant position:  315
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Serine (S) at position 315 (G315S, p.Gly315Ser).
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:  Change from glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Involvement in disease:  Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269|PubMed:16365872}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Involvement in disease:  Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure. {ECO:0000269|PubMed:11528383, ECO:0000269|PubMed:12192640, ECO:0000269|PubMed:15122708, ECO:0000269|PubMed:15668457, ECO:0000269|PubMed:18713863, ECO:0000269|PubMed:19067361}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In RSMD1 and CFTD.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  315
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  590
The length of the canonical sequence.

Location on the sequence:   EFQLSEPPDFPFWFSPAQFT  G HIILSKDATHVRDFRLFVPN
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                         EFQLSEPPDFPFWFSPAQFTGHIILSKDATHVRDFRLFVPN

Mouse                         EFQLSEPPDFPFWFSPGQFTGHIILSKDATHIRDFRLFVPN

Xenopus tropicalis            EFQLNEPPNFPFWFSPGQFTGNIVISKDAAHVRHFKLFVPN

Zebrafish                     EFQLNDVPDFPFWFTPGQFAGHIILSKDASHVRDFHIYVPN

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.

TypePositionsDescription
Chain 44 – 590 Selenoprotein N


Literature citations

SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
Clarke N.F.; Kidson W.; Quijano-Roy S.; Estournet B.; Ferreiro A.; Guicheney P.; Manson J.I.; Kornberg A.J.; Shield L.K.; North K.N.;
Ann. Neurol. 59:546-552(2006)
Cited for: INVOLVEMENT IN CFTD; VARIANT CFTD SER-315;

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 RSMD1 ARG-293; SER-315; ILE-340; SER-453; GLY-462 AND GLN-466;

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Ferreiro A.; Ceuterick-de Groote C.; Marks J.J.; Goemans N.; Schreiber G.; Hanefeld F.; Fardeau M.; Martin J.-J.; Goebel H.H.; Richard P.; Guicheney P.; Bonnemann C.G.;
Ann. Neurol. 55:676-686(2004)
Cited for: VARIANT RSMD1 SER-315;

Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
Venance S.L.; Koopman W.J.; Miskie B.A.; Hegele R.A.; Hahn A.F.;
Neurology 64:395-396(2005)
Cited for: VARIANT RSMD1 SER-315;

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.