Variant position: 293 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:
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 GAVACLTAISDFYYTVMFRI HAEFQLSEPPDFPFWFSPAQF
Mouse GTVACLTAISDSYYTVMFRI HAEFQLSEPPDFPFWFSPGQF
Xenopus tropicalis GSVACIRAISDFYYDIVFRI HAEFQLNEPPNFPFWFSPGQF
Zebrafish GAVACIRATSDFYYDIVFRI HAEFQLNDVPDFPFWFTPGQF
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
44 – 590 Selenoprotein N
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 RSMD1 GLU-273; ARG-293 AND GLN-466; VARIANTS TYR-142 AND LYS-502; TISSUE SPECIFICITY;
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;
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