Variant position: 463 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 ENKLVHSILLWGALDDQSCX GSGRTLRETVLESSPILTLLN
Mouse EKKLVHSILLWGALDDQSCX GSGRTLRETVLESPPILTLLN
Xenopus tropicalis EKKLVHSVLLWGALDDQSCX GSGRTLRETVLESLPVLALLN
Zebrafish EKKLVHSILLWGALDDQSCX GSGRTLRETVLESSPVLALLN
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
462 – 462 Selenocysteine
483 – 483 N-linked (GlcNAc...) asparagine
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 RSMD1 VAL-463; GLN-466; GLN-469 AND TRP-469;
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.