Variant position: 65 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 223 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 LARQYAGLDHELAFSRLIVE LRRLHPGHVLPDEELQWVFVN
Mouse LARQYAGLDHELAFSRLIVE LRRLHPGHVLPDEELQWVFVN
Rat LARQYAGLDHELAFSRLIVE LRRLHPGHVLPDEELQWVFVN
Bovine LARQYAGLDHELAFSRLIVE LRRLHPGHVLPDEDLQWVFVN
Chicken LARHHAGLDHELAFSKIIVE LRKKHPGHILPDEDLQWVFVN
Xenopus laevis LAKEHSGLDYEVAFSKIIVE LRKKHPGHILQDEDLQWVFVN
Xenopus tropicalis LAKEHSGLDYEVAFSKIITE LRKKHPGRILPDEDLQWVFVN
Zebrafish LAKQYAGQDHEQAFSKVVVE LRRRYPGHILPDEDLQWVFVN
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
1 – 223 Sigma non-opioid intracellular receptor 1
31 – 223 Cytoplasmic
63 – 76 Missing. In isoform 5.
54 – 68
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Horga A.; Tomaselli P.J.; Gonzalez M.A.; Laura M.; Muntoni F.; Manzur A.Y.; Hanna M.G.; Blake J.C.; Houlden H.; Zuechner S.; Reilly M.M.;
Cited for: VARIANT DSMA2 GLN-65;
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.