UniProtKB/Swiss-Prot Q99720: Variant p.Arg211Gln

Sigma non-opioid intracellular receptor 1
Gene: SIGMAR1
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Variant information Variant position:

211 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Arginine (R) to Glutamine (Q) at position 211 (R211Q, p.Arg211Gln). 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 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:

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
Other resources:

Links to websites of interest for the variant.

Variant rs192644838 [ dbSNP | Ensembl ]

Sequence information Variant position:

211 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:

FSTQDFLTLFYTLRSYARGL R LELTTYLFGQDP 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                         FSTQDFLTLFYTLRSYARGLRLELTTYLFGQDP-

Mouse                         FSTQDYLTLFYTLRAYARGLRLELTTYLFGQDS

Rat                           FSTQDFLTLFYTLRAYARGLRLELTTYLFGQDP

Bovine                        FSTQDFLTLFYTLRAYARGLRLELTTYLFGQDA

Chicken                       FSTQDFITLFYTLRAYTKGLLLEASAFFSTLGC

Xenopus laevis                FSTQDFLTLFYTVKVYSKALLLEASTHLSQLGF

Xenopus tropicalis            FSTQDFLTLFYTVKVYGKALLLETSTHLSELGF

Zebrafish                     FSTQDFLTLFYTARVYVKGMILEASTFLTESGV

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
Chain	1 – 223	Sigma non-opioid intracellular receptor 1
Topological domain	31 – 223	Cytoplasmic
Region	177 – 223	C-terminal hydrophobic region
Alternative sequence	107 – 223	Missing. In isoform 4.
Mutagenesis	195 – 195	D -> G. No effect on ligand-binding.
Mutagenesis	213 – 213	E -> G. No effect on ligand-binding.
Helix	196 – 218

Literature citations
Lack of association between sigma receptor gene variants and schizophrenia.
Satoh F.; Miyatake R.; Furukawa A.; Suwaki H.;
Psychiatry Clin. Neurosci. 58:359-363(2004)
Cited for: VARIANTS PRO-2 AND GLN-211;

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.