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UniProtKB/Swiss-Prot Q99720: Variant p.Glu102Gln

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

Variant position:  102
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Glutamate (E) to Glutamine (Q) at position 102 (E102Q, p.Glu102Gln).
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 medium size and acidic (E) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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

Variant description:  In ALS16; the mutation decreases the viability of motor neurons; the mutant protein is shifted to lower density membranes and forms detergent-resistant complexes; there is an almost 2-fold increase in apoptosis in response to stress compared to controls.
Any additional useful information about the variant.

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



Sequence information

Variant position:  102
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:   VFVNAGGWMGAMCLLHASLS  E YVLLFGTALGSRGHSGRYWA
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                         VFVNAGGWMGAMCLLHASLSEYVLLFGTALGSRGHSGRYWA

Mouse                         VFVNAGGWMGAMCILHASLSEYVLLFGTALGSHGHSGRYWA

Rat                           VFVNAGGWMGAMCLLHASLSEYVLLFGTALGSHGHSGRYWA

Bovine                        VFVNAGGWMGAMCLLHASLSEYVLLFGTALGSSGHSGRYWA

Chicken                       VFVNAGGWMGSMCLLHASLTEYVLLFGTAIDTGGHSGRYWA

Xenopus laevis                VFVNAGGWMGSMCLLHASLTEYVLLFGTAVDTGGHSGRYWA

Xenopus tropicalis            VFVNAGGWMGSMCLLHASLTEYVLLFGTAVDTSGHSGRYWA

Zebrafish                     VFVNAGGWMGSMCLLHASLTEYVLLFGTAVDTGGHSGRYWA

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 1 – 223 Sigma non-opioid intracellular receptor 1
Topological domain 31 – 223 Cytoplasmic
Region 99 – 106 Important for ligand-binding
Beta strand 100 – 111


Literature citations

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.
Al-Saif A.; Al-Mohanna F.; Bohlega S.;
Ann. Neurol. 70:913-919(2011)
Cited for: INVOLVEMENT IN ALS16; VARIANT ALS16 GLN-102; CHARACTERIZATION OF VARIANT ALS16 GLN-102;

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.