Home  |  Contact

UniProtKB/Swiss-Prot Q96D31: Variant p.Gly98Ser

Calcium release-activated calcium channel protein 1
Gene: ORAI1
Variant information

Variant position:  98
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Serine (S) at position 98 (G98S, p.Gly98Ser).
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 glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Involvement in disease:  Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883]: A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities. {ECO:0000269|PubMed:24591628, ECO:0000269|PubMed:28058752}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In TAM2; constitutively active Ca(+2) channel, independently of STIM proteins; no effect on localization to the cell membrane.
Any additional useful information about the variant.

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



Sequence information

Variant position:  98
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  301
The length of the canonical sequence.

Location on the sequence:   KLYLSRAKLKASSRTSALLS  G FAMVAMVEVQLDADHDYPPG
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                         KLYLSRAKLKASSRTSALLSGFAMVAMVEVQLDADHDYPPG

Mouse                         KLYLSRAKLKASSRTSALLSGFAMVAMVEVQLDTDHDYPPG

Rat                           KLYLSRAKLKASSRTSALLSGFAMVAMVEVQLDTDHDYPPG

Chicken                       KLYLSRAKLKASSRTSALLSGFAMVAMVEVQLDAEHDYPRG

Xenopus laevis                KLYLSRAKLKASSRTSALLSGFAMVAMVEVQLEPNHAYPPG

Zebrafish                     KLYLSRAKLKASSRTSALLSGFAMVAMVEVQLDTNHDYPPG

Drosophila                    KLQLSRAKLKASSKTSALLSGFAMVAMVEVQLDHDTNVPPG

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 – 301 Calcium release-activated calcium channel protein 1
Transmembrane 88 – 105 Helical


Literature citations

ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy.
Boehm J.; Bulla M.; Urquhart J.E.; Malfatti E.; Williams S.G.; O'Sullivan J.; Szlauer A.; Koch C.; Baranello G.; Mora M.; Ripolone M.; Violano R.; Moggio M.; Kingston H.; Dawson T.; DeGoede C.G.; Nixon J.; Boland A.; Deleuze J.F.; Romero N.; Newman W.G.; Demaurex N.; Laporte J.;
Hum. Mutat. 38:426-438(2017)
Cited for: VARIANTS TAM2 SER-98; MET-107 AND MET-184; SUBCELLULAR LOCATION;

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.