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UniProtKB/Swiss-Prot Q14643: Variant p.Glu2109Gln

Inositol 1,4,5-trisphosphate receptor type 1
Gene: ITPR1
Variant information

Variant position:  2109
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 2109 (E2109Q, p.Glu2109Gln).
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 GLSP.
Any additional useful information about the variant.



Sequence information

Variant position:  2109
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2758
The length of the canonical sequence.

Location on the sequence:   RMDLVLELKNNASKLLLAIM  E SRHDSENAERILYNMRPKEL
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                         RMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKEL

Mouse                         RMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKEL

Rat                           RMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKEL

Bovine                        RMDLVLELKNNASKLLLAIMESRHDSENAERILYNMRPKEL

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 – 2758 Inositol 1,4,5-trisphosphate receptor type 1
Topological domain 1 – 2282 Cytoplasmic
Cross 2127 – 2127 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)


Literature citations

A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect.
McEntagart M.; Williamson K.A.; Rainger J.K.; Wheeler A.; Seawright A.; De Baere E.; Verdin H.; Bergendahl L.T.; Quigley A.; Rainger J.; Dixit A.; Sarkar A.; Lopez Laso E.; Sanchez-Carpintero R.; Barrio J.; Bitoun P.; Prescott T.; Riise R.; McKee S.; Cook J.; McKie L.; Ceulemans B.; Meire F.; Temple I.K.; Prieur F.; Williams J.; Clouston P.; Nemeth A.H.; Banka S.; Bengani H.; Handley M.; Freyer E.; Ross A.; van Heyningen V.; Marsh J.A.; Elmslie F.; FitzPatrick D.R.;
Am. J. Hum. Genet. 98:981-992(2016)
Cited for: INVOLVEMENT IN GLSP; VARIANTS GLSP GLN-2109; ARG-2554 AND LYS-2611 DEL; 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.