UniProtKB/Swiss-Prot Q9NQT4 : Variant p.Thr114Ile
Exosome complex component RRP46
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Variant information
Variant position:
114
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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:
114 (T114I, p.Thr114Ile).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Variant description:
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
114
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
235
The length of the canonical sequence.
Location on the sequence:
T SITVVLQVVSDAGSLLACCL
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 RERLIRNTCEAVVLGTLHPRT SITVVLQVVSDAGSLLACCL
Mouse RERLVRNTCEAVVLGALHPRT SITVVLQVVSDAGSLLACCL
Caenorhabditis elegans LNNIIHSTLSNAINLELFPHT TISVTVHGIQDDGSMGAVAI
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 – 235 Exosome complex component RRP46
Beta strand
111 – 124
Literature citations
Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Beheshtian M.; Fattahi Z.; Fadaee M.; Vazehan R.; Jamali P.; Parsimehr E.; Kamgar M.; Zonooz M.F.; Mahdavi S.S.; Kalhor Z.; Arzhangi S.; Abedini S.S.; Kermani F.S.; Mojahedi F.; Kalscheuer V.M.; Ropers H.H.; Kariminejad A.; Najmabadi H.; Kahrizi K.;
Clin. Genet. 95:718-725(2019)
Cited for: INVOLVEMENT IN CABAC; VARIANT CABAC ILE-114;
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.
Slavotinek A.; Misceo D.; Htun S.; Mathisen L.; Frengen E.; Foreman M.; Hurtig J.E.; Enyenihi L.; Sterrett M.C.; Leung S.W.; Schneidman-Duhovny D.; Estrada-Veras J.; Duncan J.L.; Haaxma C.A.; Kamsteeg E.J.; Xia V.; Beleford D.; Si Y.; Douglas G.; Treidene H.E.; van Hoof A.; Fasken M.B.; Corbett A.H.;
Hum. Mol. Genet. 29:2218-2239(2020)
Cited for: INVOLVEMENT IN CABAC; VARIANTS CABAC ILE-114; THR-148 AND HIS-206; CHARACTERIZATION OF VARIANTS CABAC ILE-114; THR-148 AND HIS-206;
Risk of sudden cardiac death in EXOSC5-related disease.
Calame D.G.; Herman I.; Fatih J.M.; Du H.; Akay G.; Jhangiani S.N.; Coban-Akdemir Z.; Milewicz D.M.; Gibbs R.A.; Posey J.E.; Marafi D.; Hunter J.V.; Fan Y.; Lupski J.R.; Miyake C.Y.;
Am. J. Med. Genet. A 185:2532-2540(2021)
Cited for: INVOLVEMENT IN CABAC; VARIANTS CABAC LYS-101 AND ILE-114;
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.
