UniProtKB/Swiss-Prot Q96HA7: Variant p.Glu494Lys

Tonsoku-like protein
Gene: TONSL
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Variant information Variant position:

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

US 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 Lysine (K) at position 494 (E494K, p.Glu494Lys). 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 large size and basic (K) 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
Variant description:

In SEMDSP; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs775551492 [ dbSNP | Ensembl ]

Sequence information Variant position:

494 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1378 The length of the canonical sequence.
Location on the sequence:

AAATAESEALEAGEVELSEG E DDTDGLTPQLEEDEELQGHL 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                         AAATAESEALEAGEVELSEGEDDTDGLTPQLEEDEELQGHL

Mouse                         EEEEEASEAPETSELELSESEDDADGLSQQLEEDEELQGCV

Rat                           EEEEEASEALETSEMELSESEDDADGLSQQLEEEEELQGCV

Bovine                        EDEEDD-DALEATELELSESENEADA-SPPLEEDEELRGCL

Zebrafish                     EDEVDNSEPLEDSDIQYSESDDED------LEGYDKMV--T

Drosophila                    GTAVQQNTPDWDDDFDLATLTDSD---ASDLDETEKPR---

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 – 1378	Tonsoku-like protein
Region	475 – 524	Disordered
Compositional bias	485 – 505	Acidic residues

Literature citations
Bi-allelic variants in TONSL cause sponastrime dysplasia and a spectrum of skeletal dysplasia phenotypes.
Burrage L.C.; Reynolds J.J.; Baratang N.V.; Phillips J.B.; Wegner J.; McFarquhar A.; Higgs M.R.; Christiansen A.E.; Lanza D.G.; Seavitt J.R.; Jain M.; Li X.; Parry D.A.; Raman V.; Chitayat D.; Chinn I.K.; Bertuch A.A.; Karaviti L.; Schlesinger A.E.; Earl D.; Bamshad M.; Savarirayan R.; Doddapaneni H.; Muzny D.; Jhangiani S.N.; Eng C.M.; Gibbs R.A.; Bi W.; Emrick L.; Rosenfeld J.A.; Postlethwait J.; Westerfield M.; Dickinson M.E.; Beaudet A.L.; Ranza E.; Huber C.; Cormier-Daire V.; Shen W.; Mao R.; Heaney J.D.; Orange J.S.; Bertola D.; Yamamoto G.L.; Baratela W.A.R.; Butler M.G.; Ali A.; Adeli M.; Cohn D.H.; Krakow D.; Jackson A.P.; Lees M.; Offiah A.C.; Carlston C.M.; Carey J.C.; Stewart G.S.; Bacino C.A.; Campeau P.M.; Lee B.;
Am. J. Hum. Genet. 104:422-438(2019)
Cited for: VARIANTS SEMDSP 110-TRP--LEU-1378 DEL; 154-GLN--LEU-1378 DEL; LYS-199; LYS-487; LYS-494; LEU-613; MET-653; 713-GLN--LEU-1378 DEL; 803-GLN--LEU-1378 DEL; TRP-934 AND PRO-1197; INVOLVEMENT IN SEMDSP;

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.