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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15170: Variant p.Cys90Tyr

Transcription elongation factor A protein-like 1
Gene: TCEAL1
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Variant information Variant position: help 90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Cysteine (C) to Tyrosine (Y) at position 90 (C90Y, p.Cys90Tyr). 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: help Change from medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In HIJRS. Any additional useful information about the variant.


Sequence information Variant position: help 90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 159 The length of the canonical sequence.
Location on the sequence: help QEGLSRKDLFEGRPPMEQPP C GVGKHKLEEGSFKERLARSR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         QEGLSRKDLFEGRPPMEQPPCGVGKHKLEEGSFKERLARSR

Gorilla                       QEGLSRKDLFEGRPPMEQPPCGVGKHKLEEGSFKERLARSR

Rhesus macaque                QEGLSRKDLFEGRPPMEQPPCGVGKHKLEEGSFKERLARSR

Mouse                         QECLSQKNQFEDRIPMEQPPCGVGKHKLEEGSFKERLARIR

Rat                           QECLPQKNAFEDRIPMEQPPCGIGKHKLEEGSFKERLARSR

Bovine                        QERLSRKDLFEARPPMEQPPCGVGKHKLEEGSFKERLARSR
Sequence annotation in neighborhood: help 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 – 159 Transcription elongation factor A protein-like 1
Region 1 – 97 Disordered



Literature citations
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hijazi H.; Reis L.M.; Pehlivan D.; Bernstein J.A.; Muriello M.; Syverson E.; Bonner D.; Estiar M.A.; Gan-Or Z.; Rouleau G.A.; Lyulcheva E.; Greenhalgh L.; Tessarech M.; Colin E.; Guichet A.; Bonneau D.; van Jaarsveld R.H.; Lachmeijer A.M.A.; Ruaud L.; Levy J.; Tabet A.C.; Ploski R.; Rydzanicz M.; Kepczynski L.; Polatynska K.; Li Y.; Fatih J.M.; Marafi D.; Rosenfeld J.A.; Coban-Akdemir Z.; Bi W.; Gibbs R.A.; Hobson G.M.; Hunter J.V.; Carvalho C.M.B.; Posey J.E.; Semina E.V.; Lupski J.R.;
Am. J. Hum. Genet. 109:2270-2282(2022)
Cited for: VARIANTS HIJRS 87-GLN--ILE-159 DEL; TYR-90; ASN-116 AND 149-TRP--ILE-159 DEL; INVOLVEMENT IN HIJRS;
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.