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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29084: Variant p.Ala150Pro

Transcription initiation factor IIE subunit beta
Gene: GTF2E2
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Variant information Variant position: help 150 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 Alanine (A) to Proline (P) at position 150 (A150P, p.Ala150Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 150 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 291 The length of the canonical sequence.
Location on the sequence: help IEVIDGKYAFKPKYNVRDKK A LLRLLDQHDQRGLGGILLED 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                         I--EVIDGKYAFKPKYNVRDKKALLRLLDQHDQRGLGGILLED

Mouse                         I--EVVDGKYAFKPKYNLKDKKALLRLLDNHDQRGLGGILL

Bovine                        I--EVVDGKYAFKPKYNLKDKKALLRLLDQHDQRGLGGILL

Xenopus laevis                I--EIIDGKYAFKPKYNLKDKKALLRLLDKHDQRGLGGILL

Slime mold                    I-IDHGNDRFSFKPKFNVRTQRDILDLLPNYP----GGILV

Baker's yeast                 IEFDPKKGTFKYLSTYDVHSPSELLKLLRS--QVTFKGISC

Fission yeast                 IYYDERNETFTFKPLHNIRSGAGLLAYLDS--QKTHVGMSI
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 – 291 Transcription initiation factor IIE subunit beta
Helix 148 – 161



Literature citations
GTF2E2 mutations destabilize the general transcription factor complex TFIIE in individuals with DNA repair-proficient trichothiodystrophy.
Kuschal C.; Botta E.; Orioli D.; Digiovanna J.J.; Seneca S.; Keymolen K.; Tamura D.; Heller E.; Khan S.G.; Caligiuri G.; Lanzafame M.; Nardo T.; Ricotti R.; Peverali F.A.; Stephens R.; Zhao Y.; Lehmann A.R.; Baranello L.; Levens D.; Kraemer K.H.; Stefanini M.;
Am. J. Hum. Genet. 98:627-642(2016)
Cited for: INVOLVEMENT IN TTD6; VARIANTS TTD6 PRO-150 AND TYR-187; CHARACTERIZATION OF VARIANTS TTD6 PRO-150 AND TYR-187;
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.