UniProtKB/Swiss-Prot O43435: Variant p.His194Gln

T-box transcription factor TBX1
Gene: TBX1
Chromosomal location: 22q11.21
Variant information

Variant position:  194
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Histidine (H) to Glutamine (Q) at position 194 (H194Q, p.His194Gln).
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:  Similar physico-chemical property. Both residues are medium size and polar.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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 VCFS.
Any additional useful information about the variant.



Sequence information

Variant position:  194
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  398
The length of the canonical sequence.

Location on the sequence:   FHSSSWLVAGKADPATPGRV  H YHPDSPAKGAQWMKQIVSFD
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                         FHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFD

Mouse                         FHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFD

Xenopus tropicalis            FHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFD

Zebrafish                     FHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFD

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 – 398 T-box transcription factor TBX1
DNA binding 119 – 297 T-box


Literature citations

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
Zweier C.; Sticht H.; Aydin-Yaylagul I.; Campbell C.E.; Rauch A.;
Am. J. Hum. Genet. 80:510-517(2007)
Cited for: VARIANT VCFS GLN-194;

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.