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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99593: Variant p.Arg237Gln

T-box transcription factor TBX5
Gene: TBX5
Variant information Variant position: help 237 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 Arginine (R) to Glutamine (Q) at position 237 (R237Q, p.Arg237Gln). 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 large size and basic (R) to medium size and polar (Q) 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 HOS; extensive upper limb malformations; affects transcriptional regulation of MYH6. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 237 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 518 The length of the canonical sequence.
Location on the sequence: help YQNHKITQLKIENNPFAKGF R GSDDMELHRMSRMQSKEYPV 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.
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.
Chain 1 – 518 T-box transcription factor TBX5
DNA binding 58 – 238 T-box
Mutagenesis 234 – 234 K -> R. Does not affect acetylation of the protein.

Literature citations
Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome.
Basson C.T.; Bachinsky D.R.; Lin R.C.; Levi T.; Elkins J.A.; Soults J.; Grayzel D.; Kroumpouzou E.; Traill T.A.; Leblanc-Straceski J.; Renault B.; Kucherlapati R.; Seidman J.G.; Seidman C.E.;
Nat. Genet. 15:30-35(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); ALTERNATIVE SPLICING; VARIANT HOS GLN-237; Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
Basson C.T.; Huang T.; Lin R.C.; Bachinksy D.R.; Weremowicz S.; Vaglio A.; Bruzzone R.; Quadrelli R.; Lerone M.; Romeo G.; Silengo M.; Pereira A.; Krieger J.; Mesquita S.F.; Kamisago M.; Morton C.C.; Pierpont M.E.M.; Muller C.W.; Seidman J.G.; Seidman C.E.;
Proc. Natl. Acad. Sci. U.S.A. 96:2919-2924(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS HOS ARG-80; GLN-237 AND TRP-237; Mutation in myosin heavy chain 6 causes atrial septal defect.
Ching Y.-H.; Ghosh T.K.; Cross S.J.; Packham E.A.; Honeyman L.; Loughna S.; Robinson T.E.; Dearlove A.M.; Ribas G.; Bonser A.J.; Thomas N.R.; Scotter A.J.; Caves L.S.D.; Tyrrell G.P.; Newbury-Ecob R.A.; Munnich A.; Bonnet D.; Brook J.D.;
Nat. Genet. 37:423-428(2005)
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.