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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99593: Variant p.Pro132Ser

T-box transcription factor TBX5
Gene: TBX5
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Variant information Variant position: help 132
Type of variant: help US
Residue change: help From Proline (P) to Serine (S) at position 132 (P132S, p.Pro132Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help Found in a patient with atrial fibrillation; uncertain significance; reduces transcriptional activity; affects transcriptional regulation of NKX2-5.


Sequence information Variant position: help 132
Protein sequence length: help 518
Location on the sequence: help HRYKFADNKWSVTGKAEPAM P GRLYVHPDSPATGAHWMRQL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 518 T-box transcription factor TBX5
DNA binding 58 – 238 T-box



Literature citations
TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.
Guo D.F.; Li R.G.; Yuan F.; Shi H.Y.; Hou X.M.; Qu X.K.; Xu Y.J.; Zhang M.; Liu X.; Jiang J.Q.; Yang Y.Q.; Qiu X.B.;
Mol. Med. Report. 13:4349-4356(2016)
Cited for: VARIANT SER-132; INVOLVEMENT IN AF; CHARACTERIZATION OF VARIANT SER-132; FUNCTION;
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.