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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36897: Variant p.Thr200Ile

TGF-beta receptor type-1
Gene: TGFBR1
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Variant information Variant position: help 200 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 Threonine (T) to Isoleucine (I) at position 200 (T200I, p.Thr200Ile). 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 (T) to medium size and hydrophobic (I) 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 LDS1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 200 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 503 The length of the canonical sequence.
Location on the sequence: help LIYDMTTSGSGSGLPLLVQR T IARTIVLQESIGKGRFGEVW 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                         LIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVW

Mouse                         LIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVW

Rat                           LIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVW

Pig                           LIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVW

Bovine                        LIYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVW
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 34 – 503 TGF-beta receptor type-1
Topological domain 148 – 503 Cytoplasmic
Domain 175 – 204 GS
Modified residue 185 – 185 Phosphothreonine; by TGFBR2
Modified residue 186 – 186 Phosphothreonine; by TGFBR2
Modified residue 187 – 187 Phosphoserine; by TGFBR2
Modified residue 189 – 189 Phosphoserine; by TGFBR2
Modified residue 191 – 191 Phosphoserine; by TGFBR2
Mutagenesis 187 – 187 S -> A. Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-189 and A-191.
Mutagenesis 189 – 189 S -> A. Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-187 and A-191.
Mutagenesis 191 – 191 S -> A. Loss of threonine phosphorylation, reduced phosphorylation on serine residues and loss of response to TGF-beta; when associated with 185-VV-186; A-187 and A-189.
Mutagenesis 193 – 193 L -> G. Loss of interaction with FKBP1A.
Mutagenesis 194 – 194 P -> K. Loss of interaction with FKBP1A.
Mutagenesis 200 – 200 T -> D. Loss of response to TGF-beta.
Mutagenesis 200 – 200 T -> V. Loss of phosphorylation. Loss of response to TGF-beta.
Mutagenesis 204 – 204 T -> D. Constitutive activation.
Mutagenesis 204 – 204 T -> V. Reduced phosphorylation. Reduced response to TGF-beta.



Literature citations
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Loeys B.L.; Chen J.; Neptune E.R.; Judge D.P.; Podowski M.; Holm T.; Meyers J.; Leitch C.C.; Katsanis N.; Sharifi N.; Xu F.L.; Myers L.A.; Spevak P.J.; Cameron D.E.; De Backer J.F.; Hellemans J.; Chen Y.; Davis E.C.; Webb C.L.; Kress W.; Coucke P.J.; Rifkin D.B.; De Paepe A.M.; Dietz H.C.;
Nat. Genet. 37:275-281(2005)
Cited for: VARIANTS LDS1 ILE-200; ARG-318; GLY-400 AND PRO-487;
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.