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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36897: Variant p.Ser241Leu

TGF-beta receptor type-1
Gene: TGFBR1
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Variant information Variant position: help 241 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 Serine (S) to Leucine (L) at position 241 (S241L, p.Ser241Leu). 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 polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 241 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 RGKWRGEEVAVKIFSSREER S WFREAEIYQTVMLRHENILG 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                         RGKWRGEEVAVKIFSSREERSWFREAEIYQTVMLRHENILG

Mouse                         RGKWRGEEVAVKIFSSREERSWFREAEIYQTVMLRHENILG

Rat                           RGKWRGEEVAVKIFSSREERSWFREAEIYQTVMLRHENILG

Pig                           RGKWRGEEVAVKIFSSREERSWFREAEIYQTVMLRHENILG

Bovine                        RGKWRGEEVAVKIFSSREERSWFREAEIYQTVMLRHENILG
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 205 – 495 Protein kinase
Binding site 232 – 232
Helix 239 – 249



Literature citations
FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
Ades L.C.; Sullivan K.; Biggin A.; Haan E.A.; Brett M.; Holman K.J.; Dixon J.; Robertson S.; Holmes A.D.; Rogers J.; Bennetts B.;
Am. J. Med. Genet. A 140:1047-1058(2006)
Cited for: VARIANT LDS1 LEU-241; Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
Matyas G.; Arnold E.; Carrel T.; Baumgartner D.; Boileau C.; Berger W.; Steinmann B.;
Hum. Mutat. 27:760-769(2006)
Cited for: VARIANTS LDS1 LEU-241 AND GLN-487; VARIANT HIS-267;
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.