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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36897: Variant p.Asp351Gly

TGF-beta receptor type-1
Gene: TGFBR1
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Variant information Variant position: help 351 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 Aspartate (D) to Glycine (G) at position 351 (D351G, p.Asp351Gly). 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 acidic (D) to glycine (G) 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.


Sequence information Variant position: help 351 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 HRDLKSKNILVKKNGTCCIA D LGLAVRHDSATDTIDIAPNH 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                         HRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNH

Mouse                         HRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNH

Rat                           HRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNH

Pig                           HRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNH

Bovine                        HRDLKSKNILVKKNGTCCIADLGLAVRHDSATDTIDIAPNH
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
Active site 333 – 333 Proton acceptor



Literature citations
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
Drera B.; Ritelli M.; Zoppi N.; Wischmeijer A.; Gnoli M.; Fattori R.; Calzavara-Pinton P.G.; Barlati S.; Colombi M.;
Orphanet J. Rare Dis. 4:24-24(2009)
Cited for: VARIANT LDS1 GLY-351;
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.