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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92574: Variant p.Met224Arg

Hamartin
Gene: TSC1
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Variant information Variant position: help 224 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 Methionine (M) to Arginine (R) at position 224 (M224R, p.Met224Arg). 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 hydrophobic (M) to large size and basic (R) 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 TSC1; reduced expression; reduced inhibition of TORC1 signaling. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 224 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1164 The length of the canonical sequence.
Location on the sequence: help RSHYSMKENLETFEEVVKPM M EHVRIHPELVTGSKDHELDP 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                         RSHYSMKENLETFEEVVKPMMEH-VRIHPELVTGSKDHELDP

Mouse                         RSHYSMKENVETFEEVVKPMMEH-VRIHPELVTGSKDHELD

Rat                           RSHYSMKENVETFEEVVKPMMEH-VRIHPELVTGSKDHELD

Fission yeast                 GDVESQEQRNQTIECLVNVLVHYGIQRPKELSSCFCHHFLN
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 1 – 1164 Hamartin



Literature citations
Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
Nellist M.; van den Heuvel D.; Schluep D.; Exalto C.; Goedbloed M.; Maat-Kievit A.; van Essen T.; van Spaendonck-Zwarts K.; Jansen F.; Helderman P.; Bartalini G.; Vierimaa O.; Penttinen M.; van den Ende J.; van den Ouweland A.; Halley D.;
Eur. J. Hum. Genet. 17:319-328(2009)
Cited for: VARIANTS TSC1 PRO-117; VAL-128 DEL; PRO-180; HIS-191; 198-ASN-PHE-199 DELINS ILE; ARG-224; LYS-246; ARG-305 AND TRP-305; VARIANTS GLN-509; SER-1035 AND HIS-1097; CHARACTERIZATION OF VARIANTS TSC1 PRO-117; VAL-128 DEL; PRO-180; HIS-191; 198-ASN-PHE-199 DELINS ILE; ARG-224; LYS-246; ARG-305 AND TRP-305; CHARACTERIZATION OF VARIANTS GLN-509; SER-1035 AND HIS-1097;
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.