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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49815: Variant p.Ser1653Phe

Tuberin
Gene: TSC2
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Variant information Variant position: help 1653 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 Phenylalanine (F) at position 1653 (S1653F, p.Ser1653Phe). 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 large size and aromatic (F) 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 TSC2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1653 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1807 The length of the canonical sequence.
Location on the sequence: help HRCDKKRHLGNDFVSIVYND S GEDFKLGTIKGQFNFVHVIV 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                         HRCD-KKRHLGNDFVSIVYNDSGEDFKLGTIK-GQFNFVHVIV

Mouse                         HRCD-KKRHLGNDFVSIIYNDSGEDFKLGTIKQGQFNFVHV

Rat                           HRCD-KKRHLGNDFVSIIYNDSGEDFKLGTIK-GQFNFVHV

Fission yeast                 PGCTLKKRHIGNDFVTIIFNESGLEYDFDTIP-SQFNFVNI
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 – 1807 Tuberin
Domain 1531 – 1758 Rap-GAP
Alternative sequence 240 – 1807 Missing. In isoform 8.
Mutagenesis 1638 – 1638 K -> A. Decreased GTPase-activating protein activity.
Mutagenesis 1639 – 1639 R -> A. Decreased GTPase-activating protein activity.
Mutagenesis 1666 – 1666 F -> A. Decreased GTPase-activating protein activity.



Literature citations
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
Feng J.-H.; Yamamoto T.; Nanba E.; Ninomiya H.; Oka A.; Ohno K.;
Hum. Mutat. 23:397-397(2004)
Cited for: VARIANTS TSC2 SER-1651; PHE-1653; LEU-1675 AND 1746-HIS--ARG-1751 DEL; VARIANTS THR-607; VAL-862; SER-1429 AND ARG-1450;
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.