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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49815: Variant p.Leu1750Phe

Tuberin
Gene: TSC2
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Variant information Variant position: help 1750 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 Leucine (L) to Phenylalanine (F) at position 1750 (L1750F, p.Leu1750Phe). 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 (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 1750 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 SNPTDIYPSKWIARLRHIKR L RQRICEEAAYSNPSLPLVHP 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                         SNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHP

Mouse                         SNPTDIYPSKWIARLRHIKRLRQRIREEVHYSNPSLPLMHP

Rat                           SNPTDIYPSKWIARLRHIKRLRQRIREEVHYSNPSLPLMHP

Fission yeast                 AGD---YVHIWAERLRQLKRLREKFQASVL-----------
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
Modified residue 1764 – 1764 Phosphoserine
Alternative sequence 240 – 1807 Missing. In isoform 8.
Mutagenesis 1745 – 1745 R -> Q. Abolishes GAP activity.
Mutagenesis 1749 – 1751 RLR -> QLQ. No effect.
Mutagenesis 1749 – 1749 R -> A. Decreased GTPase-activating protein activity.



Literature citations
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
Au K.-S.; Rodriguez J.A.; Finch J.L.; Volcik K.A.; Roach E.S.; Delgado M.R.; Rodriguez E. Jr.; Northrup H.;
Am. J. Hum. Genet. 62:286-294(1998)
Cited for: VARIANTS TSC2 PRO-292; GLN-611; TRP-905; GLU-1084; TRP-1200; VAL-1295; CYS-1549; ILE-1643 AND PHE-1750;
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.