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UniProtKB/Swiss-Prot Q92574: Variant p.Leu117Pro

Hamartin
Gene: TSC1
Variant information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Leucine (L) to Proline (P) at position 117 (L117P, p.Leu117Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  In TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1164
The length of the canonical sequence.

Location on the sequence:   IRLQPSWKHKLSQAPLLPSL  L KCLKMDTDVVVLTTGVLVLI
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         IRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLI

Mouse                         VRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLI

Rat                           VRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLI

Fission yeast                 RQAVGEWWDQIF-FPFLNSPTQLKPVFSDLKSILFYILIFH

Sequence annotation in neighborhood:  
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
Alternative sequence 70 – 120 Missing. In isoform 2.


Literature citations

Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients.
Woodford M.R.; Sager R.A.; Marris E.; Dunn D.M.; Blanden A.R.; Murphy R.L.; Rensing N.; Shapiro O.; Panaretou B.; Prodromou C.; Loh S.N.; Gutmann D.H.; Bourboulia D.; Bratslavsky G.; Wong M.; Mollapour M.;
EMBO J. 36:3650-3665(2017)
Cited for: FUNCTION; IDENTIFICATION IN A COMPLEX WITH HSP90; HSP70; STIP1; CDC37; PPP5C; PTGES3; TSC2; AKT; CDK4; RAF1 AND NR3C1; INTERACTION WITH HSP90AA1 AND TSC2; VARIANT PRO-117;

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;

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M.; Ekong R.; Povey S.; Karbassi I.; Batish S.D.; den Dunnen J.T.; van Eeghen A.; Thiele E.; Mayer K.; Dies K.; Wen L.; Thompson C.; Sparagana S.P.; Davies P.; Aalfs C.; van den Ouweland A.; Halley D.; Nellist M.;
Hum. Mutat. 33:476-479(2012)
Cited for: VARIANTS TSC1 ARG-61; ILE-126; ASP-132; ILE-133; GLN-336; SER-362; ILE-411; PRO-523; HIS-693; ARG-698; HIS-701; SER-762; GLY-811; THR-883; VAL-978; SER-1043 DEL AND TYR-1146; VARIANTS SER-158; PRO-204; SER-448 AND VAL-567; CHARACTERIZATION OF VARIANTS TSC1 ARG-61; PRO-117; ILE-126; ASP-132; ILE-133; GLN-336; SER-362; ILE-411; PRO-523; HIS-693; ARG-698; HIS-701; SER-762; GLY-811; THR-883; VAL-978; SER-1043 DEL AND TYR-1146; CHARACTERIZATION OF VARIANTS SER-158; PRO-204; SER-448 AND VAL-567;

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.