UniProtKB/Swiss-Prot Q92574: Variant p.Leu978Val

Hamartin
Gene: TSC1
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Variant information Variant position:

978 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Valine (V) at position 978 (L978V, p.Leu978Val). 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:

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:

In TSC1; uncertain significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs397514859 [ dbSNP | Ensembl ]

Sequence information Variant position:

978 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:

FELEILDLYGRLEKDGLLKK L EEEKAEAAEAAEERLDCCND 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                         FELEILDLYGRLEKDGLLKKLEEEKAEAAEAAEERLDCCND

Mouse                         LELEILDLYGRLEKDGRLRKLEEDRAEAAEAAEERLDCCSD

Rat                           LELEILDLYGRLEKDGRLQKLEEDRAEAAEAAEERLDCCTD

Fission yeast                 YEAKIFDLEKRLSSEANAPELHNPVNLNYDAQLSKISEIKE

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.

Type	Positions	Description
Chain	1 – 1164	Hamartin
Coiled coil	721 – 997
Mutagenesis	958 – 958	F -> A. Abolished interaction with TBC1D7.
Mutagenesis	962 – 962	I -> A. Abolished interaction with TBC1D7.
Helix	975 – 991

Literature citations
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.