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UniProtKB/Swiss-Prot Q92574: Variant p.Glu577Asp

Hamartin
Gene: TSC1
Variant information

Variant position:  577
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Glutamate (E) to Aspartate (D) at position 577 (E577D, p.Glu577Asp).
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 acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

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



Sequence information

Variant position:  577
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:   LPCGSADESPAGDRECQTSL  E TSIFTPSPCKIPPPTRVGFG
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                         LP-CGSADESPAGDRECQTSLETSIFTPSPCKIPPPTRVGFG

Mouse                         PP-SGSADVSPAGDRDRQTSLETSILTPSPCKIPPQRGVSF

Rat                           PP-SGSADASPAGDRDRQTSLETSILTPSPCKIPPQRGVSF

Fission yeast                 PSISGSVHSATTFDKAQLSNTEDS-----------------

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
Region 403 – 787 Mediates interaction with WDR45B


Literature citations

Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
Yamashita Y.; Ono J.; Okada S.; Wataya-Kaneda M.; Yoshikawa K.; Nishizawa M.; Hirayama Y.; Kobayashi E.; Seyama K.; Hino O.;
Am. J. Med. Genet. 90:123-126(2000)
Cited for: VARIANTS THR-322; ILE-417; ASP-577 AND ARG-829;

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.