UniProtKB/Swiss-Prot Q92574: Variant p.Lys587Arg

Hamartin
Gene: TSC1
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Variant information Variant position:

587 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 Lysine (K) to Arginine (R) at position 587 (K587R, p.Lys587Arg). 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 large size and basic. 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.

Variant rs118203576 [ dbSNP | Ensembl ]

Sequence information Variant position:

587 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:

AGDRECQTSLETSIFTPSPC K IPPPTRVGFGSGQPPPYDHL 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                         AGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQPPPYDHL

Mouse                         AGDRDRQTSLETSILTPSPCKIPPQRGVSFGSGQLPPYDHL

Rat                           AGDRDRQTSLETSILTPSPCKIPPQRGVSFGSGQLPPYDHL

Fission yeast                 TFDKAQLSNTEDS------------------------YDNI

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
Region	403 – 787	Mediates interaction with WDR45B
Modified residue	598 – 598	Phosphoserine

Literature citations
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
van Slegtenhorst M.A.; de Hoogt R.; Hermans C.; Nellist M.; Janssen B.; Verhoef S.; Lindhout D.; van den Ouweland A.M.W.; Halley D.J.J.; Young J.; Burley M.; Jeremiah S.; Woodward K.; Nahmias J.; Fox M.; Ekong R.; Osborne J.; Wolfe J.; Povey S.; Snell R.G.; Cheadle J.P.; Jones A.C.; Tachataki M.; Ravine D.; Sampson J.R.; Reeve M.P.; Richardson P.; Wilmer F.; Munro C.; Hawkins T.L.; Sepp T.; Ali J.B.M.; Ward S.; Green A.J.; Yates J.R.W.; Kwiatkowska J.; Henske E.P.; Short M.P.; Haines J.H.; Jozwiak S.; Kwiatkowski D.J.;
Science 277:805-808(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; TISSUE SPECIFICITY; VARIANT ARG-587; Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
Kwiatkowska J.; Jozwiak S.; Hall F.; Henske E.P.; Haines J.L.; McNamara P.; Braiser J.; Wigowska-Sowinska J.; Kasprzyk-Obara J.; Short M.P.; Kwiatkowski D.J.;
Ann. Hum. Genet. 62:277-285(1998)
Cited for: VARIANTS THR-322; ARG-587; TYR-732; SER-1035 AND SER-1108;

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.