UniProtKB/Swiss-Prot Q92574: Variant p.His732Tyr

Hamartin
Gene: TSC1
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Variant information Variant position:

732 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 Histidine (H) to Tyrosine (Y) at position 732 (H732Y, p.His732Tyr). 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:

Change from medium size and polar (H) to large size and aromatic (Y) 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 rs118203657 [ dbSNP | Ensembl ]

Sequence information Variant position:

732 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:

HALRNRRLLRKVIKAAALEE H NAAMKDQLKLQEKDIQMWKV 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                         HALRNRRLLRKVIKAAALEEHNAAMKDQLKLQEKDIQMWKV

Mouse                         HALRNRRLLRKVIRAAALEEHNAAMKDQLKLQEKDIQMWKV

Rat                           HALRNRRLLRKVIRAAALEEHNAAMKDQLKLQEKDIQMWKV

Fission yeast                 HLQNIGKLHREHILDMAVESERQKLLLTNKRYKAQIELLNS

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
Coiled coil	721 – 997

Literature citations
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones A.C.; Daniells C.E.; Snell R.G.; Tachataki M.; Idziaszczyk S.A.; Krawczak M.; Sampson J.R.; Cheadle J.P.;
Hum. Mol. Genet. 6:2155-2161(1997)
Cited for: VARIANT TSC1 GLU-726; VARIANTS THR-322; TYR-732 AND SER-1035; 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; Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Niida Y.; Lawrence-Smith N.; Banwell A.; Hammer E.; Lewis J.; Beauchamp R.L.; Sims K.; Ramesh V.; Ozelius L.;
Hum. Mutat. 14:412-422(1999)
Cited for: VARIANTS THR-322; TYR-732 AND GLN-809; Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
Becker A.J.; Urbach H.; Scheffler B.; Baden T.; Normann S.; Lahl R.; Pannek H.W.; Tuxhorn I.; Elger C.E.; Schramm J.; Wiestler O.D.; Bluemcke I.;
Ann. Neurol. 52:29-37(2002)
Cited for: VARIANT TYR-732;

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.