UniProtKB/SwissProt variant VAR

Variant information

Variant position:

829

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 Serine (S) to Arginine (R) at position 829 (S829R, p.Ser829Arg).

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 small size and polar (S) to large size and basic (R)

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

Other resources:

Links to websites of interest for the variant.

Variant rs118203699 [ dbSNP | Ensembl ]

Sequence information

Variant position:

829

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:

ELRIELKKANNKVCHTELLL S QVSQKLSNSESVQQQMEFLN

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                         ELRIELKKANNKVCHTELLLSQVSQKLSNSESVQQQMEFLN

Mouse                         ELRVELKKANNKVCHTELLLSQVSQKLSNSESVQQQMEFLN

Rat                           ELRVELKKANSKVCHTELLLSQVSQKLSNSESVQQQMEFLN

Fission yeast                 QLE-SIRNSQIDIAFSK---NQLELKLQLYETKLKEYE---

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

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92574: Variant p.Ser829Arg