UniProtKB/SwissProt variant VAR

Variant information

Variant position:

201

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 Alanine (A) to Valine (V) at position 201 (A201V, p.Ala201Val).

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 hydrophobic (A) to medium size and hydrophobic (V)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 rs6425977 [ dbSNP | Ensembl ]

Sequence information

Variant position:

201

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

Protein sequence length:

955

The length of the canonical sequence.

Location on the sequence:

KSSSKDSRPSQAAGDNQGDE A KEQTFSGGTSQDTKASESSK

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                         KSSSKDSRPSQAAGDNQGDEAKEQTFSGGTSQDTKASESSK

Mouse                         KSSSKDSRPSQAAGDNQGDEAKEQTFSGGTSQDIKGSESSK

Rat                           KSSSKDSRPSQAAGDNQGDEAKEQTFSGGTSQDIKGSESSK

Xenopus laevis                KSSSKDSRPSQAAGDNQGDEAKEQTFSGGTSQDIKGSESSK

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	2 – 955	Thyroid hormone receptor-associated protein 3
Region	117 – 559	Disordered
Compositional bias	187 – 241	Polar residues
Modified residue	220 – 220	Phosphoserine
Modified residue	221 – 221	N6-acetyllysine; alternate
Cross	202 – 202	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross	202 – 202	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Cross	215 – 215	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross	221 – 221	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate

Literature citations

Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators.
Ito M.; Yuan C.-X.; Malik S.; Gu W.; Fondell J.D.; Yamamura S.; Fu Z.-Y.; Zhang X.; Qin J.; Roeder R.G.;
Mol. Cell 3:361-370(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 490-500; TISSUE SPECIFICITY; IDENTIFICATION IN TRAP COMPLEX; VARIANT VAL-201;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT VAL-201;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT VAL-201;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y2W1: Variant p.Ala201Val