UniProtKB/SwissProt variant VAR

Variant information

Variant position:

841

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

Type of variant:

LP/P [Disclaimer]

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 Arginine (R) to Serine (S) at position 841 (R841S, p.Arg841Ser).

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

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

Variant description:

In PAIS.

Any additional useful information about the variant.

Sequence information

Variant position:

841

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

Protein sequence length:

920

The length of the canonical sequence.

Location on the sequence:

GLKNQKFFDELRMNYIKELD R IIACKRKNPTSCSRRFYQLT

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                         GLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLT

                              GLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLT

Rhesus macaque                GLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLT

Chimpanzee                    GLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLT

Mouse                         GLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLT

Rat                           GLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLT

Pig                           GLKNQKFFDELRMNYIKELDRIIACKRKNPTSCSRRFYQLT

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 – 920	Androgen receptor
Domain	669 – 900	NR LBD
Region	552 – 919	Interaction with LPXN
Region	592 – 919	Interaction with CCAR1
Region	625 – 919	Interaction with KAT7
Cross	846 – 846	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross	848 – 848	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence	645 – 920	Missing. In isoform 3.
Alternative sequence	649 – 920	Missing. In isoform 4.
Mutagenesis	846 – 846	K -> R. Prevents ubiquitination by RNF6. Prevents AR transcriptional activation by RNF14 in absence of hormone.
Mutagenesis	848 – 848	K -> R. Partially prevents ubiquitination by RNF6.
Helix	825 – 843

Literature citations

A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.
Melo K.F.S.; Latronico A.C.; Costa E.M.F.; Billerbeck A.E.C.; Mendonca B.B.; Arnhold I.J.P.;
Hum. Mutat. 14:353-353(1999)
Cited for: VARIANT PAIS SER-841;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Arg841Ser