UniProtKB/SwissProt variant VAR

Variant information

Variant position:

608

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

Type of variant:

US

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 Glutamine (Q) at position 608 (R608Q, p.Arg608Gln).

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 medium size and polar (Q)

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 and breast cancer.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137852573 [ dbSNP | Ensembl ]

Sequence information

Variant position:

608

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:

AEGKQKYLCASRNDCTIDKF R RKNCPSCRLRKCYEAGMTLG

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                         AEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLG

                              AEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLG

Rhesus macaque                AEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLG

Chimpanzee                    AEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLG

Mouse                         AEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLG

Rat                           AEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLG

Pig                           AEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAGMTLG

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
DNA binding	560 – 632	Nuclear receptor
Zinc finger	596 – 620	NR C4-type
Region	552 – 919	Interaction with LPXN
Region	572 – 662	Interaction with HIPK3
Region	592 – 919	Interaction with CCAR1

Literature citations

A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.
Wooster R.; Mangion J.; Eeles R.; Smith S.; Dowsett M.; Averill D.; Barrett-Lee P.; Easton D.F.; Ponder B.A.; Stratton M.R.;
Nat. Genet. 2:132-134(1992)
Cited for: VARIANT PAIS/BREAST CANCER GLN-608;

Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
Weidemann W.; Linck B.; Haupt H.; Mentrup B.; Romalo G.; Stockklauser K.; Brinkmann A.O.; Schweikert H.-U.; Spindler K.D.;
Clin. Endocrinol. (Oxf.) 45:733-739(1996)
Cited for: VARIANTS PAIS GLN-608; THR-611; LEU-755; HIS-841; THR-843 AND HIS-856; VARIANT AIS MET-867;

Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor.
Weidemann W.; Peters B.; Romalo G.; Spindler K.D.; Schweikert H.-U.;
J. Clin. Endocrinol. Metab. 83:1173-1176(1998)
Cited for: VARIANT PAIS GLN-608;

Androgen receptor gene mutations in 46,XY females with germ cell tumours.
Chen C.P.; Chern S.R.; Wang T.Y.; Wang W.; Wang K.L.; Jeng C.J.;
Hum. Reprod. 14:664-670(1999)
Cited for: VARIANT PAIS GLN-608; VARIANT AIS LYS-682;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Arg608Gln