UniProtKB/SwissProt variant VAR

Variant information

Variant position:

781

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 Methionine (M) to Isoleucine (I) at position 781 (M781I, p.Met781Ile).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

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 AIS.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137852589 [ dbSNP | Ensembl ]

Sequence information

Variant position:

781

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:

RMLYFAPDLVFNEYRMHKSR M YSQCVRMRHLSQEFGWLQIT

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                         RMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQIT

                              RMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQIT

Rhesus macaque                RMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQIT

Chimpanzee                    RMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQIT

Mouse                         RMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQIT

Rat                           RMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQIT

Pig                           RMLYFAPDLVFNEYRMHKSRMYSQCVRMRHLSQEFGWLQIT

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
Alternative sequence	645 – 920	Missing. In isoform 3.
Alternative sequence	649 – 920	Missing. In isoform 4.

Literature citations

Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.
Bevan C.L.; Brown B.B.; Davies H.R.; Evans B.A.J.; Hughes I.A.; Patterson M.N.;
Hum. Mol. Genet. 5:265-273(1996)
Cited for: VARIANTS PAIS ILE-743; ILE-781; GLU-799; CYS-841; HIS-856 AND MET-870;

Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
Rodien P.; Mebarki F.; Mowszowicz I.; Chaussain J.L.; Young J.; Morel Y.; Schaison G.;
J. Clin. Endocrinol. Metab. 81:2994-2998(1996)
Cited for: VARIANT AIS ILE-781;

Mutations of the androgen receptor gene in patients with complete androgen insensitivity.
Jakubiczka S.; Nedel S.; Werder E.A.; Schleiermacher E.; Theile U.; Wolff G.; Wieacker P.;
Hum. Mutat. 9:57-61(1997)
Cited for: VARIANTS AIS VAL-750; CYS-775; ILE-781 AND SER-795;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10275: Variant p.Met781Ile