UniProtKB/Swiss-Prot Q92731: Variant p.Leu426Arg

Estrogen receptor beta
Gene: ESR2
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Variant information Variant position:

426 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 Leucine (L) to Arginine (R) at position 426 (L426R, p.Leu426Arg). 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 medium size and hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Found in a patient with a 46,XY disorder of sex development; uncertain significance; shows a higher positive regulation of DNA-binding transcription factor activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1217623435 [ dbSNP | Ensembl ]

Sequence information Variant position:

426 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

530 The length of the canonical sequence.
Location on the sequence:

LNSSMYPLVTATQDADSSRK L AHLLNAVTDALVWVIAKSGI 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                         LNSSMYPLVTATQDADSSRKLAHLLNAVTDALVWVIAKSGI

Mouse                         LNSSMYPLATASQEAESSRKLTHLLNAVTDALVWVISKSGI

Rat                           LNSSMYPLASANQEAESSRKLTHLLNAVTDALVWVIAKSGI

Pig                           LNSSMYPSA-AAQEAESSRKLTHLLNAVTDALVWVIARSGI

Bovine                        LNSSMYPSATAPQEADSGRKLTHLLNAVTDALVWVIAKSGM

Sheep                         LNSSMYPSATASQEADSGRKLTHLLNAVTDALVWVIAKSGM

Chicken                       LNSSMFPL--SPEEPESNRKLHHLLNVVTDALVWVIAKSGI

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 – 530	Estrogen receptor beta
Domain	264 – 498	NR LBD
Alternative sequence	324 – 530	Missing. In isoform 3.
Alternative sequence	376 – 530	Missing. In isoform 8.
Helix	421 – 442

Literature citations
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.
Baetens D.; Gueran T.; Mendonca B.B.; Gomes N.L.; De Cauwer L.; Peelman F.; Verdin H.; Vuylsteke M.; Van der Linden M.; Atay Z.; Bereket A.; de Krijger R.R.; Preter K.; Domenice S.; Turan S.; Stoop H.; Looijenga L.H.; De Bosscher K.; Cools M.; De Baere E.;
Genet. Med. 20:717-727(2018)
Cited for: FUNCTION; VARIANTS VAL-84; ASN-181 DEL AND ARG-426; CHARACTERIZATION OF VARIANTS VAL-84; ASN-181 DEL AND ARG-426;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.