UniProtKB/Swiss-Prot P08235: Variant p.Val241Ala

Mineralocorticoid receptor
Gene: NR3C2
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Variant information Variant position:

241 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 Valine (V) to Alanine (A) at position 241 (V241A, p.Val241Ala). 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 (V) to small size and hydrophobic (A) 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
Variant description:

Changed mineralocorticoid receptor activity; changed response curve to aldosterone stimulation. Any additional useful information about the variant.

Sequence information Variant position:

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

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

GSFPVHSPITQGTPLTCSPN V ENRGSRSHSPAHASNVGSPL 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                         GSFPVHSPITQGTPLTCSPNVENRGSRSHSPAHASNVGSPL

Mouse                         GSFPVHSPITQGTSLTCSPSVENRGSRSHSPVHASNVGSPL

Rat                           GSFPVHSPITQGTSLTCSPSVENRGSRSHSPTHASNVGSPL

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 – 984	Mineralocorticoid receptor
Region	1 – 602	Modulating
Region	231 – 329	Disordered
Modified residue	250 – 250	Phosphoserine
Modified residue	259 – 259	Phosphoserine

Literature citations
Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor.
Arriza J.L.; Weinberger C.; Cerelli G.; Glaser T.M.; Handelin B.L.; Housman D.E.; Evans R.M.;
Science 237:268-275(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; VARIANTS ILE-180 AND ALA-241; A new human MR splice variant is a ligand-independent transactivator modulating corticosteroid action.
Zennaro M.-C.; Souque A.; Viengchareun S.; Poisson E.; Lombes M.;
Mol. Endocrinol. 15:1586-1598(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4); TISSUE SPECIFICITY; INTERACTION WITH NCOA1; TIF1 AND NRIP1; VARIANTS ILE-180 AND ALA-241; Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism.
Arai K.; Nakagomi Y.; Iketani M.; Shimura Y.; Amemiya S.; Ohyama K.; Shibasaki T.;
Hum. Genet. 112:91-97(2003)
Cited for: CHARACTERIZATION OF VARIANTS ILE-180 AND ALA-241;

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.