UniProtKB/Swiss-Prot P08235: Variant p.Val180Ile

Mineralocorticoid receptor
Gene: NR3C2
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Variant information Variant position:

180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Isoleucine (I) at position 180 (V180I, p.Val180Ile). 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:

3 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:

Decreased mineralocorticoid receptor activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs5522 [ dbSNP | Ensembl ]

Sequence information Variant position:

180 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:

PLRSFMSDSGSSVNGGVMRA V VKSPIMCHEKSPSVCSPLNM 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                         PLRSFMSDSGSSVNGGVMRAVVKSPIMCHEKSPSVCSPLNM

Mouse                         PLRSFMPDSGTSMNGGALRAIVKSPIICHEKSPSVCSPLNM

Rat                           PLRSFMPDSAASMNGGALRAIVKSPIICHEKSSSVSSPLNM

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

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; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4); VARIANT ILE-180; Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANTS ILE-180; THR-444; GLN-537 AND SER-554; 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.