UniProtKB/Swiss-Prot P08235: Variant p.His7Gln

Mineralocorticoid receptor
Gene: NR3C2
Chromosomal location: 4q31.1
Variant information

Variant position:  7
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Histidine (H) to Glutamine (Q) at position 7 (H7Q, p.His7Gln).
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 polar.
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:  In a colorectal cancer sample; somatic mutation.
Any additional useful information about the variant.



Sequence information

Variant position:  7
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:   METKGY  H SLPEGLDMERRWGQVSQAVE
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                         METKGYHSLPEGLDMERRWGQVSQAVE

Mouse                         METKGYHSLPEGLDMERRWSQVSQTLE

Rat                           METKGYHSLPEGLDMERRWSQVSQTLE

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.

TypePositionsDescription
Chain 1 – 984 Mineralocorticoid receptor
Region 1 – 602 Modulating


Literature citations

Mechanistic aspects of mineralocorticoid receptor activation.
Hellal-Levy C.; Fagart J.; Souque A.; Rafestin-Oblin M.-E.;
Kidney Int. 57:1250-1255(2000)
Cited for: MUTAGENESIS OF ASN-770; GLN-776; ARG-817 AND THR-945;

Crystal structure of a mutant mineralocorticoid receptor responsible for hypertension.
Fagart J.; Huyet J.; Pinon G.M.; Rochel M.; Mayer C.; Rafestin-Oblin M.-E.;
Nat. Struct. Mol. Biol. 12:554-555(2005)
Cited for: X-RAY CRYSTALLOGRAPHY (1.96 ANGSTROMS) OF 731-984 OF MUTANT LEU-810 IN COMPLEXES WITH STEROID AGONISTS; CHARACTERIZATION OF VARIANT EOHSEP LEU-810; MUTAGENESIS OF GLN-776 AND ARG-817;

The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-7;

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.