UniProtKB/SwissProt variant VAR

Variant information

Variant position:

236

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 Arginine (R) to Glycine (G) at position 236 (R236G, p.Arg236Gly).

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 large size and basic (R) to glycine (G)

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:

May confer susceptibility to obesity; reduces the ability to activate melanocortin receptor 4.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs28932472 [ dbSNP | Ensembl ]

Sequence information

Variant position:

236

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

Protein sequence length:

267

The length of the canonical sequence.

Location on the sequence:

KDEGPYRMEHFRWGSPPKDK R YGGFMTSEKSQTPLVTLFKN

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.

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
Peptide	179 – 267	Lipotropin beta
Region	222 – 241	Disordered

Literature citations

Molecular screening of the proopiomelanocortin (POMC) gene in Italian obese children: report of three new mutations.
del Giudice E.M.; Cirillo G.; Santoro N.; D'Urso L.; Carbone M.T.; Toro R.D.; Perrone L.;
Int. J. Obes. Relat. Metab. Disord. 25:61-67(2001)
Cited for: VARIANTS THR-7; LEU-9; GLY-236 AND 97-SER--GLY-99 DEL;

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism.
Challis B.G.; Pritchard L.E.; Creemers J.W.M.; Delplanque J.; Keogh J.M.; Luan J.; Wareham N.J.; Yeo G.S.H.; Bhattacharyya S.; Froguel P.; White A.; Farooqi I.S.; O'Rahilly S.;
Hum. Mol. Genet. 11:1997-2004(2002)
Cited for: VARIANT GLY-236; CHARACTERIZATION OF VARIANT GLY-236; POSSIBLE INVOLVEMENT IN OBESITY;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01189: Variant p.Arg236Gly