UniProtKB/Swiss-Prot P62508: Variant p.Thr50Met

Estrogen-related receptor gamma
Gene: ESRRG
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Variant information Variant position:

50 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 Threonine (T) to Methionine (M) at position 50 (T50M, p.Thr50Met). 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 polar (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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
Other resources:

Links to websites of interest for the variant.

Variant rs11572693 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HIDSSCSSFIKTEPSSPASL T DSVNHHSPGGSSDASGSYSS 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                         HIDSSCSSFIKTEPSSPASLTDSVNHHSPGGSSDASGSYSS

Mouse                         HIDSSCSSFIKTEPSSPASLTDSVNHHSPGGSSDASGSYSS

Rat                           HIDSSCSSFIKTEPSSPASLTDSVNHHSPGGSSDASGSYSS

Baker's yeast                 ------GLFRAIVPSGASTGIHEAVELRDGNKSEWMGKGVT

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 – 458	Estrogen-related receptor gamma
Region	42 – 85	Disordered
Compositional bias	42 – 80	Polar residues
Modified residue	45 – 45	Phosphoserine
Cross	40 – 40	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Mutagenesis	38 – 38	F -> AE. No effect on transcriptional activity.
Mutagenesis	39 – 39	I -> A. 4-fold increase in transcriptional activity.
Mutagenesis	40 – 40	K -> R. Abolishes sumoylation. 7-fold increase in transcriptional activity.
Mutagenesis	41 – 41	T -> A. No effect on transcriptional activity.
Mutagenesis	42 – 42	E -> A. 4-fold increase in transcriptional activity.
Mutagenesis	44 – 44	S -> AE. No effect on transcriptional activity.
Mutagenesis	45 – 45	S -> A. Abolishes sumoylation. Increased transcriptional activity.
Mutagenesis	45 – 45	S -> D. No change in sumoylation nor transcriptional activity.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT MET-50;

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.