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 HIDSSCSSFIKTEPSSPASLT DSVNHHSPGGSSDASGSYSS
Mouse HIDSSCSSFIKTEPSSPASLT DSVNHHSPGGSSDASGSYSS
Rat HIDSSCSSFIKTEPSSPASLT DSVNHHSPGGSSDASGSYSS
Baker's yeast ------GLFRAIVPSGASTGI HEAVELRDGNKSEWMGKGVT
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.