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:
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 HIDSSCSSFIKTEPSSPASL TDSVNHHSPGGSSDASGSYSS
Mouse HIDSSCSSFIKTEPSSPASL TDSVNHHSPGGSSDASGSYSS
Rat HIDSSCSSFIKTEPSSPASL TDSVNHHSPGGSSDASGSYSS
Baker's yeast ------GLFRAIVPSGASTG IHEAVELRDGNKSEWMGKGVT
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
1 – 458 Estrogen-related receptor gamma
45 – 45 Phosphoserine
40 – 40 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
38 – 38 F -> AE. No effect on transcriptional activity.
39 – 39 I -> A. 4-fold increase in transcriptional activity.
40 – 40 K -> R. Abolishes sumoylation. 7-fold increase in transcriptional activity.
41 – 41 T -> A. No effect on transcriptional activity.
42 – 42 E -> A. 4-fold increase in transcriptional activity.
44 – 44 S -> AE. No effect on transcriptional activity.
45 – 45 S -> A. Abolishes sumoylation. Increased transcriptional activity.
45 – 45 S -> D. No change in sumoylation nor transcriptional activity.
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT MET-50;
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.