Variant position: 386 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 433 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 LQDLLHEALQDYELSQRHEE PWRTGK----LLLTLPL-LRQTAAKA
Mouse LQDLLHEALQDYELSQRHEE PRRAGK----LLLTLPL-LRQ
Rat LQDLLHEALQDYELSQRHEE PRRAGK----LLLTLPL-LRQ
Baker's yeast LTESIEAANQAFDAGWGVMI SHRSGETEDPFIADLVVGLRC
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 – 433 Steroid hormone receptor ERR2
208 – 432 NR LBD
203 – 433 Essential for ESRRB transcriptional activity and interaction with NCOA3
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
Collin R.W.J.; Kalay E.; Tariq M.; Peters T.; van der Zwaag B.; Venselaar H.; Oostrik J.; Lee K.; Ahmed Z.M.; Caylan R.; Li Y.; Spierenburg H.A.; Eyupoglu E.; Heister A.; Riazuddin S.; Bahat E.; Ansar M.; Arslan S.; Wollnik B.; Brunner H.G.; Cremers C.W.R.J.; Karaguzel A.; Ahmad W.; Cremers F.P.M.; Vriend G.; Friedman T.B.; Riazuddin S.; Leal S.M.; Kremer H.;
Am. J. Hum. Genet. 82:125-138(2008)
Cited for: VARIANTS DFNB35 VAL-110; PRO-320; LEU-342; PRO-347 AND MET-389; VARIANT SER-386;
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.