Variant position: 247 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 352 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 EDGARVSPTVGFQVEFLELL FHFHGTLRKLQLQEPEYVLLA
Rhesus macaque EDAARVSPAVGFQVEFLELL FHFHGTLRKLQLQEPEYVLLA
Chimpanzee EDGAR----VGFQVEFLELL FHFHGTLRKLQLQEPEYVLLA
Mouse EDAVH----AGFQYEFLESI LHFHKNLKGLHLQEPEYVLMA
Rat EDAVH----VGFQYEFLELI IHFHKTLKRLQLQEPEYALMA
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 – 352 Nuclear receptor subfamily 1 group I member 3
109 – 352 NR LBD
232 – 274 VSPTVGFQVEFLELLFHFHGTLRKLQLQEPEYVLLAAMALFSP -> APYLT. In isoform 3.
232 – 274 Missing. In isoform 4, isoform 7, isoform 14 and isoform 15.
240 – 255
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Kleefstra T.; Kramer J.M.; Neveling K.; Willemsen M.H.; Koemans T.S.; Vissers L.E.; Wissink-Lindhout W.; Fenckova M.; van den Akker W.M.; Kasri N.N.; Nillesen W.M.; Prescott T.; Clark R.D.; Devriendt K.; van Reeuwijk J.; de Brouwer A.P.; Gilissen C.; Zhou H.; Brunner H.G.; Veltman J.A.; Schenck A.; van Bokhoven H.;
Am. J. Hum. Genet. 91:73-82(2012)
Cited for: VARIANT SER-247;
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.