Variant position: 1729 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2177 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 RVDRRVARGEEQQRLLLYHT HLRP--RP----RAYYLEPLPLPPEDE
Chimpanzee RVDRRVARGEEQQRLLLYHT HLRP--RP----RAYYLEPLP
Mouse RVDRRVARGEEQQRLLLYHT HLRP--RP----RAYYLEPLP
Zebrafish RVDRKVTKFEEQQRLLLYHT HIKP--KQ----RSYYLAPLN
Caenorhabditis elegans RLDKVAKNVQNVLRSNMHHT HVLEFNRPQLLMSDNMFDDIF
Drosophila KLERKPLTYEEAHRNLKYHT HSLV--KP----SSYYYEPLP
Slime mold -------KLEKQLSFLSTNP TSLP--------FTIIHPPTL
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 – 2177 Mediator of RNA polymerase II transcription subunit 12
1616 – 2051 Interaction with CTNNB1 and GLI3
Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout A.T.; de Vries B.B.; van Bon B.W.; Hoischen A.; Ruiterkamp-Versteeg M.; Gilissen C.; Gao F.; van Zwam M.; Harteveld C.L.; van Essen A.J.; Hamel B.C.; Kleefstra T.; Willemsen M.A.; Yntema H.G.; van Bokhoven H.; Brunner H.G.; Boyer T.G.; de Brouwer A.P.;
Am. J. Hum. Genet. 92:401-406(2013)
Cited for: VARIANTS OHDOX HIS-1148; PRO-1165 AND ASN-1729;
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.