Variant position: 1974 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 QQ--HTGPAGTMVPPSYSSQPY QST---HPST--NPTLVDPT----RHL----------QQR
Chimpanzee QQ--HTGPAGTMVPPSYSSQPY QST---HPST--NPTLVDP
Mouse QQ--HTGPAGTMVPPSYSSQPY QST---HPST--NPTLVDP
Zebrafish QP--HPSQTPGMVPNSYGNQGF QTG---HPAT--NPTMVDS
Caenorhabditis elegans PGPIQTGQSTQQQIPAQSQQQY NSG---RPQMHTTPTKNDM
Drosophila PQ--QNAQQQQMNPNQQQQQQF MRGGNMRPGM--APNQMNQ
Slime mold PQ-----QLQQQKPQTQQQQQQ QQQ---QQQQQQQQQQQQQ
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
1900 – 2168 Gln-rich
1994 – 1994 Asymmetric dimethylarginine
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
Bouazzi H.; Lesca G.; Trujillo C.; Alwasiyah M.K.; Munnich A.;
Clin. Case Rep. 3:604-609(2015)
Cited for: VARIANT HIS-1974;
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