Variant position: 961 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 QDQMAQVFEGLCGVVKHGMN RSD---GSSAERCILAYLYDLYTS
Chimpanzee QDQMAQVFEGLCGVVKHGMN RSD---GSSAERCILAYLYDL
Mouse QDQMAQVFEGLCGVVKHGMN RSD---GSSAERCILAYLYDL
Zebrafish PDQTAQVFDGLRIVVKSGVN PAD---CSSAERCILAYLYDL
Caenorhabditis elegans PRACAIVNQ--CFVLIQDMI RADDHMITCWGRTVAIFVFHA
Drosophila PEQTLSVFEGVCRTIRHVSN PSE---CTSAERCIIAYLSDL
Slime mold SNILLGCENGGSGGGGGGGN LSDQDICEEFMKSLISKTIDD
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
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
Risheg H.; Graham J.M. Jr.; Clark R.D.; Rogers R.C.; Opitz J.M.; Moeschler J.B.; Peiffer A.P.; May M.; Joseph S.M.; Jones J.R.; Stevenson R.E.; Schwartz C.E.; Friez M.J.;
Nat. Genet. 39:451-453(2007)
Cited for: VARIANT OKS TRP-961;
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