Variant position: 416 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1199 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 KEELDKIVAYELKTGGVLLH PIFGGGKEKDNPAS----------------HLHFSIK
Mouse KEELDKIVAYELKTGGVLLH PIFGGGKEKDNPAS-------
Chicken KQELDQIVAYELKTGGVLLH PIFGGGKEKDNPAS-------
Zebrafish KEELDKIVEYELKIGGVLLH PTFSGGKEKDNPTP-------
Caenorhabditis elegans KRAMDDVCDYEHQWGKIVLS PP-----EPTKKLP-------
Drosophila QSELARVVRYEEQYGGIILD CS-----QPPAPLPVSGTNQS
Baker's yeast KRNSEAIV--EQDFEKPPIG STFT---GSSRPIS-------
Fission yeast KKQVYRLL--ELDIGKPPIS -------QRNINIP-------
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 – 1199 Transcription initiation factor TFIID subunit 2
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.
Hellman-Aharony S.; Smirin-Yosef P.; Halevy A.; Pasmanik-Chor M.; Yeheskel A.; Har-Zahav A.; Maya I.; Straussberg R.; Dahary D.; Haviv A.; Shohat M.; Basel-Vanagaite L.;
Pediatr. Neurol. 49:411-417(2013)
Cited for: VARIANTS MRT40 ARG-186 AND HIS-416;
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