Variant position: 249 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 437 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 VTVAEVQRRLSPPECLNASL LGGVLRRAKSKNGGRSLREKL
Mouse VTVAEVQRRLSPPECLNASL LGGVLRRAKSKNGGRSLREKL
Rat VTVAEVQRRLSSPECLNASL LGGVLRRAKSKNGGRSLREKL
Bovine VTVAEVQRRLSPPECLNASL LGGVLRRAKSKNGGRSLREKL
Sheep VTVAEVQRRLSPPECLNASL LGGVLRRAKSKNGGRSLREKL
Drosophila -VSEEVWYRVIQIVINREEV QGYAAKTVFEALQAPACHENM
Baker's yeast INDDEIWQRLCQIVVNNPSL HRITCERLVDYLCKKQASEAI
Fission yeast -ADDGVWHQLVHVIVNNEEI QEYATKRLFSLLQSETIHECL
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 – 437 Transcription factor AP-2-alpha
239 – 239 Phosphoserine; by PKA
239 – 239 S -> A. No phosphorylation.
TFAP2A mutations result in branchio-oculo-facial syndrome.
Milunsky J.M.; Maher T.A.; Zhao G.; Roberts A.E.; Stalker H.J.; Zori R.T.; Burch M.N.; Clemens M.; Mulliken J.B.; Smith R.; Lin A.E.;
Am. J. Hum. Genet. 82:1171-1177(2008)
Cited for: VARIANTS BOFS PRO-249; GLY-254; GLY-255 AND GLU-262;
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