Variant position: 255 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 QRRLSPPECLNASLLGGVLR RAKSKNGGRSLREKLDKIGL-------N
Mouse QRRLSPPECLNASLLGGVLR RAKSKNGGRSLREKLDKIGL-
Rat QRRLSSPECLNASLLGGVLR RAKSKNGGRSLREKLDKIGL-
Bovine QRRLSPPECLNASLLGGVLR RAKSKNGGRSLREKLDKIGL-
Sheep QRRLSPPECLNASLLGGVLR RAKSKNGGRSLREKLDKIGL-
Drosophila WYRVIQIVINREEVQGYAAK TVFEALQAPACHENMVKVGGY
Baker's yeast WQRLCQIVVNNPSLHRITCE RLVDYLCKKQASEAIIKAAAF
Fission yeast WHQLVHVIVNNEEIQEYATK RLFSLLQSETIHECLVKAGGY
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;
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.