Variant position: 218 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 413 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 PCEARECVNCGATATPLWRR DRTGHYLCNACGLYHKMNGQN
Mouse PCEARECVNCGATATPLWRR DRTGHYLCNACGLYHKMNGQN
Rat PCEARECVNCGATATPLWRR DRTGHYLCNACGLYHKMNGQN
Bovine PIKAPESVSTIITAESIFYK -----------GVYYQI-GDV
Chicken PCEARECVNCGATATPLWRR DGTGHYLCNACGLYHRLNGQN
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 – 413 Erythroid transcription factor
204 – 228 GATA-type 1
200 – 330 Interaction with MED1 and CCAR1
203 – 222 Required for interaction with ZFPM1
233 – 233 N6-acetyllysine; by EP300
204 – 204 C -> R. Increase of dissociation rate from bound DNA.
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.
Freson K.; Matthijs G.; Thys C.; Marieen P.; Hoylaerts M.F.; Vermylen J.; Van Geet C.;
Hum. Mol. Genet. 11:147-152(2002)
Cited for: VARIANT XDAT TYR-218; INTERACTION WITH ZFPM1; CHARACTERIZATION OF VARIANT XDAT TYR-218;
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.