Variant position: 216 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 LPPCEARECVNCGATATPLW RRDRTGHYLCNACGLYHKMNG
Mouse LAPCEARECVNCGATATPLW RRDRTGHYLCNACGLYHKMNG
Rat LAPCEARECVNCGATATPLW RRDRTGHYLCNACGLYHKMNG
Bovine KNPIKAPESVSTIITAESIF YK-----------GVYYQI-G
Chicken --PCEARECVNCGATATPLW RRDGTGHYLCNACGLYHRLNG
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.
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.
Yu C.; Niakan K.K.; Matsushita M.; Stamatoyannopoulos G.; Orkin S.H.; Raskind W.H.;
Cited for: VARIANT XLTT GLN-216; INTERACTION WITH ZFPM1; CHARACTERIZATION OF VARIANT XLTT GLN-216;
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.