Variant position: 208 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 PKLRGTLPLPPCEARECVNC GATATPLWRRDRTGHYLCNAC
Mouse PKFHGSLPLAPCEARECVNC GATATPLWRRDRTGHYLCNAC
Rat PKFHGSLPLAPCEARECVNC GATATPLWRRDRTGHYLCNAC
Bovine ---HIFKLKNPIKAPESVST IITAESIFYK-----------
Chicken ----------PCEARECVNC GATATPLWRRDGTGHYLCNAC
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
204 – 204 C -> R. Increase of dissociation rate from bound DNA.
X-linked thrombocytopenia caused by a novel mutation of GATA-1.
Mehaffey M.G.; Newton A.L.; Gandhi M.J.; Crossley M.; Drachman J.G.;
Cited for: VARIANT XDAT SER-208; INTERACTION WITH ZFPM1; CHARACTERIZATION OF VARIANT XDAT SER-208;
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