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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15976: Variant p.Asp218Tyr

Erythroid transcription factor
Gene: GATA1
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Variant information Variant position: help 218 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Aspartate (D) to Tyrosine (Y) at position 218 (D218Y, p.Asp218Tyr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (D) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In XDAT; stronger loss of affinity than of G-218-GATA1 for ZFPM1 and disturbed GATA1 self-association. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 218 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 413 The length of the canonical sequence.
Location on the sequence: help PCEARECVNCGATATPLWRR D RTGHYLCNACGLYHKMNGQN 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQN

Mouse                         PCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQN

Rat                           PCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQN

Bovine                        PIKAPESVSTIITAESIFYK-----------GVYYQI-GDV

Chicken                       PCEARECVNCGATATPLWRRDGTGHYLCNACGLYHRLNGQN
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 413 Erythroid transcription factor
Zinc finger 204 – 228 GATA-type 1
Region 200 – 330 Interaction with MED1 and CCAR1
Region 203 – 222 Required for interaction with ZFPM1
Modified residue 233 – 233 N6-acetyllysine; by EP300
Mutagenesis 204 – 204 C -> R. Increase of dissociation rate from bound DNA.



Literature citations
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;
Disclaimer: 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.