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UniProtKB/Swiss-Prot P15976: Variant p.Arg216Gln

Erythroid transcription factor
Gene: GATA1
Variant information

Variant position:  216
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 216 (R216Q, p.Arg216Gln).
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:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

Involvement in disease:  Thrombocytopenia with beta-thalassemia, X-linked (XLTT) [MIM:314050]: An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta-thalassemia minor. {ECO:0000269|PubMed:12200364}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In XLTT; does not affect ZFPM1 binding; reduced affinity to palindromic GATA sites; supports erythroid maturation less efficiently than wild-type GATA1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   LPPCEARECVNCGATATPLW  R RDRTGHYLCNACGLYHKMNG
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                         LPPCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNG

Mouse                         LAPCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNG

Rat                           LAPCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNG

Bovine                        KNPIKAPESVSTIITAESIFYK-----------GVYYQI-G

Chicken                       --PCEARECVNCGATATPLWRRDGTGHYLCNACGLYHRLNG

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.

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

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.;
Blood 100:2040-2045(2002)
Cited for: VARIANT XLTT GLN-216; INTERACTION WITH ZFPM1; CHARACTERIZATION OF VARIANT XLTT GLN-216;

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.