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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15976: Variant p.Arg307Cys

Erythroid transcription factor
Gene: GATA1
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Variant information Variant position: help 307 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 Arginine (R) to Cysteine (C) at position 307 (R307C, p.Arg307Cys). 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 large size and basic (R) to medium size and polar (C) 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 CNSHA9; altered transcriptional activity at canonical GATA1 target genes, affecting both silencing and activation of select genes necessary for effective terminal red cell production; may affect binding to specific genomic loci; partial loss of nuclear localization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 307 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 KLHQVNRPLTMRKDGIQTRN R KASGKGKKKRGSSLGGTGAA 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                         KLHQVNRPLTMRKDGIQTRNRKASGKGKKKRGSSLGGTGAA

Mouse                         KLHQVNRPLTMRKDGIQTRNRKASGKGKKKRGSNLAGAGAA

Rat                           KLHQVNRPLTMRKDGIQTRNRKASGKGKKKRGSSLAGAGAA

Bovine                        IVGP-EEDLPRKMEYLEFVCHAPSEYFKSRSSP---FPTVP

Chicken                       KLHQVNRPLTMRKDGIQTRNRKVSSKGKKRRPP---GGGNP
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
Region 200 – 330 Interaction with MED1 and CCAR1
Region 249 – 315 Interaction with CALCOCO1
Region 297 – 327 Disordered
Compositional bias 305 – 318 Basic residues
Modified residue 308 – 308 N6-acetyllysine
Modified residue 310 – 310 Phosphoserine
Modified residue 312 – 312 N6-acetyllysine; by CREBBP
Modified residue 314 – 314 N6-acetyllysine
Modified residue 315 – 315 N6-acetyllysine
Alternative sequence 290 – 413 QVNRPLTMRKDGIQTRNRKASGKGKKKRGSSLGGTGAAEGPAGGFMVVAGGSGSGNCGEVASGLTLGPPGTAHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTGSFPTGPMPPTTSTTVVAPLSS -> HQHYCGGSAQLMRAQSMASRGGVVSFSSCSQNSGQPKSLGPRHPLA. In isoform 2.



Literature citations
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.
Ludwig L.S.; Lareau C.A.; Bao E.L.; Liu N.; Utsugisawa T.; Tseng A.M.; Myers S.A.; Verboon J.M.; Ulirsch J.C.; Luo W.; Muus C.; Fiorini C.; Olive M.E.; Vockley C.M.; Munschauer M.; Hunter A.; Ogura H.; Yamamoto T.; Inada H.; Nakagawa S.; Ohzono S.; Subramanian V.; Chiarle R.; Glader B.; Carr S.A.; Aryee M.J.; Kundaje A.; Orkin S.H.; Regev A.; McCavit T.L.; Kanno H.; Sankaran V.G.;
Blood 139:2534-2546(2022)
Cited for: INVOLVEMENT IN CNSHA9; VARIANTS CNSHA9 CYS-307 AND HIS-307; CHARACTERIZATION OF VARIANTS CNSHA9 CYS-307 AND HIS-307; FUNCTION; SUBCELLULAR LOCATION;
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.