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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q7Z4Q2: Variant p.Cys446Tyr

HEAT repeat-containing protein 3
Gene: HEATR3
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Variant information Variant position: help 446 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 Cysteine (C) to Tyrosine (Y) at position 446 (C446Y, p.Cys446Tyr). 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 polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 DBA21; severe decrease of protein levels in patient cells; results in impaired biogenesis of 60S ribosomal subunits. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 446 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 680 The length of the canonical sequence.
Location on the sequence: help LIPKKIFEKTAFPNSIAVDL C SRNPTWKPLIRKMNTIQCRA 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                         LIPKKIFEKTAFPNSIAVDLCSRNPTWKPLIRKMNTIQCRA

Mouse                         LIPEKVFEKTSSPNSVAVDICSKNPTWKPLIRKMNTIQCRA
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 – 680 HEAT repeat-containing protein 3
Alternative sequence 401 – 680 Missing. In isoform 3.



Literature citations
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
O'Donohue M.F.; Da Costa L.; Lezzerini M.; Unal S.; Joret C.; Bartels M.; Brilstra E.; Scheijde-Vermeulen M.; Wacheul L.; De Keersmaecker K.; Vereecke S.; Labarque V.; Saby M.; Lefevre S.D.; Platon J.; Montel-Lehry N.; Laugero N.; Lacazette E.; van Gassen K.; Houtkooper R.H.; Simsek-Kiper P.O.; Leblanc T.; Yarali N.; Cetinkaya A.; Akarsu N.A.; Gleizes P.E.; Lafontaine D.L.J.; MacInnes A.W.;
Blood 139:3111-3126(2022)
Cited for: VARIANTS DBA21 ARG-134; LEU-240; TYR-446 AND GLU-584; INVOLVEMENT IN DBA21; CHARACTERIZATION OF VARIANTS DBA21 TYR-446 AND GLU-584; FUNCTION;
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.