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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99607: Variant p.Trp231Arg

ETS-related transcription factor Elf-4
Gene: ELF4
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Variant information Variant position: help 231 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 Tryptophan (W) to Arginine (R) at position 231 (W231R, p.Trp231Arg). 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 aromatic (W) to large size and basic (R) 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 AIFBL2; loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay; decreased IFNB1 promoter binding; impaired binding to GPR35, GPR162 and PLCB2 promoters. Any additional useful information about the variant.


Sequence information Variant position: help 231 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 663 The length of the canonical sequence.
Location on the sequence: help LWEFLLALLQDRNTCPKYIK W TQREKGIFKLVDSKAVSKLW 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                         LWEFLLALLQDRNTCPKYIKWTQREKGIFKLVDSKAVSKLW

Mouse                         LWEFLLALLQDRNTCPKYIKWTQREKGIFKLVDSKAVSKLW
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 – 663 ETS-related transcription factor Elf-4
DNA binding 209 – 291 ETS
Mutagenesis 211 – 211 L -> A. Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay.
Mutagenesis 212 – 212 W -> A. Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay.
Mutagenesis 219 – 219 L -> A. Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay.
Mutagenesis 239 – 239 F -> A. Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay.
Mutagenesis 251 – 251 W -> A. Loss of transcriptional activity shown in IFNB1 promoter-driven luciferase assay. Loss of INFB1 promoter binding. Does not bind GPR35, GPR162 and PLCB2 promoters.



Literature citations
Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.
Sun G.; Qiu L.; Yu L.; An Y.; Ding Y.; Zhou L.; Wu J.; Yang X.; Zhang Z.; Tang X.; Xia H.; Cao L.; You F.; Zhao X.; Du H.;
J. Clin. Immunol. 42:798-810(2022)
Cited for: VARIANT AIFBL2 ARG-231; INVOLVEMENT IN AIFBL2; CHARACTERIZATION OF VARIANT AIFBL2 ARG-231; MUTAGENESIS OF LEU-211; TRP-212; LEU-219; PHE-239; TRP-251; GLY-252; LYS-255 AND MET-260; 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.