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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q63HN8: Variant p.Ala5021Val

E3 ubiquitin-protein ligase RNF213
Gene: RNF213
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Variant information Variant position: help 5021 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Alanine (A) to Valine (V) at position 5021 (A5021V, p.Ala5021Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 Variant detected in cases of Moyamoya disease in East Asian populations and rare variant detected in a sporadic case of Moyamoya disease; does not affect ubiquitination of lipopolysaccharide. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 5021 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 5207 The length of the canonical sequence.
Location on the sequence: help DSLPSSVISAISGQLQSYSD A CEVLSVVEVTLGFLSTAGGD 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                         DSLPSSVISAISGQLQSYSDACEVLSVVEVTLGFLSTAGGD

Mouse                         SSLPNLAISTISGQLQSYSDACEALSIIEITLGFLSTAGGD

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 – 5207 E3 ubiquitin-protein ligase RNF213
Alternative sequence 1064 – 5207 Missing. In isoform 3.



Literature citations
Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.
Liu W.; Morito D.; Takashima S.; Mineharu Y.; Kobayashi H.; Hitomi T.; Hashikata H.; Matsuura N.; Yamazaki S.; Toyoda A.; Kikuta K.; Takagi Y.; Harada K.H.; Fujiyama A.; Herzig R.; Krischek B.; Zou L.; Kim J.E.; Kitakaze M.; Miyamoto S.; Nagata K.; Hashimoto N.; Koizumi A.;
PLoS ONE 6:E22542-E22542(2011)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; CATALYTIC ACTIVITY; AUTOUBIQUITINATION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS ASP-3962; GLN-4062; SER-4608; ASN-4863; ASP-4950; VAL-5021; GLU-5160 AND GLY-5176; VARIANTS MYMY2 ASN-4013 AND LYS-4810; Ubiquitylation of lipopolysaccharide by RNF213 during bacterial infection.
Otten E.G.; Werner E.; Crespillo-Casado A.; Boyle K.B.; Dharamdasani V.; Pathe C.; Santhanam B.; Randow F.;
Nature 594:111-116(2021)
Cited for: FUNCTION; SUBCELLULAR LOCATION; DOMAIN; CHARACTERIZATION OF VARIANTS ILE-4638; ASP-4950 AND VAL-5021; CHARACTERIZATION OF VARIANT MYMY2 LYS-4810; MUTAGENESIS OF LYS-2426; GLU-2488; LYS-2775; GLU-2845; HIS-4014; TRP-4024 AND HIS-4509; Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.
Wu Z.; Jiang H.; Zhang L.; Xu X.; Zhang X.; Kang Z.; Song D.; Zhang J.; Guan M.; Gu Y.;
PLoS ONE 7:E48179-E48179(2012)
Cited for: VARIANTS MYMY2 THR-4399 AND LYS-4810; VARIANTS ARG-4007; LEU-4367; PRO-4586; VAL-4631; ASP-4950; VAL-5021 AND ILE-5136;
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.