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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q63HN8: Variant p.Asp4013Asn

E3 ubiquitin-protein ligase RNF213
Gene: RNF213
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Variant information Variant position: help 4013 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 Aspartate (D) to Asparagine (N) at position 4013 (D4013N, p.Asp4013Asn). 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 acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In MYMY2; variant detected in cases of Moyamoya disease in Caucasian and Asian populations; inhibitory effect on angiogenic activity of vascular endothelial cells; does not affect E3 ubiquitin-protein ligase activity. Any additional useful information about the variant.


Sequence information Variant position: help 4013 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 GIQPCSICLGDAKDPVCLPC D HVHCLRCLRAWFASEQMICP 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                         GIQPCSICLGDAKDPVCLPCDHVHCLRCLRAWFASEQMICP

Mouse                         GIQPCFICHGDAQDPVCLPCDHVYCLRCIQTWLIPGQMMCP
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
Zinc finger 3997 – 4036 RING-type
Binding site 3997 – 3997
Binding site 4000 – 4000
Binding site 4012 – 4012
Binding site 4014 – 4014
Binding site 4017 – 4017
Binding site 4020 – 4020
Binding site 4032 – 4032
Alternative sequence 1 – 4650 Missing. In isoform 4.
Alternative sequence 1064 – 5207 Missing. In isoform 3.
Mutagenesis 4014 – 4014 H -> N. Abolished E3 ubiquitin-protein ligase activity; does not affect ubiquitination of lipopolysaccharide.
Mutagenesis 4024 – 4024 W -> R. Abolished E3 ubiquitin-protein ligase activity; does not affect ubiquitination of lipopolysaccharide.



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; Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFkappaB activation and apoptosis in an AAA+ domain-dependent manner.
Takeda M.; Tezuka T.; Kim M.; Choi J.; Oichi Y.; Kobayashi H.; Harada K.H.; Mizushima T.; Taketani S.; Koizumi A.; Youssefian S.;
Biochem. Biophys. Res. Commun. 525:668-674(2020)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PATHWAY; INTERACTION WITH UBE2N; CHARACTERIZATION OF VARIANTS TYR-3997; ARG-4007; ASN-4014; SER-4017; CYS-4019; ARG-4024; ARG-4032 AND LEU-4033; VARIANT MYMY2 ASN-4013; RNF213 rare variants in an ethnically diverse population with Moyamoya disease.
Cecchi A.C.; Guo D.; Ren Z.; Flynn K.; Santos-Cortez R.L.; Leal S.M.; Wang G.T.; Regalado E.S.; Steinberg G.K.; Shendure J.; Bamshad M.J.; Grotta J.C.; Nickerson D.A.; Pannu H.; Milewicz D.M.;
Stroke 45:3200-3207(2014)
Cited for: VARIANTS MYMY2 ASN-4013 AND LYS-4810; VARIANTS ALA-529 DEL; GLN-3922; TYR-3997; CYS-4019; VAL-4076; LYS-4115 DEL; GLU-4237; THR-4732 AND ILE-5163; RNF213 rare variants in Slovakian and Czech moyamoya disease patients.
Kobayashi H.; Brozman M.; Kyselova K.; Viszlayova D.; Morimoto T.; Roubec M.; Skoloudik D.; Petrovicova A.; Juskanic D.; Strauss J.; Halaj M.; Kurray P.; Hranai M.; Harada K.H.; Inoue S.; Yoshida Y.; Habu T.; Herzig R.; Youssefian S.; Koizumi A.;
PLoS ONE 11:E0164759-E0164759(2016)
Cited for: VARIANTS CYS-4019; LYS-4042; ALA-4146 AND LEU-4677; CHARACTERIZATION OF VARIANT MYMY2 ASN-4013; CHARACTERIZATION OF VARIANTS CYS-4019 AND ALA-4146; Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.
Guey S.; Kraemer M.; Herve D.; Ludwig T.; Kossorotoff M.; Bergametti F.; Schwitalla J.C.; Choi S.; Broseus L.; Callebaut I.; Genin E.; Tournier-Lasserve E.;
Eur. J. Hum. Genet. 25:995-1003(2017)
Cited for: VARIANTS ARG-118; MET-133; ASN-209; LEU-395; VAL-1135; LYS-1705; LEU-1721; THR-1844; HIS-3846; THR-3927; MET-3933; ASN-4014; CYS-4019; ARG-4032; LEU-4033; LYS-4042; PRO-4051; GLN-4062; VAL-4122; SER-4608 AND SER-4640; VARIANTS MYMY2 ASN-4013 AND THR-4399;
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.