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UniProtKB/Swiss-Prot Q63HN8: Variant p.Asp4013Asn

E3 ubiquitin-protein ligase RNF213
Gene: RNF213
Variant information

Variant position:  4013
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  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

Involvement in disease:  Moyamoya disease 2 (MYMY2) [MIM:607151]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. {ECO:0000269|PubMed:21048783, ECO:0000269|PubMed:21799892, ECO:0000269|PubMed:23110205, ECO:0000269|PubMed:23994138, ECO:0000269|PubMed:25278557, ECO:0000269|PubMed:25956231, ECO:0000269|PubMed:26126547, ECO:0000269|PubMed:26198278, ECO:0000269|PubMed:27736983}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MYMY2; variant detected in cases of Moyamoya disease in Caucasian and Asian populations; inhibitory effect on angiogenic activity of vascular endothelial cells.
Any additional useful information about the variant.



Sequence information

Variant position:  4013
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  5207
The length of the canonical sequence.

Location on the sequence:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         GIQPCSICLGDAKDPVCLPCDHVHCLRCLRAWFASEQMICP

Mouse                         GIQPCFICHGDAQDPVCLPCDHVYCLRCIQTWLIPGQMMCP

Sequence annotation in neighborhood:  
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
Alternative sequence 1 – 4650 Missing. In isoform 4.
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;

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;

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.