Variant position: 4062 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:
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 EFSPAVSQAHREAIEKHARF RQMCNSFFVDLVSTICFKDNA
Mouse KFSPTVSQDHRKAIEKHAQF RHMCNSFFVDLVSTMCFKDNT
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.
Type Positions Description
1 – 5207 E3 ubiquitin-protein ligase RNF213
1 – 4650 Missing. In isoform 4.
1064 – 5207 Missing. In isoform 3.
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;
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.