Variant position: 311 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 381 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 DSDSDTDSSQEENEVTEHTP LLRPLASVSAQSFGALSESRS
Mouse DSDSDTDSSQEENQVSEHTP LLPPSASARTQSFGSLSESHS
Rat DSDSDTDSSQEENQVSEHTP LLPPSASARTQSFGSLSESHS
Bovine DSDSDTDSSQEENEVSEHTP LLRPLASASTQSFGALSESRS
Chicken DSDSETDSSQEENEVSENTP LLRPLASVSTQSFGALSESHS
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
35 – 381 E3 ubiquitin-protein ligase RNF13
204 – 381 Cytoplasmic
165 – 381 Missing. Abolishes ER stress-induced JNK activation and apoptosis.
Heterozygous RNF13 gain-of-function variants are associated with congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive.
Edvardson S.; Nicolae C.M.; Noh G.J.; Burton J.E.; Punzi G.; Shaag A.; Bischetsrieder J.; De Grassi A.; Pierri C.L.; Elpeleg O.; Moldovan G.L.;
Am. J. Hum. Genet. 104:179-185(2019)
Cited for: FUNCTION; INVOLVEMENT IN EIEE73; VARIANTS EIEE73 SER-311 AND PRO-312; CHARACTERIZATION OF VARIANT EIEE73 SER-311;
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.