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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43567: Variant p.Leu312Pro

E3 ubiquitin-protein ligase RNF13
Gene: RNF13
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Variant information Variant position: help 312 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 Leucine (L) to Proline (P) at position 312 (L312P, p.Leu312Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 DEE73. Any additional useful information about the variant.


Sequence information Variant position: help 312 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 381 The length of the canonical sequence.
Location on the sequence: help SDSDTDSSQEENEVTEHTPL L RPLASVSAQSFGALSESRSH 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                         SDSDTDSSQEENEVTEHTPLLRPLASVSAQSFGALSESRSH

Mouse                         SDSDTDSSQEENQVSEHTPLLPPSASARTQSFGSLSESHSH

Rat                           SDSDTDSSQEENQVSEHTPLLPPSASARTQSFGSLSESHSH

Bovine                        SDSDTDSSQEENEVSEHTPLLRPLASASTQSFGALSESRSH

Chicken                       SDSETDSSQEENEVSENTPLLRPLASVSTQSFGALSESHSH
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 35 – 381 E3 ubiquitin-protein ligase RNF13
Topological domain 204 – 381 Cytoplasmic
Region 285 – 381 Disordered
Mutagenesis 165 – 381 Missing. Abolishes ER stress-induced JNK activation and apoptosis.



Literature citations
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 DEE73; VARIANTS DEE73 SER-311 AND PRO-312; CHARACTERIZATION OF VARIANT DEE73 SER-311;
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.