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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5T481: Variant p.Arg716Gln

RNA-binding protein 20
Gene: RBM20
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Variant information Variant position: help 716 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 Arginine (R) to Glutamine (Q) at position 716 (R716Q, p.Arg716Gln). 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 large size and basic (R) to medium size and polar (Q) 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 CMD1DD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 716 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1227 The length of the canonical sequence.
Location on the sequence: help NGDDKRDRMDPWAHDRKHHP R QLDKAELDERPEGGRPHREK 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                         NGDDKRDRMDPWAHDRKHHPRQLDKAELDERPEGGRPHREK

Mouse                         NGEDKRDRLDVWAHDRKHYPRQLDKAELDERLEGGRGYREK

Rat                           NGEDKRDRLDVWAHDRKHYPRQLDKAELDERLEGGRGYREK

Pig                           NGEDKRDRTDMWAHDRKHYPRQVDKTELDERLEGGRGYREK
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 – 1227 RNA-binding protein 20
Region 624 – 906 Disordered
Compositional bias 671 – 740 Basic and acidic residues



Literature citations
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.
Li D.; Morales A.; Gonzalez-Quintana J.; Norton N.; Siegfried J.D.; Hofmeyer M.; Hershberger R.E.;
Clin. Transl. Sci. 3:90-97(2010)
Cited for: VARIANTS CMD1DD ILE-535; TRP-634; GLN-634; CYS-636; HIS-636 AND GLN-716; Regional variation in RBM20 causes a highly penetrant arrhythmogenic cardiomyopathy.
Parikh V.N.; Caleshu C.; Reuter C.; Lazzeroni L.C.; Ingles J.; Garcia J.; McCaleb K.; Adesiyun T.; Sedaghat-Hamedani F.; Kumar S.; Graw S.; Gigli M.; Stolfo D.; Dal Ferro M.; Ing A.Y.; Nussbaum R.; Funke B.; Wheeler M.T.; Hershberger R.E.; Cook S.; Steinmetz L.M.; Lakdawala N.K.; Taylor M.R.G.; Mestroni L.; Merlo M.; Sinagra G.; Semsarian C.; Meder B.; Judge D.P.; Ashley E.;
Circ. Heart Fail. 12:e005371-e005371(2019)
Cited for: VARIANTS CMD1DD ILE-535 AND GLN-716;
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.