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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5T481: Variant p.Pro638Leu

RNA-binding protein 20
Gene: RBM20
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Variant information Variant position: help 638 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 Proline (P) to Leucine (L) at position 638 (P638L, p.Pro638Leu). 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 CMD1DD; impaired localization to the nucleus, leading to mislocalization to the cytoplasm. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 638 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 ERDMFREADRYGPERPRSRS P VSRSLSPRSHTPSFTSCSSS 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                         ERDMFREADRYGPERPRSRSPVSRSLSPRSHTPSFTSCSSS

Mouse                         ERDMLREADRYGPERPRSRSPMSRSLSPRSHS---------

Rat                           ERCMLREADRYGPERPRSRSPMSRSLSPRSHS---------

Pig                           ERDMFREADRYGPERPRSRSPVSRSLSPRSHTPSFTSCSSS

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
Region 628 – 655 RS
Compositional bias 637 – 664 Polar residues
Modified residue 635 – 635 Phosphoserine
Modified residue 637 – 637 Phosphoserine
Modified residue 640 – 640 Phosphoserine
Modified residue 642 – 642 Phosphoserine



Literature citations
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.
Brauch K.M.; Karst M.L.; Herron K.J.; de Andrade M.; Pellikka P.A.; Rodeheffer R.J.; Michels V.V.; Olson T.M.;
J. Am. Coll. Cardiol. 54:930-941(2009)
Cited for: TISSUE SPECIFICITY; VARIANTS CMD1DD GLN-634; HIS-636; SER-636; GLY-637 AND LEU-638; Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy.
Refaat M.M.; Lubitz S.A.; Makino S.; Islam Z.; Frangiskakis J.M.; Mehdi H.; Gutmann R.; Zhang M.L.; Bloom H.L.; MacRae C.A.; Dudley S.C.; Shalaby A.A.; Weiss R.; McNamara D.M.; London B.; Ellinor P.T.;
Heart Rhythm 9:390-396(2012)
Cited for: VARIANTS CMD1DD ILE-83; LEU-455; LEU-638; ASN-888; 1031-GLY--LEU-1227 DEL; ARG-1081 AND LYS-1206; Pathogenic RBM20-variants are associated with a severe disease expression in male patients with dilated cardiomyopathy.
Hey T.M.; Rasmussen T.B.; Madsen T.; Aagaard M.M.; Harbo M.; Moelgaard H.; Moeller J.E.; Eiskjaer H.; Mogensen J.;
Circ. Heart Fail. 12:e005700-e005700(2019)
Cited for: VARIANTS CMD1DD VAL-196; TRP-392; GLN-634; HIS-636; SER-636; LEU-638; GLY-674; LYS-913 AND SER-1039; Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Gaertner A.; Klauke B.; Felski E.; Kassner A.; Brodehl A.; Gerdes D.; Stanasiuk C.; Ebbinghaus H.; Schulz U.; Dubowy K.O.; Tiesmeier J.; Laser K.T.; Bante H.; Bergau L.; Sommer P.; Fox H.; Morshuis M.; Gummert J.; Milting H.;
Hum. Mutat. 41:1931-1943(2020)
Cited for: VARIANTS CMD1DD LEU-638 AND ALA-914; CHARACTERIZATION OF VARIANTS CMD1DD LEU-638 AND ALA-914; SUBCELLULAR LOCATION; FUNCTION;
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.