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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 638 (P638L, p.Pro638Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In CMD1DD; impaired localization to the nucleus, leading to mislocalization to the cytoplasm.
Other resources: help


Sequence information Variant position: help 638
Protein sequence length: help 1227
Location on the sequence: help ERDMFREADRYGPERPRSRS P VSRSLSPRSHTPSFTSCSSS
Residue conservation: help 
Human                         ERDMFREADRYGPERPRSRSPVSRSLSPRSHTPSFTSCSSS

Mouse                         ERDMLREADRYGPERPRSRSPMSRSLSPRSHS---------

Rat                           ERCMLREADRYGPERPRSRSPMSRSLSPRSHS---------

Pig                           ERDMFREADRYGPERPRSRSPVSRSLSPRSHTPSFTSCSSS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1227 RNA-binding protein 20
Region 624 – 906 Disordered
Region 628 – 655 RS
Compositional bias 636 – 660 Low complexity
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.