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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P50570: Variant p.Ser619Leu

Dynamin-2
Gene: DNM2
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Variant information Variant position: help 619 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 Serine (S) to Leucine (L) at position 619 (S619L, p.Ser619Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 CNM1; severe; impairs BIN1-dependent T-tubule formation, zebrafish larval muscle show alteration of T-tubule organization; increases GTPase-mediated membrane fission; inhibits GTPase-mediated membrane fission by BIN1 in a dose-dependent manner. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 619 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 870 The length of the canonical sequence.
Location on the sequence: help DLRQIELACDSQEDVDSWKA S FLRAGVYPEKDQAENEDGAQ 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                         DLRQIELACDSQEDVDSWKASFLRAGVYPEKDQAENEDGAQ

Mouse                         DLRQIELACDSQEDVDSWKASFLRAGVYPEKDQAENEDGAQ

Rat                           DLRQIELACDSQEDVDSWKASFLRAGVYPEKDQAENEDGAQ

Bovine                        DLRQIELACDSQEDVDSWKASFLRAGVYPEKDQAENEDGAQ
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 – 870 Dynamin-2
Domain 519 – 625 PH
Helix 610 – 623



Literature citations
GSK3alpha phosphorylates dynamin-2 to promote GLUT4 endocytosis in muscle cells.
Laiman J.; Hsu Y.J.; Loh J.; Tang W.C.; Chuang M.C.; Liu H.K.; Yang W.S.; Chen B.C.; Chuang L.M.; Chang Y.C.; Liu Y.W.;
J. Cell Biol. 222:0-0(2023)
Cited for: FUNCTION; INTERACTION WITH BIN1; SUBUNIT; VARIANTS CNM1 TRP-465; THR-618; LEU-619 AND VAL-625 DEL; CHARACTERIZATION OF VARIANTS CNM1 TRP-465; THR-618; LEU-619 AND VAL-625 DEL; MUTAGENESIS OF SER-848; PHOSPHORYLATION AT SER-848; Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Bitoun M.; Bevilacqua J.A.; Prudhon B.; Maugenre S.; Taratuto A.L.; Monges S.; Lubieniecki F.; Cances C.; Uro-Coste E.; Mayer M.; Fardeau M.; Romero N.B.; Guicheney P.;
Ann. Neurol. 62:666-670(2007)
Cited for: VARIANTS CNM1 THR-618; LEU-619; TRP-619 AND VAL-625 DEL; Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
Susman R.D.; Quijano-Roy S.; Yang N.; Webster R.; Clarke N.F.; Dowling J.; Kennerson M.; Nicholson G.; Biancalana V.; Ilkovski B.; Flanigan K.M.; Arbuckle S.; Malladi C.; Robinson P.; Vucic S.; Mayer M.; Romero N.B.; Urtizberea J.A.; Garcia-Bragado F.; Guicheney P.; Bitoun M.; Carlier R.Y.; North K.N.;
Neuromuscul. Disord. 20:229-237(2010)
Cited for: VARIANTS CNM1 LYS-368; TRP-465; HIS-522; THR-618; LEU-619 AND HIS-627; The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.
Gibbs E.M.; Davidson A.E.; Telfer W.R.; Feldman E.L.; Dowling J.J.;
Dis. Model. Mech. 7:157-161(2014)
Cited for: VARIANT CNM1 LEU-619; CHARACTERIZATION OF VARIANT CNM1 LEU-619; 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.