Variant position: 562 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 870 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human WFVLTAESLSWYKDEEEKEK KYMLPLDNLKIRDVEKGFMSN
Mouse WFVLTAESLSWYKDEEEKEK KYMLPLDNLKIRDVEKGFMSN
Rat WFVLTAESLSWYKDEEEKEK KYMLPLDNLKIRDVEKGFMSN
Bovine WFVLTAESLSWYKDEEEKEK KYMLPLDNLKIRDVEKGFMSN
Sequence annotation in neighborhood: 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.
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Zuechner S.; Noureddine M.; Kennerson M.; Verhoeven K.; Claeys K.; De Jonghe P.; Merory J.; Oliveira S.A.; Speer M.C.; Stenger J.E.; Walizada G.; Zhu D.; Pericak-Vance M.A.; Nicholson G.; Timmerman V.; Vance J.M.;
Nat. Genet. 37:289-294(2005)
Cited for: VARIANTS CMTDIB 555-ASP--GLU-557 DEL; LYS-562 DEL AND GLU-562; CHARACTERIZATION OF VARIANT CMTDIB 555-ASP--GLU-557 DEL;
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
Bitoun M.; Durieux A.-C.; Prudhon B.; Bevilacqua J.A.; Herledan A.; Sakanyan V.; Urtizberea A.; Cartier L.; Romero N.B.; Guicheney P.;
Hum. Mutat. 30:1419-1427(2009)
Cited for: VARIANT CNM1 LYS-650; CHARACTERIZATION OF VARIANTS CNM1 TRP-465; VAL-625 DEL AND LYS-650; CHARACTERIZATION OF VARIANT CMTDIB GLU-562; PATHOPHYSIOLOGICAL PATHWAY IN THE AUTOSOMAL FORMS OF CNM AND DNM2-CMT NEUROPATHY;
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.