Variant position: 530 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 664 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 TDLVWKAQNTWGCGNSLRTA LINSTGEEVAMRKLVRSVTVV
Mouse TDLVWKAQNTWGCGSSLRTA LINSTGEEVAMRKLVRSLTMV
Rat TDLVWKAQNTWGCGTSLRTA LINATGEEVAMRKLVRSLTMV
Pig ADLVWKSQNTWGCGNSLRTA LINSTGEEVAMRKLVRSVTMI
Chicken SDVVWKAQSSWGSGDSLRTA LINSNGEEVAMRKLVRTVIIN
Xenopus laevis SDLVWKAQSSWGTGDSIRTA LLTSSNEEVAMRKLVRTVVIN
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.
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
Haque F.; Mazzeo D.; Patel J.T.; Smallwood D.T.; Ellis J.A.; Shanahan C.M.; Shackleton S.;
J. Biol. Chem. 285:3487-3498(2010)
Cited for: INTERACTION WITH SUN1; CHARACTERIZATION OF VARIANTS EDMD2 PRO-527 AND PRO-530; CHARACTERIZATION OF VARIANT HGPS SER-608;
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Bonne G.; Di Barletta M.R.; Varnous S.; Becane H.-M.; Hammouda E.-H.; Merlini L.; Muntoni F.; Greenberg C.R.; Gary F.; Urtizberea J.-A.; Duboc D.; Fardeau M.; Toniolo D.; Schwartz K.;
Nat. Genet. 21:285-288(1999)
Cited for: VARIANTS EDMD2 TRP-453; PRO-527 AND PRO-530; FUNCTION;
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
Oestlund C.; Bonne G.; Schwartz K.; Worman H.J.;
J. Cell Sci. 114:4435-4445(2001)
Cited for: CHARACTERIZATION OF VARIANTS CMD1A GLY-60; ARG-85; LYS-195 AND GLY-203; CHARACTERIZATION OF VARIANTS EDMD2 LYS-358; LYS-371; LYS-386; TRP-453; SER-520; PRO-527; LYS-528 AND PRO-530; CHARACTERIZATION OF VARIANTS FPLD2 GLN-482; TRP-482 AND ASN-486;
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.