Variant position: 482 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 QSMGNWQIKRQNGDDPLLTY RFPPKFTLKAGQVVTIWAAGA
Mouse QSMGNWQIRRQNGDDPLMTY RFPPKFTLKAGQVVTIWASGA
Rat QSMGNWQIKRQNGDDPLMTY RFPPKFTLKAGQVVTIWASGA
Pig QSMGNWQIKRQNGDDPLLTY RFPPKFTLKAGQVVTIWAAGA
Chicken QALGNWQVKRQNGDDPPLTY RFPPKFTLKAGQAVTIWASGA
Xenopus laevis QSLGNWQIKRQIGDETPIVY KFPPRLTLKAGQTVTIWASGA
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.
Type Positions Description
1 – 661 Prelamin-A/C
1 – 646 Lamin-A/C
428 – 545 LTD
384 – 664 Tail
463 – 463 Phosphoserine
496 – 496 Phosphothreonine
470 – 470 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
486 – 486 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
479 – 482
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
Speckman R.A.; Garg A.; Du F.; Bennett L.; Veile R.; Arioglu E.; Taylor S.I.; Lovett M.; Bowcock A.M.;
Am. J. Hum. Genet. 66:1192-1198(2000)
Cited for: VARIANTS FPLD2 ASP-465; GLN-482; TRP-482 AND HIS-582;
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy.
Cao H.; Hegele R.A.;
Hum. Mol. Genet. 9:109-112(2000)
Cited for: VARIANT FPLD2 GLN-482;
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.