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
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Shackleton S.; Lloyd D.J.; Jackson S.N.J.; Evans R.; Niermeijer M.F.; Singh B.M.; Schmidt H.; Brabant G.; Kumar S.; Durrington P.N.; Gregory S.; O'Rahilly S.; Trembath R.C.;
Nat. Genet. 24:153-156(2000)
Cited for: VARIANTS FPLD2 LEU-482 AND TRP-482;
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muchir A.; Medioni J.; Laluc M.; Massart C.; Arimura T.; van der Kooi A.J.; Desguerre I.; Mayer M.; Ferrer X.; Briault S.; Hirano M.; Worman H.J.; Mallet A.; Wehnert M.; Schwartz K.; Bonne G.;
Muscle Nerve 30:444-450(2004)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS EDMD2 LYS-32 DEL; SER-63; GLN-249; LYS-358; CYS-401; TRP-453 AND PRO-527; CHARACTERIZATION OF VARIANTS EDMD2 LYS-208 DEL AND HIS-377; CHARACTERIZATION OF VARIANT FPLD2 LEU-482; CHARACTERIZATION OF VARIANT CMD1A CYS-541;
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.