Variant position: 439 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 RKLESTESR------SSFSQHARTSG RVAVEEVDEEGKFVRLRNKSN
Mouse RKLESSESR------SSFSQHARTSG RVAVEEVDEEGKFVR
Rat RKLESSESR------SSFSQHARTSG RVAVEEVDEEGKFVR
Pig RKLESSESR------SSFSQHARTSG RVAVEEVDEEGKFVR
Chicken RRLEDGEGREGREGRTSFSHHARTSG RVGVEEVDLEGRFVR
Xenopus laevis RRLEEGESRS-----SSFTQHARTTG KVSVEEVDPEGKYVR
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
429 – 429 Phosphoserine
431 – 431 Phosphoserine
450 – 450 N6-acetyllysine; alternate
457 – 457 N6-acetyllysine
458 – 458 Phosphoserine
420 – 420 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
450 – 450 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
438 – 445
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
Verstraeten V.L.; Caputo S.; van Steensel M.A.; Duband-Goulet I.; Zinn-Justin S.; Kamps M.; Kuijpers H.J.; Ostlund C.; Worman H.J.; Briede J.J.; Le Dour C.; Marcelis C.L.; van Geel M.; Steijlen P.M.; van den Wijngaard A.; Ramaekers F.C.; Broers J.L.;
J. Cell. Mol. Med. 13:959-971(2009)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS FPLD2 CYS-439 AND TRP-482;
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.