Variant position: 65 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 YIDRVRSLETENAGLRLRIT ESEEVVSREVSGIKAAYEAEL
Mouse YIDRVRSLETENAGLRLRIT ESEEVVSREVSGIKAAYEAEL
Rat YIDRVRSLETENAGLRLRIT ESEEVVSREVSGIKAAYEAEL
Pig YIDRVRSLETENAGLRLRIT ESEEVVSREVSGIKSAYEAEL
Chicken YIDKVRSLELENAGLRLRIT ESEEVVSREVSGIKAAYEAEL
Xenopus laevis YIDKVRSLELENARLRLRIT ESEDVISREVTGIKSAYETEL
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
31 – 387 IF rod
1 – 130 Interaction with MLIP
34 – 70 Coil 1A
51 – 51 Phosphoserine
66 – 66 Phosphoserine
71 – 71 Phosphoserine
1 – 99 Missing. In isoform 5.
8 – 119 Missing. In isoform 4.
28 – 70
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
Vytopil M.; Benedetti S.; Ricci E.; Galluzzi G.; Dello Russo A.; Merlini L.; Boriani G.; Gallina M.; Morandi L.; Politano L.; Moggio M.; Chiveri L.; Hausmanova-Petrusewicz I.; Ricotti R.; Vohanka S.; Toman J.; Toniolo D.;
J. Med. Genet. 40:E132-E132(2003)
Cited for: VARIANTS EDMD2 GLY-25; LYS-32 DEL; VAL-35; GLY-65; GLU-112 DEL; PRO-248; GLN-249; CYS-267; VAL-446; TRP-453; ARG-528 AND HIS-541; VARIANT CMD1A CYS-435;
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.