Variant position: 377 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 DEYQELLDIKLALDMEIHAY RKLLEGEEERLRLSPSPTSQR
Mouse DEYQELLDIKLALDMEIHAY RKLLEGEEERLRLSPSPTSQR
Rat DEYQELLDIKLALDMEIHAY RKLLEGEEERLRLSPSPTSQR
Pig DEYQELLDIKLALDMEIHAY RKLLEGEEERLRLSPSPTSQR
Chicken DEYQELLDIKLALDMEINAY RKLLEGEEERLRLSPSPSSQ-
Xenopus laevis DEYQELLDIKLALDMEINAY RKLLEGEEERLRLSPSPNTQK
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
243 – 383 Coil 2
390 – 390 Phosphoserine
392 – 392 Phosphoserine
395 – 395 Phosphoserine
366 – 366 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
378 – 378 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
358 – 358 E -> K. Loss of interaction with IFFO1.
386 – 386 R -> M. Loss of interaction with IFFO1.
316 – 384
Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
Ki C.-S.; Hong J.S.; Jeong G.-Y.; Ahn K.J.; Choi K.-M.; Kim D.-K.; Kim J.-W.;
J. Hum. Genet. 47:225-228(2002)
Cited for: VARIANT EDMD2 GLN-249; VARIANT EDMD2 LEU-377;
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
Boriani G.; Gallina M.; Merlini L.; Bonne G.; Toniolo D.; Amati S.; Biffi M.; Martignani C.; Frabetti L.; Bonvicini M.; Rapezzi C.; Branzi A.;
Cited for: VARIANTS EDMD2 ASN-63; PRO-140; GLN-249; LEU-377; LYS-386 AND PRO-527;
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.