Variant position: 380 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 QELLDIKLALDMEIHAYRKL LEGEEERLRLSPSPTSQRSRG
Mouse QELLDIKLALDMEIHAYRKL LEGEEERLRLSPSPTSQRSRG
Rat QELLDIKLALDMEIHAYRKL LEGEEERLRLSPSPTSQRSRG
Pig QELLDIKLALDMEIHAYRKL LEGEEERLRLSPSPTSQRSRG
Chicken QELLDIKLALDMEINAYRKL LEGEEERLRLSPSPSSQ----
Xenopus laevis QELLDIKLALDMEINAYRKL LEGEEERLRLSPSPNTQKRSA
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
398 – 398 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)
316 – 384
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Quijano-Roy S.; Mbieleu B.; Bonnemann C.G.; Jeannet P.Y.; Colomer J.; Clarke N.F.; Cuisset J.M.; Roper H.; De Meirleir L.; D'Amico A.; Ben Yaou R.; Nascimento A.; Barois A.; Demay L.; Bertini E.; Ferreiro A.; Sewry C.A.; Romero N.B.; Ryan M.; Muntoni F.; Guicheney P.; Richard P.; Bonne G.; Estournet B.;
Ann. Neurol. 64:177-186(2008)
Cited for: VARIANTS MDCL SER-39; PRO-50; TRP-249; PRO-302; LYS-358; SER-380; PRO-453; PRO-455 AND ASP-456;
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.