Variant position: 388 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 ALDMEIHAYRKLLEGEEERL RLSPSPTSQRSRGRASSHSSQ
Mouse ALDMEIHAYRKLLEGEEERL RLSPSPTSQRSRGRASSHSSQ
Rat ALDMEIHAYRKLLEGEEERL RLSPSPTSQRSRGRASSHSSQ
Pig ALDMEIHAYRKLLEGEEERL RLSPSPTSQRSRGRASSHSSQ
Chicken ALDMEINAYRKLLEGEEERL RLSPSPSSQ----RGARSSGL
Xenopus laevis ALDMEINAYRKLLEGEEERL RLSPSPNTQKRSARTIASHSG
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
384 – 664 Tail
390 – 390 Phosphoserine
392 – 392 Phosphoserine
395 – 395 Phosphoserine
398 – 398 Phosphoserine
403 – 403 Phosphoserine
404 – 404 Phosphoserine
407 – 407 Phosphoserine
378 – 378 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
386 – 386 R -> M. Loss of interaction with IFFO1.
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
Cowan J.; Li D.; Gonzalez-Quintana J.; Morales A.; Hershberger R.E.;
Circ. Cardiovasc. Genet. 3:6-14(2010)
Cited for: SUBCELLULAR LOCATION; VARIANTS CMD1A LEU-89; PRO-101; PRO-166; GLN-190; LYS-203; SER-210; PRO-215; THR-318; HIS-388; CYS-399 AND HIS-471;
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.