Variant position: 399 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 LLEGEEERLRLSPSPTSQRS RGRASSHSSQTQGGGSVTKKR
Mouse LLEGEEERLRLSPSPTSQRS RGRASSHSSQSQGGGSVTKKR
Rat LLEGEEERLRLSPSPTSQRS RGRASSHSSQSQGGGSVTKKR
Pig LLEGEEERLRLSPSPTSQRS RGRASSHSSQTQSGGSVTKKR
Chicken LLEGEEERLRLSPSPSSQ-- --RGARSSGLQHSGAGSAKKR
Xenopus laevis LLEGEEERLRLSPSPNTQKR SARTIASHSGAHISSSASKRR
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.
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;
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
Lanktree M.; Cao H.; Rabkin S.W.; Hanna A.; Hegele R.A.;
Clin. Genet. 71:183-186(2007)
Cited for: VARIANTS FPLD2 ASN-230; CYS-399 AND LEU-573;
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.