Variant position: 573 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 DEDE--DGDDLLHHHHGSH--CSS SGDPAEYNLRSRTVLCGTCGQ
Mouse NEDDDEDGEELLHHHRGSH--CSG SGDPAEYNLRSRTVLCG
Rat NDDEEEDGDELLHHHRGSH--CSS SGDPAEYNLRSRTVLCG
Pig DEDE--DGDDLLHHHHGSH--GSS SGDPAEYNLRSRTVLCG
Chicken DEDEEDDEVSIHHRHHHSG--CSG SADPAEYNLRSRTVLCG
Xenopus laevis DDEDNDDMEHHHHHHHHHHDGQNS SGDPGEYNLRSRTIVCT
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.
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
Taylor M.R.G.; Fain P.R.; Sinagra G.; Robinson M.L.; Robertson A.D.; Carniel E.; Di Lenarda A.; Bohlmeyer T.J.; Ferguson D.A.; Brodsky G.L.; Boucek M.M.; Lascor J.; Moss A.C.; Li W.-L.P.; Stetler G.L.; Muntoni F.; Bristow M.R.; Mestroni L.;
J. Am. Coll. Cardiol. 41:771-780(2003)
Cited for: VARIANTS CMD1A LEU-89; HIS-377 AND LEU-573;
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
Van Esch H.; Agarwal A.K.; Debeer P.; Fryns J.-P.; Garg A.;
J. Clin. Endocrinol. Metab. 91:517-521(2006)
Cited for: VARIANT MADA LEU-573;
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;
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