Variant position: 92 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 REVSGIKAAYEAELGDARKT LDSVAKERARLQLELSKVREE
Mouse REVSGIKAAYEAELGDARKT LDSVAKERARLQLELSKVREE
Rat REVSGIKAAYEAELGDARKT LDSVAKERARLQLELSKVREE
Pig REVSGIKSAYEAELGDARKT LDSVAKERARLQLELSKVREE
Chicken REVSGIKAAYEAELADARKT LDSVAKERARLQLELSKVREE
Xenopus laevis REVTGIKSAYETELADARKT LDSVAKERARLQLELSKIREE
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
1 – 130 Interaction with MLIP
81 – 218 Coil 1B
107 – 107 Phosphoserine
108 – 108 N6-acetyllysine
97 – 97 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
1 – 99 Missing. In isoform 5.
8 – 119 Missing. In isoform 4.
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
Millat G.; Bouvagnet P.; Chevalier P.; Sebbag L.; Dulac A.; Dauphin C.; Jouk P.S.; Delrue M.A.; Thambo J.B.; Le Metayer P.; Seronde M.F.; Faivre L.; Eicher J.C.; Rousson R.;
Eur. J. Med. Genet. 54:E570-E575(2011)
Cited for: VARIANTS CMD1A PHE-92; LYS-161; LYS-317 AND ARG-523;
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.