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UniProtKB/Swiss-Prot P02545: Variant p.Glu317Lys

Gene: LMNA
Variant information

Variant position:  317
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Glutamate (E) to Lysine (K) at position 317 (E317K, p.Glu317Lys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and acidic (E) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CMD1A.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  317
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  664
The length of the canonical 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.







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.

Chain 1 – 661 Prelamin-A/C
Chain 1 – 646 Lamin-A/C
Domain 31 – 387 IF rod
Region 243 – 383 Coil 2
Region 259 – 331 Necessary and sufficient for the interaction with IFFO1
Site 325 – 325 Stutter
Site 330 – 330 Heptad change of phase
Modified residue 301 – 301 Phosphoserine
Modified residue 307 – 307 Phosphoserine
Modified residue 311 – 311 N6-acetyllysine; alternate
Cross 311 – 311 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Helix 316 – 384

Literature citations

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
Arbustini E.; Pilotto A.; Repetto A.; Grasso M.; Negri A.; Diegoli M.; Campana C.; Scelsi L.; Baldini E.; Gavazzi A.; Tavazzi L.;
J. Am. Coll. Cardiol. 39:981-990(2002)
Cited for: VARIANTS CMD1A GLU-97; TRP-190 AND LYS-317;

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;

Disclaimer: 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.