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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02545: Variant p.Arg471Cys

Prelamin-A/C
Gene: LMNA
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Variant information Variant position: help 471 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Cysteine (C) at position 471 (R471C, p.Arg471Cys). 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: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In HGPS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 471 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 664 The length of the canonical sequence.
Location on the sequence: help FVRLRNKSNEDQSMGNWQIK R QNGDDPLLTYRFPPKFTLKA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         FVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKA

Mouse                         FVRLRNKSNEDQSMGNWQIRRQNGDDPLMTYRFPPKFTLKA

Rat                           FVRLRNKSNEDQSMGNWQIKRQNGDDPLMTYRFPPKFTLKA

Pig                           FVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKA

Chicken                       FVRLRNKSNEDQALGNWQVKRQNGDDPPLTYRFPPKFTLKA

Xenopus laevis                YVRLRNKSNEDQSLGNWQIKRQIGDETPIVYKFPPRLTLKA

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 661 Prelamin-A/C
Chain 1 – 646 Lamin-A/C
Domain 428 – 545 LTD
Region 384 – 664 Tail
Modified residue 457 – 457 N6-acetyllysine
Modified residue 458 – 458 Phosphoserine
Modified residue 463 – 463 Phosphoserine
Cross 470 – 470 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross 486 – 486 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Beta strand 468 – 473



Literature citations
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
Cao H.; Hegele R.A.;
J. Hum. Genet. 48:271-274(2003)
Cited for: VARIANTS HGPS CYS-471; CYS-527 AND SER-608;
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.