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UniProtKB/Swiss-Prot P02545: Variant p.Tyr481His

Prelamin-A/C
Gene: LMNA
Variant information

Variant position:  481
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Tyrosine (Y) to Histidine (H) at position 481 (Y481H, p.Tyr481His).
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 large size and aromatic (Y) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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 EDMD2.
Any additional useful information about the variant.

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



Sequence information

Variant position:  481
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:   DQSMGNWQIKRQNGDDPLLT  Y RFPPKFTLKAGQVVTIWAAG
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                         DQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAG

Mouse                         DQSMGNWQIRRQNGDDPLMTYRFPPKFTLKAGQVVTIWASG

Rat                           DQSMGNWQIKRQNGDDPLMTYRFPPKFTLKAGQVVTIWASG

Pig                           DQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAG

Chicken                       DQALGNWQVKRQNGDDPPLTYRFPPKFTLKAGQAVTIWASG

Xenopus laevis                DQSLGNWQIKRQIGDETPIVYKFPPRLTLKAGQTVTIWASG

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.

TypePositionsDescription
Chain 1 – 661 Prelamin-A/C
Chain 1 – 646 Lamin-A/C
Domain 428 – 545 LTD
Region 384 – 664 Tail
Modified residue 463 – 463 Phosphoserine
Modified residue 496 – 496 Phosphothreonine
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 479 – 482


Literature citations

A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.
Kitaguchi T.; Matsubara S.; Sato M.; Miyamoto K.; Hirai S.; Schwartz K.; Bonne G.;
Neuromuscul. Disord. 11:542-546(2001)
Cited for: VARIANT EDMD2 HIS-481;

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.