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UniProtKB/Swiss-Prot P02545: Variant p.Asp300Gly

Prelamin-A/C
Gene: LMNA
Variant information

Variant position:  300
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 Aspartate (D) to Glycine (G) at position 300 (D300G, p.Asp300Gly).
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 (D) to glycine (G)
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 HGPS; atypical form with late onset; abnormal nuclear morphology with single or multple blebs, lobulation and occasional ringed or donut shaped nuclei.
Any additional useful information about the variant.

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



Sequence information

Variant position:  300
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:   RNSNLVGAAHEELQQSRIRI  D SLSAQLSQLQKQLAAKEAKL
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                         RNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL

Mouse                         RNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL

Rat                           RNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL

Pig                           RNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKL

Chicken                       RNSSMAGAAHEELQQTHIRIDSLSAELSQLQKQLAAKEAKL

Xenopus laevis                RNSSLVGEAQEEIQQSRIRIDSLSAQLSQLQKQLAAREAKL

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 31 – 387 IF rod
Region 243 – 383 Coil 2
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


Literature citations

LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset.
Kane M.S.; Lindsay M.E.; Judge D.P.; Barrowman J.; Ap Rhys C.; Simonson L.; Dietz H.C.; Michaelis S.;
Am. J. Med. Genet. A 161:1599-1611(2013)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN HGPS; VARIANT HGPS GLY-300; CHARACTERIZATION OF VARIANT HGPS GLY-300;

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.