UniProtKB/Swiss-Prot Q03252: Variant p.Ala407Thr

Lamin-B2
Gene: LMNB2
Chromosomal location: 19p13.3
Variant information

Variant position:  407
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Alanine (A) to Threonine (T) at position 407 (A407T, p.Ala407Thr).
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 small size and hydrophobic (A) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Involvement in disease:  Partial acquired lipodystrophy (APLD) [MIM:608709]: A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Mental retardation in some cases. APLD is a sporadic disorder of unknown etiology. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

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

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



Sequence information

Variant position:  407
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  600
The length of the canonical sequence.

Location on the sequence:   SPSSRVTVSRATSSSSGSLS  A TGRLGRSKRKRLEVEEPLGS
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                         SPSSRVTVSRATSSSSGSLSA--TGRLGRSKRKRLEVEEPLGS

Mouse                         SPSSRITISRATSSSSSSSGVGMSVGQGRGKRRRLETEDTS

Chicken                       SPSSRVTVSRATSSSSSSSTS--LVRSSRGKRRRIEAEELS

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 – 597 Lamin-B2
Region 381 – 600 Tail
Modified residue 400 – 400 Phosphoserine
Modified residue 402 – 402 Phosphoserine
Modified residue 404 – 404 Phosphoserine
Modified residue 406 – 406 Phosphoserine


Literature citations

Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
Hegele R.A.; Cao H.; Liu D.M.; Costain G.A.; Charlton-Menys V.; Rodger N.W.; Durrington P.N.;
Am. J. Hum. Genet. 79:383-389(2006)
Cited for: VARIANTS APLD GLN-215 AND THR-407;

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.