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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20700: Variant p.Ala152Gly

Lamin-B1
Gene: LMNB1
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Variant information Variant position: help 152 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 Alanine (A) to Glycine (G) at position 152 (A152G, p.Ala152Gly). 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 small size and hydrophobic (A) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In MCPH26; decreased protein abundance; changed localization to nuclear lamina; changed nuclear envelope organization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 152 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 586 The length of the canonical sequence.
Location on the sequence: help QIKLREYEAALNSKDAALAT A LGDKKSLEGDLEDLKDQIAQ 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                         QIKLREYEAALNSKDAALATALGDKKSL-----EGDLEDLKDQIAQ

Mouse                         QIKLREYEAALNSKDAALATALGDKKSL-----EGDLEDLK

Rat                           QIKLREYEAALNSKDAALATALGDKKSL-----EGDLEDLK

Chicken                       QVKLREFEAALNAKEAALATALGDKRSQ-----EEELEDLR

Xenopus laevis                QARFRETEALLNSKNAALATAQSENKSL-----QGEVEDLK

Slime mold                    LIEEQNQNSDLTSNRNILENELKSKESVWKKEKDEILLKFQ
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 2 – 583 Lamin-B1
Domain 32 – 388 IF rod
Region 82 – 215 Coil 1B
Modified residue 157 – 157 N6-acetyllysine; alternate
Modified residue 158 – 158 Phosphoserine
Cross 145 – 145 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross 157 – 157 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate



Literature citations
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Cristofoli F.; Moss T.; Moore H.W.; Devriendt K.; Flanagan-Steet H.; May M.; Jones J.; Roelens F.; Fons C.; Fernandez A.; Martorell L.; Selicorni A.; Maitz S.; Vitiello G.; Van der Hoeven G.; Skinner S.A.; Bollen M.; Vermeesch J.R.; Steet R.; Van Esch H.;
Am. J. Hum. Genet. 107:753-762(2020)
Cited for: INVOLVEMENT IN MCPH26; VARIANTS MCPH26 GLU-33; TRP-42 AND GLY-152; VARIANT THR-33; CHARACTERIZATION OF VARIANTS MCPH26 GLU-33; TRP-42 AND GLY-152; CHARACTERIZATION OF VARIANT ADLDTY TRP-29; CHARACTERIZATION OF VARIANT THR-33; SUBCELLULAR LOCATION; FUNCTION;
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.