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UniProtKB/Swiss-Prot Q07954: Variant p.Glu4536Gly

Prolow-density lipoprotein receptor-related protein 1
Gene: LRP1
Variant information

Variant position:  4536
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Glutamate (E) to Glycine (G) at position 4536 (E4536G, p.Glu4536Gly).
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 (E) to glycine (G)
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

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



Sequence information

Variant position:  4536
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  4544
The length of the canonical sequence.

Location on the sequence:   GSRHSLASTDEKRELLGRGP  E DEIGDPLA
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                         GSRHSLASTDEKRELLGRGPEDEIGDPLA

Mouse                         GSRHSLASTDEKRELLGRGPEDEIGDPLA

Rat                           GSRHSLASTDEKRELLGRGPEDEIGDPLA

Chicken                       SSRNSLASTDEKRELLARGADDDLTDPLA

Baker's yeast                 -----------------------------

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 20 – 4544 Prolow-density lipoprotein receptor-related protein 1
Chain 3944 – 4544 Low-density lipoprotein receptor-related protein 1 85 kDa subunit
Chain 4441 – 4544 Low-density lipoprotein receptor-related protein 1 intracellular domain
Topological domain 4445 – 4544 Cytoplasmic
Region 4445 – 4544 Interaction with MAFB
Modified residue 4517 – 4517 Phosphoserine
Modified residue 4520 – 4520 Phosphoserine
Modified residue 4523 – 4523 Phosphoserine
Alternative sequence 293 – 4544 Missing. In isoform 2.
Mutagenesis 4517 – 4517 S -> A. Strongly reduced phosphorylation and loss of interaction with SHC1; when associated with A-4460; A-4520 and A-4523.
Mutagenesis 4520 – 4520 S -> A. Strongly reduced phosphorylation and loss of interaction with SHC1; when associated with A-4460; A-4517 and A-4523.
Mutagenesis 4523 – 4523 S -> A. Strongly reduced phosphorylation and loss of interaction with SHC1; when associated with A-4460; A-4517 and A-4520.


Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

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.