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UniProtKB/Swiss-Prot Q07954: Variant p.Gln2900Pro

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

Variant position:  2900
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 Glutamine (Q) to Proline (P) at position 2900 (Q2900P, p.Gln2900Pro).
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 polar (Q) to medium size and hydrophobic (P)
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

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



Sequence information

Variant position:  2900
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:   GENDCHDQSDEAPKNPHCTS  Q EHKCNASSQFLCSSGRCVAE
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                         GENDCHDQSDEAPKNPHCTSQEHKCNASSQFLCSSGRCVAE

Mouse                         GENDCHDHSDEAPKNPHCTSPEHKCNASSQFLCSSGRCVAE

Rat                           GENDCHDHSDEAPKNPHCTSPEHKCNASSQFLCSSGRCVAE

Chicken                       GEFDCHDHSDEAPKNPRCSSPESKCN-DSFFMCKNGKCIPE

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

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 20 – 3943 Low-density lipoprotein receptor-related protein 1 515 kDa subunit
Topological domain 20 – 4419 Extracellular
Glycosylation 2905 – 2905 N-linked (GlcNAc...) asparagine
Alternative sequence 293 – 4544 Missing. In isoform 2.


Literature citations

Surface location and high affinity for calcium of a 500-kd liver membrane protein closely related to the LDL-receptor suggest a physiological role as lipoprotein receptor.
Herz J.; Hamann U.; Rogne S.; Myklebost O.; Gausepohl H.; Stanley K.K.;
EMBO J. 7:4119-4127(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PRO-2900;

Strategy to sequence the 89 exons of the human LRP1 gene coding for the lipoprotein receptor related protein: identification of one expressed mutation among 48 polymorphisms.
Van Leuven F.; Stas L.; Thiry E.; Nelissen B.; Miyake Y.;
Genomics 52:138-144(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-2900;

Submission
NHLBI resequencing and genotyping service (RS&G);
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-2900;

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.