Variant position: 1245 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:
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 SYCAKHLKCSQKCDQNKFSV KCSCYEGWVLEPDGESCRSLD
Mouse SYCAKHLKCSQKCDQNKFSV KCSCYEGWVLEPDGESCRSLD
Rat SYCAKHLKCSQKCDQNKFSV KCSCYEGWVLEPDGESCRSLD
Chicken SYCAKHLKCSQKCEQDKYNV KCSCYEGWMLEPDGESCRSLD
Baker's yeast -------------------- -----------------KALD
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.
Type Positions Description
20 – 4544 Prolow-density lipoprotein receptor-related protein 1
20 – 3943 Low-density lipoprotein receptor-related protein 1 515 kDa subunit
20 – 4419 Extracellular
1223 – 1262 EGF-like 6
1233 – 1246
293 – 4544 Missing. In isoform 2.
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
Klar J.; Schuster J.; Khan T.N.; Jameel M.; Maebert K.; Forsberg L.; Baig S.A.; Baig S.M.; Dahl N.;
J. Med. Genet. 52:599-606(2015)
Cited for: VARIANT KPA ARG-1245; CHARACTERIZATION OF VARIANT KPA ARG-1245; FUNCTION; INVOLVEMENT IN KPA;
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.