Sequence information
Variant position: 172 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 860 The length of the canonical sequence.
Location on the sequence:
SFQCNSSTCIPQLWACDNDP
D CEDGSDEWPQRCRGLYVFQG
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 SFQCNSSTCIPQLWACDNDPD CEDGSDEWPQRCRGLYVFQ--G
Mouse HFRCNSSICIPSLWACDGDVD CVDGSDEWPQNCQGRDTASK
Rat HFRCNSSSCIPSLWACDGDRD CDDGSDEWPQNCGAEDTAAE
Bovine NFQCNSSMCIPQLWACDGDPD CDDGSDEWPKHCGTPHPSGP
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
Chain
22 – 860
Low-density lipoprotein receptor
Topological domain
22 – 788
Extracellular
Domain
146 – 186
LDL-receptor class A 4
Glycosylation
156 – 156
N-linked (GlcNAc...) asparagine
Disulfide bond
155 – 173
Disulfide bond
167 – 184
Alternative sequence
105 – 272
Missing. In isoform 3.
Alternative sequence
106 – 232
Missing. In isoform 2.
Literature citations
Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
Jensen H.K.; Jensen L.G.; Meinertz H.; Hansen P.S.; Gregersen N.; Faergeman O.;
Atherosclerosis 146:337-344(1999)
Cited for: VARIANTS FHCL1 GLY-87; LYS-140; ASN-172; ARG-243; LEU-306; PRO-404; HIS-564; SER-577; ASN-579; ILE-726 AND LYS-825;
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
Etxebarria A.; Benito-Vicente A.; Stef M.; Ostolaza H.; Palacios L.; Martin C.;
Atherosclerosis 238:304-312(2015)
Cited for: CHARACTERIZATION OF VARIANTS FHCL1 ARG-116; ASN-168; ASN-172; GLY-300 AND GLY-301; CHARACTERIZATION OF VARIANT TRP-257;
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.