Sequence information
Variant position: 116 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:
DNGSDEQGCPPKTCSQDEFR
C HDGKCISRQFVCDSDRDCLD
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 DNGSDEQGCPPKTCSQDEFRC HDGKCISRQFVCDSDRDCLD
Mouse ENDSDEQGCPPKTCSQDDFRC QDGKCISPQFVCDGDRDCLD
Rat ENGSDELDCSPKTCSLDEFRC QDGKCISRQFVCDQDWDCLD
Bovine ENGSDEEGCSPKTCSQDEFRC NDGKCIAPKFVCDLDLDCLD
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
107 – 145
LDL-receptor class A 3
Glycosylation
97 – 97
N-linked (GlcNAc...) asparagine
Disulfide bond
109 – 121
Disulfide bond
116 – 134
Alternative sequence
35 – 155
Missing. In isoform 6.
Alternative sequence
105 – 272
Missing. In isoform 3.
Alternative sequence
106 – 232
Missing. In isoform 2.
Literature citations
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia.
Cenarro A.; Jensen H.K.; Casao E.; Civeira F.; Gonzalez-Bonillo J.; Rodriguez-Rey J.C.; Gregersen N.; Pocovi M.;
Hum. Mutat. 11:413-413(1998)
Cited for: VARIANTS FHCL1 GLU-92; GLY-95; ARG-116; LEU-177; GLY-221; TYR-221; LYS-277; TYR-302; LYS-434; TYR-667 AND GLU-700;
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.