Variant position: 806 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:
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 SVRALSIVLPIVLLVFLCLG VFLLWKNWRLKNINSINFDNP
Mouse GMRFLSIFFPIALVALLVLG AVLLWRNWRLKNINSINFDNP
Rat GVGFLSIFLPIALVALLVFG AILLWRNWRLRNINSINFDNP
Bovine SVGALYIVLPIALLILLAFG TFLLWKNWRLKSINSINFDNP
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
22 – 860 Low-density lipoprotein receptor
789 – 810 Helical
811 – 811 K -> R. No change. No change; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816; R-830 and A-839.
816 – 816 K -> R. No change. No change; when associated with R-830. No change; when associated with R-811 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-830 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-830 and A-839.
821 – 821 I -> A. 3-fold decreased affinity for LDLRAP1.
821 – 821 I -> R. 10-fold decreased affinity for LDLRAP1.
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
Nauck M.S.; Koester W.; Doerfer K.; Eckes J.; Scharnagl H.; Gierens H.; Nissen H.; Nauck M.A.; Wieland H.; Maerz W.;
Hum. Mutat. 18:165-166(2001)
Cited for: INVOLVEMENT IN FHCL1; VARIANTS FHCL1 ARG-143; TYR-148; TRP-184; CYS-574; ASP-639 AND ASP-806; VARIANTS TRP-257 AND ILE-742;
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.