Variant position: 140 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 KCISRQFVCDSDRDCLDGSD EASCPVLTCGPASFQCNSSTC
Mouse KCISPQFVCDGDRDCLDGSD EAHCQATTCGPAHFRCNSSIC
Rat KCISRQFVCDQDWDCLDGSD EAHCAATTCGPAHFRCNSSSC
Bovine KCIAPKFVCDLDLDCLDGSD EASCPMPTCGPANFQCNSSMC
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
22 – 788 Extracellular
107 – 145 LDL-receptor class A 3
156 – 156 N-linked (GlcNAc...) asparagine
128 – 143
35 – 155 Missing. In isoform 6.
105 – 272 Missing. In isoform 3.
106 – 232 Missing. In isoform 2.
138 – 142
Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
Rubinsztein D.C.; Jialal I.; Leitersdorf E.; Coetzee G.A.; van der Westhuyzen D.R.;
Biochim. Biophys. Acta 1182:75-82(1993)
Cited for: VARIANTS FHCL1 TYR-90 AND LYS-140;
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
Maruyama T.; Miyake Y.; Tajima S.; Harada-Shiba M.; Yamamura T.; Tsushima M.; Kishino B.; Horiguchi Y.; Funahashi T.; Matsuzawa Y.; Yamamoto A.;
Arterioscler. Thromb. Vasc. Biol. 15:1713-1718(1995)
Cited for: VARIANTS FHCL1 LYS-140; SER-338 AND LEU-685;
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.;
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;
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.