Sequence information
Variant position: 101 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:
RCIPQFWRCDGQVDCDNGSD
E QGCPPKTCSQDEFRCHDGKC
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 RCIPQFWRCDGQVDCDNGSDE QGCPPKTCSQDEFRCHDGKC
Mouse RCIPDSWRCDGQVDCENDSDE QGCPPKTCSQDDFRCQDGKC
Rat RCIPDSWRCDGRTDCENGSDE LDCSPKTCSLDEFRCQDGKC
Bovine RCISGSWRCDGQVDCENGSDE EGCSPKTCSQDEFRCNDGKC
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
66 – 106
LDL-receptor class A 2
Glycosylation
97 – 97
N-linked (GlcNAc...) asparagine
Disulfide bond
89 – 104
Alternative sequence
35 – 155
Missing. In isoform 6.
Alternative sequence
64 – 105
LSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGCP -> S. In isoform 4.
Helix
99 – 101
Literature citations
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
Day I.N.M.; Whittall R.A.; O'Dell S.D.; Haddad L.; Bolla M.K.; Gudnason V.; Humphries S.E.;
Hum. Mutat. 10:116-127(1997)
Cited for: VARIANTS FHCL1 TRP-27; CYS-78; GLY-87; TYR-89; ASN-90; GLY-90; LYS-101; TYR-160; ASN-168; LEU-177; GLY-221; GLU-227; ARG-286; TYR-313; TYR-327; ASN-342; PRO-350; ASP-399; TRP-416; HIS-482; ARG-483; SER-526; ASP-549; CYS-633; LEU-649 AND ILE-726;
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
Humphries S.E.; Whittall R.A.; Hubbart C.S.; Maplebeck S.; Cooper J.A.; Soutar A.K.; Naoumova R.; Thompson G.R.; Seed M.; Durrington P.N.; Miller J.P.; Betteridge D.J.B.; Neil H.A.W.;
J. Med. Genet. 43:943-949(2006)
Cited for: VARIANTS FHCL1 TYR-89; LYS-101; GLY-218 DEL; GLY-221; ASN-221; TYR-358; PRO-479; HIS-482; ARG-677 AND LEU-685; FUNCTION;
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.