Variant position: 221 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 EFHCLSGECIHSSWRCDGGP DCKDKSDEENCAVATCRPDEF
Mouse EFHCGSSECIHRSWVCDGEA DCKDKSDEEHCAVATCRPDEF
Rat EFHCGSSECIHRSWVCDGAA DCKDKSDEENCAVTTCRPDEF
Bovine EFHCGSGECIHSSWHCDHDP DCKDKSDEENCAVATCRPDEF
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
195 – 233 LDL-receptor class A 5
204 – 222
216 – 231
105 – 272 Missing. In isoform 3.
106 – 232 Missing. In isoform 2.
Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations.
Ebhardt M.; Schmidt H.; Doerk T.; Tietge U.; Haas R.; Manns M.-P.; Schmidtke J.; Stuhrmann M.;
Hum. Mutat. 13:257-257(1999)
Cited for: VARIANTS FH SER-50; ASN-221; LYS-288; VAL-432 AND HIS-564;
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 FH TYR-89; LYS-101; GLY-218 DEL; GLY-221; ASN-221; TYR-358; PRO-479; HIS-482; ARG-677 AND LEU-685; FUNCTION;
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.