Sequence information
Variant position: 288 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:
VGCVNVTLCEGPNKFKCHSG
E CITLDKVCNMARDCRDWSDE
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 VGCVNVTLCEGPNKFKCHSGE CITLDKVCNMARDCRDWSDE
Mouse LGCVNVTQCDGPNKFKCHSGE CISLDKVCDSARDCQDWSDE
Rat LGCINVTQCDGPNKFKCHSGE CISLDKVCNSARDCRDWSDE
Bovine LGCVNVTLCEGPNKFKCQSGE CISLDKVCNSVRDCRDWSDE
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
274 – 313
LDL-receptor class A 7
Glycosylation
272 – 272
N-linked (GlcNAc...) asparagine
Disulfide bond
276 – 289
Disulfide bond
284 – 302
Alternative sequence
273 – 273
V -> L. In isoform 3.
Literature citations
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 FHCL1 SER-50; ASN-221; LYS-288; VAL-432 AND HIS-564;
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.