Sequence information
Variant position: 451 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:
ALDTEVASNRIYWSDLSQRM
I CSTQLDRAHGVSSYDTVISR
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 ALDTEVASNRIYWSDLSQRMI CSTQLDRAHGVSSYDTVISR
Mouse ALDTEVTNNRIYWSDLSQKKI YSALMDQAPNLS-YDTIISE
Rat ALDTEVANNRIYWSDLSQRKI YSAVMDQGTSLS-YDAIISG
Bovine ALDTEVASNRIYWSDLSQRKI YSAQIDGAPGFSSYDTVIGE
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
Repeat
439 – 485
LDL-receptor class B 2
Beta strand
450 – 455
Literature citations
Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
Miltiadous G.; Elisaf M.; Xenophontos S.; Manoli P.; Cariolou M.A.;
Hum. Mutat. 16:277-277(2000)
Cited for: VARIANT FHCL1 THR-451;
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
Abifadel M.; Rabes J.-P.; Jambart S.; Halaby G.; Gannage-Yared M.-H.; Sarkis A.; Beaino G.; Varret M.; Salem N.; Corbani S.; Aydenian H.; Junien C.; Munnich A.; Boileau C.;
Hum. Mutat. 30:E682-E691(2009)
Cited for: VARIANTS FHCL1 PRO-254; TYR-356; TYR-358; THR-451 AND SER-826;
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.