Variant position: 300 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 NKFKCHSGECITLDKVCNMA RDCRDWSDEPIKECGTNECLD
Mouse NKFKCHSGECISLDKVCDSA RDCQDWSDEPIKECKTNECLD
Rat NKFKCHSGECISLDKVCNSA RDCRDWSDEPIKECKTNECLD
Bovine NKFKCQSGECISLDKVCNSV RDCRDWSDEPLKDCGTNECLD
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.
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
Alonso R.; Defesche J.C.; Tejedor D.; Castillo S.; Stef M.; Mata N.; Gomez-Enterria P.; Martinez-Faedo C.; Forga L.; Mata P.;
Clin. Biochem. 42:899-903(2009)
Cited for: VARIANTS FH TYR-155; GLY-300; GLY-301; TRP-416 AND ASN-454;
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
Etxebarria A.; Benito-Vicente A.; Stef M.; Ostolaza H.; Palacios L.; Martin C.;
Cited for: CHARACTERIZATION OF VARIANTS FH ARG-116; ASN-168; ASN-172; GLY-300 AND GLY-301; CHARACTERIZATION OF VARIANT TRP-257;
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.