Variant position: 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 460 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 VKILANGLLQLGHGLKDFVH KTKGQINDIFQKLNIFDQSFY
Mouse VKILANGLLQLGHGLKDFVH KTKGQINDIFQKLNIFDQSFY
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
17 – 460 Angiopoietin-related protein 3
17 – 224 ANGPTL3(17-224)
17 – 221 ANGPTL3(17-221)
17 – 207 Sufficient to inhibit LIPG/EL phospholipase activity
17 – 165 Sufficient to inhibit LPL lipase activity
62 – 63 HK -> IN. Abolishes effect on plasma triglyceride level; when associated with N-65.
63 – 63 K -> N. Abolishes inhibitory effect on LIPG/EL phospholipase activity; when associated with N-65.
65 – 65 K -> N. Abolishes effect on plasma triglyceride level; when associated with 62-I-N-63.
65 – 65 K -> N. Abolishes inhibitory effect on LIPG/EL phospholipase activity; when associated with N-63.
Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.
Romeo S.; Yin W.; Kozlitina J.; Pennacchio L.A.; Boerwinkle E.; Hobbs H.H.; Cohen J.C.;
J. Clin. Invest. 119:70-79(2009)
Cited for: VARIANTS THR-63; GLY-91; PHE-164; SER-173; THR-259; GLN-288; PRO-292; LYS-375 AND CYS-417; CHARACTERIZATION OF VARIANTS THR-63; GLY-91; PHE-164; SER-173; THR-259; ARG-GLN; PRO-292; LYS-375 AND CYS-417;
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.