Variant position: 175 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 184 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 GGPRGSSETVGAALLLNLLA GLGAMGARRP
Mouse GYPSGWTKFGNIALLLSFFT CLWASGA---
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
152 – 184 Removed in mature form
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.
Charriere S.; Peretti N.; Bernard S.; Di Filippo M.; Sassolas A.; Merlin M.; Delay M.; Debard C.; Lefai E.; Lachaux A.; Moulin P.; Marcais C.;
J. Clin. Endocrinol. Metab. 96:E1675-E1679(2011)
Cited for: VARIANTS HLPP1D PHE-89 AND ARG-175; VARIANT PHE-14; CHARACTERIZATION OF VARIANTS HLPP1D PHE-89 AND ARG-175; CHARACTERIZATION OF VARIANT PHE-14;
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