Variant position: 277 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 409 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 YLAPGDYHCFHSPTDWTVSH RRHFPGSLMSVNPGMARWIKE
Mouse YLAPGDYHCFHSPTDWTISH RRHFPGSLMSVNPGMARWIKE
Rat YLAPGDYHCFHSPTDWTVSH RRHFPGSLMSVNPGMARWIKE
Bovine YLAPGDYHCFHSPTDWTVSH RRHFPGSLMSVNPGMARWIKE
Caenorhabditis elegans YLAPGDYHAFHSPARWVANQ CRHVPGLLLSVRPTLLSHVPH
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
53 – 409 Phosphatidylserine decarboxylase proenzyme, mitochondrial
53 – 377 Phosphatidylserine decarboxylase beta chain
83 – 409 Mitochondrial intermembrane
267 – 267 Charge relay system; for autoendoproteolytic cleavage activity
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.
Zhao T.; Goedhart C.M.; Sam P.N.; Sabouny R.; Lingrell S.; Cornish A.J.; Lamont R.E.; Bernier F.P.; Sinasac D.; Parboosingh J.S.; Vance J.E.; Claypool S.M.; Innes A.M.; Shutt T.E.;
Life. Sci Alliance 2:0-0(2019)
Cited for: VARIANT LIBF GLN-277; CHARACTERIZATION OF VARIANTS LIBF GLN-277 AND TYR-300; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBCELLULAR LOCATION; PROTEOLYTIC CLEAVAGE; MUTAGENESIS OF SER-378;
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.