Variant position: 241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 275 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 LSMGMSADFQHAVEVGSTNV RIGSTIFGERDYSKKPTPDKC
Mouse LSMGMSMDFQHAIEVGSTNV RIGSTIFGERDYSKKPALDK-
Bovine LSMGMSVDFQHAIEVGSTNV RIGSTIFGERDYSKKT--DKP
Caenorhabditis elegans LSMGMSDDFLQAIHQGATSV RVGSKLFGAREYKNK------
Slime mold LSMGMSHDFEPAIEFGSTSV RVGSAIFGERDYSNKK-----
Baker's yeast LSMGMSADFREAIRQGTAEV RIGTDIFGARPPKNEARII--
Fission yeast LSMGMSSDYLLAIKYGSDSV RVGSSIFGSRPTEKPSDVHIS
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
1 – 275 Pyridoxal phosphate homeostasis protein
226 – 226 Phosphoserine
244 – 244 Phosphoserine
Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B6-dependent epilepsy.
Darin N.; Reid E.; Prunetti L.; Samuelsson L.; Husain R.A.; Wilson M.; El Yacoubi B.; Footitt E.; Chong W.K.; Wilson L.C.; Prunty H.; Pope S.; Heales S.; Lascelles K.; Champion M.; Wassmer E.; Veggiotti P.; de Crecy-Lagard V.; Mills P.B.; Clayton P.T.;
Am. J. Hum. Genet. 99:1325-1337(2016)
Cited for: INVOLVEMENT IN EPVB6D; FUNCTION; VARIANTS EPVB6D 71-GLN--HIS-275 DEL; 78-SER--HIS-275 DEL; LEU-87; PRO-175 AND GLN-241; CHARACTERIZATION OF VARIANTS EPVB6D 78-SER--HIS-275 DEL AND PRO-175;
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.