Variant position: 182 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 658 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 EDFLHDLK-ETNI--SYSQEADD RVFRAHGHCLHEIFLLREGMF
Mouse EDFLQELK-EARI--SYSQEADD RVFRAHGHCLHEIFLLRE
Rat EDFLQELK-EAHI--SYSQDADD RVFRAHGHCLHEIFLLRE
Caenorhabditis elegans EDIIEFLQ-ENKI--SFSNEARI RLMRGHGHTVHDMINLRE
Drosophila APFLHELKGTTQV--DYSAEGID RLVRCHGQTLNDIYSLWH
Slime mold PEFVRELK-AFFLPDQLKDDKLA RITHTFGKSLRDLIRVRI
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
59 – 658 Alkyldihydroxyacetonephosphate synthase, peroxisomal
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
Itzkovitz B.; Jiralerspong S.; Nimmo G.; Loscalzo M.; Horovitz D.D.; Snowden A.; Moser A.; Steinberg S.; Braverman N.;
Hum. Mutat. 33:189-197(2012)
Cited for: VARIANTS RCDP3 GLN-182; LYS-471 AND MET-568; CHARACTERIZATION OF VARIANTS RCDP3 GLN-182; LYS-471 AND MET-568;
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.