Variant position: 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 395 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 QHAPPWTEDC----RKSTYPPSGP TYRGAVPWYTINLDLPPYKRW
Chimpanzee QHAPPWTEDC----RKSTYPPSGP TYRGPVPWYTINLDLPP
Mouse QDVPPWTEDC----RKSTYPPSGP TYRGPVPWHTINLDLPP
Rat QQVPPWTEDC----RKSTYPPSGP TYRGPVPWYTINLDLPP
Bovine QQVPPWTEDC----RKSTYPPSGP TYRGPVPWYTINLDLPP
Caenorhabditis elegans ELPAPFKDHCILDDKQNLYDPSKQ F---DIKWYDVNLDLPP
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
22 – 142 Acid ceramidase subunit alpha
31 – 340 Interchain (between alpha and beta subunits)
42 – 42 T -> TVFPAVIR. In isoform 3.
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.
Zhou J.; Tawk M.; Tiziano F.D.; Veillet J.; Bayes M.; Nolent F.; Garcia V.; Servidei S.; Bertini E.; Castro-Giner F.; Renda Y.; Carpentier S.; Andrieu-Abadie N.; Gut I.; Levade T.; Topaloglu H.; Melki J.;
Am. J. Hum. Genet. 91:5-14(2012)
Cited for: VARIANT SMAPME MET-42; CHARACTERIZATION OF VARIANT SMAPME MET-42; CATALYTIC ACTIVITY;
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.