Sequence information
Variant position: 97 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:
VNSLKNMINTFVPSGKIMQV
V DEKLPGLLGNFPGPFEEEMK
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 VNSLKNMINTFVPSGKIMQVV DEKLPGLLGNFPGPFEEEMK
Chimpanzee VNSLKNMINTFVPSGKIVQVV DEKLPGLLGNFPGPFEEEMK
Mouse VNSITSLVNTFVPSGKLMKMV DQKLPGMIGSLPDPFGEEMR
Rat VNSISNLVNAFVPSGKIMQMV DEKLPGLIGSIPGPFGEEMR
Bovine VNSMKNIVNAFVPSGKIIHLV DQKLPGLLGNFPGPFEEEMK
Caenorhabditis elegans IGVLINLITPWFPNA--IDFV DDVFGDLAPKLAQPYRDEIF
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
Chain
22 – 142
Acid ceramidase subunit alpha
Disulfide bond
31 – 340
Interchain (between alpha and beta subunits)
Alternative sequence
73 – 101
Missing. In isoform 3.
Mutagenesis
80 – 80
L -> Q. No effect on autocatalytic processing, but loss of ceramidase activity, when associated with 165-Q--Q-167.
Helix
90 – 105
Literature citations
Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.
Chedrawi A.K.; Al-Hassnan Z.N.; Al-Muhaizea M.; Colak D.; Al-Younes B.; Albakheet A.; Tulba S.; Kaya N.;
Brain Dev. 34:400-404(2012)
Cited for: VARIANT FRBRL GLY-97;
Disclaimer:
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.