Variant position: 152 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 SFNIFYELFTICTSIVAEDK KGHLIHGRNMDFGVFLGWNIN
Chimpanzee SFNIFYELFTICTSIVAEDK KGHLIHGRNMDFGVFLGWNIN
Mouse SFNIFYELFTMCTSIITEDE KGHLLHGRNMDFGIFLGWNIN
Rat SFNIFYELFTMCTSIITEDG KGHLLHGRNMDFGIFLGWNIN
Bovine LFNIFYEFFTICTSIITEDK EGHLLHGRNLDFGVFLGWNIN
Caenorhabditis elegans MYNIFYEIFTVCTSVIAQDK DGHVFHARNLDFGLFMGWDPV
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
143 – 395 Acid ceramidase subunit beta
143 – 143 Nucleophile
162 – 162 Important for catalytic activity
31 – 340 Interchain (between alpha and beta subunits)
141 – 141 T -> A. Decreased rate of autocatalytic processing.
143 – 143 C -> A. Loss of autocatalytic processing. Loss of ceramidase activity.
159 – 159 R -> Q. Strongly decreased autocatalytic processing. Moderately decreased ceramidase activity.
162 – 162 D -> N. Strongly decreased autocatalytic processing. Strongly decreased ceramidase activity.
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment D.A.; Sell E.; Vanstone M.R.; Smith A.C.; Garandeau D.; Garcia V.; Carpentier S.; Le Trionnaire E.; Sabourdy F.; Beaulieu C.L.; Schwartzentruber J.A.; McMillan H.J.; Majewski J.; Bulman D.E.; Levade T.; Boycott K.M.;
Clin. Genet. 86:558-563(2014)
Cited for: VARIANTS SMAPME ASN-152 AND 284-GLY--TRP-395 DEL;
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.