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UniProtKB/Swiss-Prot Q13510: Variant p.Asp124Glu

Acid ceramidase
Gene: ASAH1
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Variant information Variant position: help 124
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Glutamate (E) at position 124 (D124E, p.Asp124Glu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 124
Protein sequence length: help 395
Location on the sequence: help LLGNFPGPFEEEMKGIAAVT D IPLGEIISFNIFYELFTICT
Residue conservation: help 
Human                         LLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICT

Chimpanzee                    LLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICT

Mouse                         MIGSLPDPFGEEMRGIADVTGIPLGEIISFNIFYELFTMCT

Rat                           LIGSIPGPFGEEMRGIADVTGIPLGEIISFNIFYELFTMCT

Bovine                        LLGNFPGPFEEEMKGIAAVTEIPLGEIILFNIFYEFFTICT

Caenorhabditis elegans        LAPKLAQPYRDEIFSIANATGIPLGQITMYNIFYEIFTVCT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 22 – 142 Acid ceramidase subunit alpha
Active site 143 – 143 Nucleophile
Disulfide bond 31 – 340 Interchain (between alpha and beta subunits)
Mutagenesis 141 – 141 T -> A. Decreased rate of autocatalytic processing.
Mutagenesis 143 – 143 C -> A. Loss of autocatalytic processing. Loss of ceramidase activity.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.