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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NR71: Variant p.Ala346Ser

Neutral ceramidase
Gene: ASAH2
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Variant information Variant position: help 346
Type of variant: help LB/B
Residue change: help From Alanine (A) to Serine (S) at position 346 (A346S, p.Ala346Ser).
Physico-chemical properties: help Change from small size and hydrophobic (A) to small size and polar (S)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 346
Protein sequence length: help 780
Location on the sequence: help LEQEKNKGYLPGQGPFVAAF A SSNLGDVSPNILGPRCINTG
Residue conservation: help
Human                         LEQEKNKGYLPGQ-GPFVAAFASSNLGDVSPNILGPRCINTG

Mouse                         FEQEKNKGYLPGQ-GPFVAGFASSNLGDVSPNILGPHCVNT

Rat                           FEQEKNRGYLPGQ-GPFVAGFASSNLGDVSPNILGPHCVNT

Zebrafish                     FEQEKNIGFLPGEKGPFVAGFSSSNLGDSSPNIRGPVCVNT

Caenorhabditis elegans        KKVSVNINFFKN-----------------------------

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 780 Neutral ceramidase
Chain 99 – 780 Neutral ceramidase soluble form
Topological domain 34 – 780 Lumenal
Active site 354 – 354 Nucleophile
Mutagenesis 352 – 352 D -> S. Loss of ceramide hydrolase activity.
Mutagenesis 354 – 354 S -> A. Loss of ceramide hydrolase activity.
Mutagenesis 362 – 362 C -> A. Loss of ceramide hydrolase activity.
Beta strand 342 – 346



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.