UniProtKB/SwissProt variant VAR

Neutral ceramidase
Gene: ASAH2
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Variant information Variant position:

346
Type of variant:

LB/B
Residue change:

From Alanine (A) to Serine (S) at position 346 (A346S, p.Ala346Ser).
Physico-chemical properties:

Change from small size and hydrophobic (A) to small size and polar (S)
BLOSUM score:

1
Other resources:

Variant rs1052952953 [ dbSNP | Ensembl ]

Sequence information Variant position:

346
Protein sequence length:

780
Location on the sequence:

LEQEKNKGYLPGQGPFVAAF A SSNLGDVSPNILGPRCINTG
Residue conservation:

Human                         LEQEKNKGYLPGQ-GPFVAAFASSNLGDVSPNILGPRCINTG

Mouse                         FEQEKNKGYLPGQ-GPFVAGFASSNLGDVSPNILGPHCVNT

Rat                           FEQEKNRGYLPGQ-GPFVAGFASSNLGDVSPNILGPHCVNT

Zebrafish                     FEQEKNIGFLPGEKGPFVAGFSSSNLGDSSPNIRGPVCVNT

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

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NR71: Variant p.Ala346Ser