UniProtKB/Swiss-Prot Q13510: Variant p.Val72Met

Acid ceramidase
Gene: ASAH1
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Variant information Variant position:

72 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Valine (V) to Methionine (M) at position 72 (V72M, p.Val72Met). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs1071645 [ dbSNP | Ensembl ]

Sequence information Variant position:

72 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:

INLDLPPYKRWHELMLDKAP V LKVIVNSLKNMINTFVPSGK 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                         INLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGK

Chimpanzee                    INLDLPPYKRWHELMLDKAPMLKVIVNSLKNMINTFVPSGK

Mouse                         INLDLPPYKRWHELLAQKAPALRILVNSITSLVNTFVPSGK

Rat                           INLDLPPYKRWHELLAHKAPVLRTLVNSISNLVNAFVPSGK

Bovine                        INLDLPPYKRWHELMVVKAPALKVIVNSMKNIVNAFVPSGK

Caenorhabditis elegans        VNLDLPPSERWVQIATANKEHIADLIGVLINLITPWFPNA-

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)
Mutagenesis	80 – 80	L -> Q. No effect on autocatalytic processing, but loss of ceramidase activity, when associated with 165-Q--Q-167.
Helix	63 – 87

Literature citations
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease.
Koch J.; Gaertner S.; Li C.M.; Quintern L.E.; Bernardo K.; Levran O.; Schnabel D.; Desnick R.J.; Schuchman E.H.; Sandhoff K.;
J. Biol. Chem. 271:33110-33115(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; VARIANT FRBRL LYS-222; VARIANTS MET-72; VAL-93 AND ALA-246; GLYCOSYLATION; CATALYTIC ACTIVITY; A new gene family predicted by a novel human heart cDNA.
Churchill J.R.; Wieland S.J.; Hoffman S.; Gallin E.K.; Murphy P.M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MET-72; VAL-93 AND ALA-246; Human acid ceramidase gene: novel mutations in Farber disease.
Zhang Z.; Mandal A.K.; Mital A.; Popescu N.; Zimonjic D.; Moser A.; Moser H.; Mukherjee A.B.;
Mol. Genet. Metab. 70:301-309(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS FRBRL HIS-22; ASP-23; VAL-138; LYS-222 AND ASP-320; VARIANTS MET-72; VAL-93 AND ALA-246; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3); VARIANTS MET-72; VAL-93 AND ALA-246;

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.