UniProtKB/Swiss-Prot P17405: Variant p.Thr324Ile

Sphingomyelin phosphodiesterase
Gene: SMPD1
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Variant information Variant position:

324 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 Threonine (T) to Isoleucine (I) at position 324 (T324I, p.Thr324Ile). 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:

Change from medium size and polar (T) to medium size and hydrophobic (I) 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
Polymorphism:

A common polymorphism arises from a variable number of hexanucleotide repeat sequence within the signal peptide region. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1050233 [ dbSNP | Ensembl ]

Sequence information Variant position:

324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

631 The length of the canonical sequence.
Location on the sequence:

LVRKFLGPVPVYPAVGNHES T PVNSFPPPFIEGNHSSRWLY 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                         LVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLY

Mouse                         LVRKFLGPVPVYPAVGNHESTPVNGFPPPFIKGNQSSQWLY

Bovine                        LVKKFLGPVPVYPAVGNHESTPVNGFPPPFIKGNQSSHWLY

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	47 – 631	Sphingomyelin phosphodiesterase
Chain	254 – 631	Sphingomyelin phosphodiesterase, processed form
Binding site	320 – 320
Glycosylation	337 – 337	N-linked (GlcNAc...) asparagine
Mutagenesis	337 – 337	N -> G. No effect on sphingomyelin phosphodiesterase activity. No effect on secretion.
Beta strand	322 – 325

Literature citations
Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.
Schuchman E.H.; Suchi M.; Takahashi T.; Sandhoff K.; Desnick R.J.;
J. Biol. Chem. 266:8531-8539(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; CATALYTIC ACTIVITY; ALTERNATIVE SPLICING; VARIANTS 48-ALA-LEU-49 DEL; ILE-324 AND ARG-508; Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.
Quintern L.E.; Schuchman E.H.; Levran O.; Suchi M.; Ferlinz K.; Reinke H.; Sandhoff K.; Desnick R.J.;
EMBO J. 8:2469-2473(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 130-631; PARTIAL PROTEIN SEQUENCE; ALTERNATIVE SPLICING; VARIANTS ILE-324 AND ARG-508;

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.