UniProtKB/SwissProt variant VAR

Variant information

Variant position:

211

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Tryptophan (W) to Arginine (R) at position 211 (W211R, p.Trp211Arg).

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 large size and aromatic (W) to large size and basic (R)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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

Variant description:

In NPDA; results in less than 0.5% of wild-type activity.

Any additional useful information about the variant.

Sequence information

Variant position:

211

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:

PSPPAPGAPVSRILFLTDLH W DHDYLEGTDPDCADPLCCRR

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                         PSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRR

Mouse                         PSPPAPGAPVSRVLFLTDLHWDHEYLEGTDPYCADPLCCRR

Bovine                        PKPPAPGSPVSRVLFLTDLHWDHDYLEGTDPNCENPLCCRR

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
Metal binding	208 – 208	Zinc 1
Metal binding	210 – 210	Zinc 1; via tele nitrogen

Literature citations

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.
Desnick J.P.; Kim J.; He X.; Wasserstein M.P.; Simonaro C.M.; Schuchman E.H.;
Mol. Med. 16:316-321(2010)
Cited for: VARIANTS NPDA ARG-211 AND HIS-253; VARIANTS NPDB MET-314; ARG-427 AND HIS-525; CHARACTERIZATION OF VARIANTS NPDA ARG-211 AND HIS-253; CHARACTERIZATION OF VARIANTS NPDB MET-314; ARG-427 AND HIS-525;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17405: Variant p.Trp211Arg