UniProtKB/SwissProt variant VAR

Variant information

Variant position:

93

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 Threonine (T) to Methionine (M) at position 93 (T93M, p.Thr93Met).

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 (M)

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

Variant description:

In SLOS.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs80338853 [ dbSNP | Ensembl ]

Sequence information

Variant position:

93

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

Protein sequence length:

475

The length of the canonical sequence.

Location on the sequence:

VDIVTGHARLSDIWAKTPPI T RKAAQLYTLWVTFQVLLYTS

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                         VDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTS

Mouse                         LDIATGHASLADIWAKTPPVTAKAAQLYALWVSFQVLLYSW

Rat                           LDVATGRASLADIWAKTPPVTAKAAQLYALWVSFQVLLYSW

Bovine                        ADLATGRARLADIWARTPPVTAKAAQIYTAWVTLQVLLYML

Xenopus laevis                LDLYSGKARLSDIWDKTPALTWTAVKIYLAWVSFQVFLYMF

Xenopus tropicalis            LDLYWGKAQLSDIWDKTPALTWGAAKIYIVWVSFQVFLYML

Zebrafish                     LDLYNGDATLFTIWNRAPSFTWAAAKIYAIWVTFQVVLYMC

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	1 – 475	7-dehydrocholesterol reductase

Literature citations

Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
Fitzky B.U.; Witsch-Baumgartner M.; Erdel M.; Lee J.N.; Paik Y.-K.; Glossmann H.; Utermann G.; Moebius F.F.;
Proc. Natl. Acad. Sci. U.S.A. 95:8181-8186(1998)
Cited for: VARIANTS SLOS SER-51; MET-93; PRO-99; PRO-157; VAL-247; LEU-326; TRP-352; SER-380; CYS-404 AND SER-410;

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
Witsch-Baumgartner M.; Fitzky B.U.; Ogorelkova M.; Kraft H.G.; Moebius F.F.; Glossmann H.; Seedorf U.; Gillessen-Kaesbach G.; Hoffmann G.F.; Clayton P.; Kelley R.I.; Utermann G.;
Am. J. Hum. Genet. 66:402-412(2000)
Cited for: VARIANTS SLOS SER-51; MET-93; PRO-99; HIS-107; PRO-109; ASP-147; MET-154; PRO-157; LEU-169; CYS-182; CYS-242; VAL-247; MET-281; ILE-289; GLY-311; TYR-311; HIS-324; LEU-326; GLN-352; TRP-352; ALA-353; CYS-362; TYR-380; ARG-380; SER-380; LEU-397; CYS-404; SER-404; HIS-408; SER-410; ARG-410; CYS-443; GLN-446; GLN-448; LYS-448 AND LEU-450;

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome.
Jira P.E.; Wanders R.J.A.; Smeitink J.A.M.; De Jong J.; Wevers R.A.; Oostheim W.; Tuerlings J.H.A.M.; Hennekam R.C.M.; Sengers R.C.A.; Waterham H.R.;
Ann. Hum. Genet. 65:229-236(2001)
Cited for: VARIANTS SLOS MET-93; PRO-109; LEU-119; MET-154; LEU-182; TYR-183; GLU-198; HIS-242; ARG-244; CYS-248 AND LEU-255;

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
Witsch-Baumgartner M.; Ciara E.; Loffler J.; Menzel H.J.; Seedorf U.; Burn J.; Gillessen-Kaesbach G.; Hoffmann G.F.; Fitzky B.U.; Mundy H.; Clayton P.; Kelley R.I.; Krajewska-Walasek M.; Utermann G.;
Eur. J. Hum. Genet. 9:45-50(2001)
Cited for: VARIANTS SLOS MET-93; LEU-326; TRP-352 AND CYS-404;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBM7: Variant p.Thr93Met