UniProtKB/Swiss-Prot Q9BTZ2: Variant p.Pro202Ser

Dehydrogenase/reductase SDR family member 4
Gene: DHRS4
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Variant information Variant position:

202 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 Proline (P) to Serine (S) at position 202 (P202S, p.Pro202Ser). 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 hydrophobic (P) to small size and polar (S) 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 rs1043650 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YNVSKTALLGLTKTLAIELA P RNIRVNCLAPGLIKTSFSRM 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                         YNVSKTALLGLTKTLAIELAPRNIRVNCLAPGLIKTSFSRM

Mouse                         YNVSKTALLGLTKNFAAELAPKNIRVNCLAPGLIKTRFSSV

Rat                           YNVSKTALLGLTKNFAAELAPKNIRVNCLAPGLIKTHFSSV

Pig                           YNVSKTALLGLTKNLAVELAPRNIRVNCLAPGLIKTNFSQV

Bovine                        YNVSKTALLGLTKNLALELAESNVRVNCLAPGLIRTSFSRV

Caenorhabditis elegans        YGVTKTTLVGLTRALAMGLAKDNIRVNGIAPGVIKTKMSQV

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 – 278	Dehydrogenase/reductase SDR family member 4
Active site	182 – 182	Proton acceptor
Binding site	186 – 186
Modified residue	216 – 216	N6-acetyllysine; alternate
Modified residue	216 – 216	N6-succinyllysine; alternate
Modified residue	220 – 220	Phosphoserine
Alternative sequence	19 – 221	Missing. In isoform 6.
Alternative sequence	103 – 222	Missing. In isoform 3.
Alternative sequence	137 – 222	Missing. In isoform 2.
Alternative sequence	178 – 222	Missing. In isoform 5.
Alternative sequence	189 – 278	Missing. In isoform 7.
Mutagenesis	195 – 195	T -> N. Loss of cold catalytic inactivation. Loss of cold catalytic inactivation; when associated with F-176 and L-179. Switch in stereoselective activity from 3beta-hydroxysteroid to 3alpha-hydroxysteroid oxidation; when associated with F-176 and L-179. Increased reduction activity for renital and oxidation activity for retinol; when associated with F-176 and L-179.
Helix	201 – 203

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.