UniProtKB/Swiss-Prot Q7Z5P4: Variant p.Pro260Ser

17-beta-hydroxysteroid dehydrogenase 13
Gene: HSD17B13
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Variant information Variant position:

260 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 260 (P260S, p.Pro260Ser). 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
Polymorphism:

The insertion of an adenine adjacent to the donor splice site of exon 6 (dbSNP:rs72613567) is associated with reduced risk of non-alcoholic fatty liver disease and protection from chronic liver disease [MIM:620116]. It is also associated with reduced risk of hepatocellular carcinoma (PubMed:29562163, PubMed:34930143). Variant rs72613567 alters mRNA splicing and results in the synthesis of a truncated, unstable protein. Liver samples from variant carriers contain reduced levels of isoform 1 and isoform 2 transcripts (PubMed:29562163). Additional information on the polymorphism described.
Variant description:

Loss of retinol/retinal dehydrogenase activity; does not affect localization to lipid droplets. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs62305723 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DEVVRSLIDGILTNKKMIFV P SYINIFLRLQKFLPERASAI 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                         DEVVRSLIDGILTNKKMIFVPSYINIFLRLQK---FLPERASAI

Mouse                         EEVARSLINGILTNKKMIFVPSYINISLILEKGPGFSSKHP

Rat                           DEVARSLIDGILTNKKMIFVPSYINISLIVEM---FFPERV

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	20 – 300	17-beta-hydroxysteroid dehydrogenase 13
Beta strand	255 – 260

Literature citations
Molecular cloning and expression of a novel and tissue specific 17-beta hydroxysteroid dehydrogenase.
Zhong H.; Wang R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANT SER-260; 17-Beta hydroxysteroid dehydrogenase 13 is a hepatic retinol dehydrogenase associated with histological features of nonalcoholic fatty liver disease.
Ma Y.; Belyaeva O.V.; Brown P.M.; Fujita K.; Valles K.; Karki S.; de Boer Y.S.; Koh C.; Chen Y.; Du X.; Handelman S.K.; Chen V.; Speliotes E.K.; Nestlerode C.; Thomas E.; Kleiner D.E.; Zmuda J.M.; Sanyal A.J.; Kedishvili N.Y.; Liang T.J.; Rotman Y.;
Hepatology 69:1504-1519(2019)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY; MUTAGENESIS OF 22-LEU--PRO-28 AND 47-GLY--GLY-49; CHARACTERIZATION OF VARIANT SER-260;

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.