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UniProtKB/Swiss-Prot Q99714: Variant p.Asn247Ser

3-hydroxyacyl-CoA dehydrogenase type-2
Gene: HSD17B10
Variant information

Variant position:  247
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 Asparagine (N) to Serine (S) at position 247 (N247S, p.Asn247Ser).
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 (N) 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

Variant description:  In HSD10MD; strongly decreased 3-hydroxyacyl-CoA dehydrogenase activity; abolished mitochondrial tRNA 5'-end processing; abolished tRNA methylation; impaired homotetramerization.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  247
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  261
The length of the canonical sequence.

Location on the sequence:   LGDPAEYAHLVQAIIENPFL  N GEVIRLDGAIRMQP
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.

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.

TypePositionsDescription
Chain 2 – 261 3-hydroxyacyl-CoA dehydrogenase type-2


Literature citations

2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
Perez-Cerda C.; Garcia-Villoria J.; Ofman R.; Sala P.R.; Merinero B.; Ramos J.; Garcia-Silva M.T.; Beseler B.; Dalmau J.; Wanders R.J.A.; Ugarte M.; Ribes A.;
Pediatr. Res. 58:488-491(2005)
Cited for: VARIANTS HSD10MD CYS-130 AND SER-247; CHARACTERIZATION OF VARIANT HSD10MD SER-247;

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
Garcia-Villoria J.; Navarro-Sastre A.; Fons C.; Perez-Cerda C.; Baldellou A.; Fuentes-Castello M.A.; Gonzalez I.; Hernandez-Gonzalez A.; Fernandez C.; Campistol J.; Delpiccolo C.; Cortes N.; Messeguer A.; Briones P.; Ribes A.;
Clin. Biochem. 42:27-33(2009)
Cited for: VARIANTS HSD10MD CYS-130; SER-210; GLN-226 AND SER-247; FUNCTION; CATALYTIC ACTIVITY;

Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Vilardo E.; Rossmanith W.;
Nucleic Acids Res. 43:5112-5119(2015)
Cited for: VARIANTS HSD10MD CYS-130; SER-210; GLN-226 AND SER-247; FUNCTION; CATALYTIC ACTIVITY; SUBUNIT; MUTAGENESIS OF LYS-172; CHARACTERIZATION OF VARIANTS HSD10MD CYS-130; SER-210; GLN-226 AND SER-247;

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.