UniProtKB/Swiss-Prot P15428: Variant p.Ser193Pro

15-hydroxyprostaglandin dehydrogenase [NAD(+)]
Gene: HPGD
Chromosomal location: 4q34-q35
Variant information

Variant position:  193
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Serine (S) to Proline (P) at position 193 (S193P, p.Ser193Pro).
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 small size and polar (S) to medium size and hydrophobic (P)
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

Involvement in disease:  Isolated congenital nail clubbing (ICNC) [MIM:119900]: A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In ICNC.
Any additional useful information about the variant.



Sequence information

Variant position:  193
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  266
The length of the canonical sequence.

Location on the sequence:   NSGVRLNAICPGFVNTAILE  S IEKEENMGQYIEYKDHIKDM
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                         NSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDM

Mouse                         KSGVRLNVICPGFVDTPILESIEKEENMGQYIEYKDQIKAM

Rat                           KSGVRLNVICPGFVKTPILESIEKEENMGQYIEYTDQIKAM

Bovine                        NSGVRLNAICPGFVDTPILKSIEKEENMGKYIEYMGPIKDM

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 1 – 266 15-hydroxyprostaglandin dehydrogenase [NAD(+)]
Alternative sequence 144 – 266 Missing. In isoform 4.
Alternative sequence 167 – 266 LAANLMNSGVRLNAICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNGAIMKITTSKGIHFQDYDTTPFQAKTQ -> PTIDCQWIDNTH. In isoform 2.
Helix 193 – 195


Literature citations

Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC).
Tariq M.; Azeem Z.; Ali G.; Chishti M.S.; Ahmad W.;
J. Med. Genet. 46:14-20(2009)
Cited for: VARIANT ICNC PRO-193;

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.