UniProtKB/SwissProt variant VAR

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 implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

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. {ECO:0000269|PubMed:18805827}. 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.

Other resources:

Links to websites of interest for the variant.

Variant rs121434481 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15428: Variant p.Ser193Pro