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UniProtKB/Swiss-Prot P53602: Variant p.Phe249Ser

Diphosphomevalonate decarboxylase
Gene: MVD
Chromosomal location: 16q24.2
Variant information

Variant position:  249
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 Phenylalanine (F) to Serine (S) at position 249 (F249S, p.Phe249Ser).
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 large size and aromatic (F) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Porokeratosis 7, multiple types (POROK7) [MIM:614714]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269|PubMed:18823933, ECO:0000269|PubMed:26202976}. 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 POROK7.
Any additional useful information about the variant.

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



Sequence information

Variant position:  249
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  400
The length of the canonical sequence.

Location on the sequence:   AESVVPARMAEMARCIRERD  F PSFAQLTMKDSNQFHATCLD
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                         AESVVPARMAEMARCIRERDFPSFAQLTMKDSNQFHATCLD

Mouse                         AESVVPERMKEMTRCIQEQDFQGFAQLTMKDSNQFHATCLD

Rat                           AESIVPERMKEMTRCIQEQDFQAFAQLTMKDSNQFHATCLD

Bovine                        AEALVPPRMAEMTRCIRERNFQAFGQLTMKDSNQFHATCLD

Zebrafish                     ADAVVPGRMEEMIRAIRLRDFPKFGELTMKDSNQFHAICLD

Slime mold                    CAVTVPNRMRDIEEAINKKDFQTFGDITMKDSDDFHEVCAT

Baker's yeast                 IEHVVPKRFEVMRKAIVEKDFATFAKETMMDSNSFHATCLD

Fission yeast                 IQNIVPQRIQEMKTAIRERDFETFAKLTMTDSNQFHACCLD

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 – 400 Diphosphomevalonate decarboxylase
Helix 249 – 268


Literature citations

Genomic variations of the mevalonate pathway in porokeratosis.
Zhang Z.; Li C.; Wu F.; Ma R.; Luan J.; Yang F.; Liu W.; Wang L.; Zhang S.; Liu Y.; Gu J.; Hua W.; Fan M.; Peng H.; Meng X.; Song N.; Bi X.; Gu C.; Zhang Z.; Huang Q.; Chen L.; Xiang L.; Xu J.; Zheng Z.; Jiang Z.;
Elife 4:E06322-E06322(2015)
Cited for: INVOLVEMENT IN POROK7; VARIANTS POROK7 ARG-101; VAL-128; GLN-161; LEU-161; GLN-228; TRP-228; SER-249; SER-292; ILE-371 DEL AND ARG-376;

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.