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UniProtKB/Swiss-Prot O43272: Variant p.Gln521Glu

Proline dehydrogenase 1, mitochondrial
Gene: PRODH
Variant information

Variant position:  521
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Glutamine (Q) to Glutamate (E) at position 521 (Q521E, p.Gln521Glu).
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 (Q) to medium size and acidic (E)
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

Variant description:  Strongly reduced enzymatic activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  521
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  600
The length of the canonical sequence.

Location on the sequence:   DTVRFALRRMEELGLHPADH  Q VYFGQLLGMCDQISFPLGQA
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                         DTVRFALRRMEELGLHPADHQVYFGQLLGMCDQISFPLG------QA

Mouse                         DTVHFTLCRMKEIGLHPADGQVCFGQLLGMCDQISFPLG--

Bovine                        DTVRFTLRRMEELGLHPADRQVYFGQLLGMCDHISFPLG--

Caenorhabditis elegans        DTVRFALNLMKEKCISPSERVMCMAQLYGMCDQVSFSLG--

Drosophila                    DTVRFAIQQMKEIGISPEDKVICFGQLLGMCDYITFPLG--

Slime mold                    DSINLGTKLIKQYKIDPTNPNIQFGQLFGMADFLSFNLV--

Fission yeast                 KTMFESVNLAETKKVDFTKTSFYLAQLLGMADDITYALAYS



Literature citations

Functional consequences of PRODH missense mutations.
Bender H.-U.; Almashanu S.; Steel G.; Hu C.-A.; Lin W.-W.; Willis A.; Pulver A.; Valle D.;
Am. J. Hum. Genet. 76:409-420(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); ENZYME ACTIVITY; COFACTOR; VARIANTS VAL-167 AND ARG-521; CHARACTERIZATION OF VARIANTS HYRPRO1 MET-289; ASN-426; MET-427; HIS-431; PRO-441; CYS-453; SER-455; THR-472 AND ARG-521; CHARACTERIZATION OF VARIANTS SCZD4 LEU-406 AND MET-466; CHARACTERIZATION OF VARIANTS VAL-167; TRP-185; GLN-185 AND GLU-521;

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.