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UniProtKB/Swiss-Prot O43272: Variant p.Asp426Asn

Proline dehydrogenase 1, mitochondrial
Gene: PRODH
Variant information

Variant position:  426
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 Aspartate (D) to Asparagine (N) at position 426 (D426N, p.Asp426Asn).
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 acidic (D) to medium size and polar (N)
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:  Hyperprolinemia 1 (HYRPRO1) [MIM:239500]: An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and mental retardation. Association with certain forms of schizophrenia have been reported. {ECO:0000269|PubMed:12217952, ECO:0000269|PubMed:15662599, ECO:0000269|PubMed:17135275}. 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 HYRPRO1; moderate reduction of enzymatic activity.
Any additional useful information about the variant.



Sequence information

Variant position:  426
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:   PLIFNTYQCYLKDAYDNVTL  D VELARREGWCFGAKLVRGAY
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                         PLIFNTYQCYLKDAYDNVTLDVELARREGWCF--GAKLVRGAY

Mouse                         PFIFNTFQCYLKDAYDNVTLDMELARREGWCF--GAKLVRG

Bovine                        PLIFNTFQCYLRDAYDNVILDVELARREGWCF--GAKLVRG

Caenorhabditis elegans        GNIFNTYQAYLKGTLQNMEADMQVARREGWHF--GAKLVRG

Drosophila                    AIVFNTYQCYLRETFREVNTDLEQAKRQNFYF--GAKLVRG

Slime mold                    PIIYNTYQMYLVNGMNVLKQHFELSSSQKFNFKLGAKIVRG

Fission yeast                 AIVHNTYQLYLKKSRKIMDDHIKKCVAEGWLM--GAKLVRG



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.