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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43272: Variant p.Val427Met

Proline dehydrogenase 1, mitochondrial
Gene: PRODH
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Variant information Variant position: help 427 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Valine (V) to Methionine (M) at position 427 (V427M, p.Val427Met). 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: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In HYRPRO1; benign; moderate reduction of enzymatic activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 427 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 600 The length of the canonical sequence.
Location on the sequence: help LIFNTYQCYLKDAYDNVTLD V ELARREGWCFGAKLVRGAYL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LIFNTYQCYLKDAYDNVTLDVELARREGWCF--GAKLVRGAYL

Mouse                         FIFNTFQCYLKDAYDNVTLDMELARREGWCF--GAKLVRGA

Bovine                        LIFNTFQCYLRDAYDNVILDVELARREGWCF--GAKLVRGA

Caenorhabditis elegans        NIFNTYQAYLKGTLQNMEADMQVARREGWHF--GAKLVRGA

Drosophila                    IVFNTYQCYLRETFREVNTDLEQAKRQNFYF--GAKLVRGA

Slime mold                    IIYNTYQMYLVNGMNVLKQHFELSSSQKFNFKLGAKIVRGA

Fission yeast                 IVHNTYQLYLKKSRKIMDDHIKKCVAEGWLM--GAKLVRGA


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); FUNCTION; 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; C; CHARACTERIZATION OF VARIANTS VAL-167; TRP-185; GLN-185; LEU-406; MET-466 AND GLU-521; Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.
Liu H.; Heath S.C.; Sobin C.; Roos J.L.; Galke B.L.; Blundell M.L.; Lenane M.; Robertson B.; Wijsman E.M.; Rapoport J.L.; Gogos J.A.; Karayiorgou M.;
Proc. Natl. Acad. Sci. U.S.A. 99:3717-3722(2002)
Cited for: VARIANTS LEU-406; MET-427; PRO-441; CYS-453; MET-466; THR-472 AND ARG-521; INVOLVEMENT IN SCZD4;
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.