UniProtKB/Swiss-Prot O43272: Variant p.Gly444Asp

Proline dehydrogenase 1, mitochondrial
Gene: PRODH
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Variant information Variant position:

444 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Glycine (G) to Aspartate (D) at position 444 (G444D, p.Gly444Asp). 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 glycine (G) to medium size and acidic (D) 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
Other resources:

Links to websites of interest for the variant.

Variant rs765090516 [ dbSNP | Ensembl ]

Sequence information Variant position:

444 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:

TLDVELARREGWCFGAKLVR G AYLAQERARAAEIGYEDPIN 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                         TLDVELARREGWCF--GAKLVRGAYLAQE-------RARAAEIGYEDPIN

Mouse                         TLDMELARREGWCF--GAKLVRGAYMAQE-------RVRAA

Bovine                        ILDVELARREGWCF--GAKLVRGAYMAQ-------------

Caenorhabditis elegans        EADMQVARREGWHF--GAKLVRGAYMEQE-------RARAK

Drosophila                    NTDLEQAKRQNFYF--GAKLVRGAYMDQE-------RDRAK

Slime mold                    KQHFELSSSQKFNFKLGAKIVRGAYMVTE-------SERSQ

Fission yeast                 DDHIKKCVAEGWLM--GAKLVRGAYLNSEPRFLIHDTKAET

Literature citations
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Raux G.; Bumsel E.; Hecketsweiler B.; van Amelsvoort T.; Zinkstok J.; Manouvrier-Hanu S.; Fantini C.; Breviere G.-M.M.; Di Rosa G.; Pustorino G.; Vogels A.; Swillen A.; Legallic S.; Bou J.; Opolczynski G.; Drouin-Garraud V.; Lemarchand M.; Philip N.; Gerard-Desplanches A.; Carlier M.; Philippe A.; Nolen M.C.; Heron D.; Sarda P.; Lacombe D.; Coizet C.; Alembik Y.; Layet V.; Afenjar A.; Hannequin D.; Demily C.; Petit M.; Thibaut F.; Frebourg T.; Campion D.;
Hum. Mol. Genet. 16:83-91(2007)
Cited for: VARIANTS ASN-275 AND ASP-444; VARIANT HYRPRO1 HIS-431;

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.