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UniProtKB/Swiss-Prot Q9UHB4: Variant p.Val522Ile

NADPH-dependent diflavin oxidoreductase 1
Gene: NDOR1
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Variant information Variant position: help 522
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 522 (V522I, p.Val522Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Variant description: help In allele NDOR1*1; shows a decrease in affinity for NADPH and a reduction in ferricyanide reductase activity.
Other resources: help


Sequence information Variant position: help 522
Protein sequence length: help 597
Location on the sequence: help LEKRDCLTLIPAFSREQEQK V YVQHRLRELGSLVWELLDRQ
Residue conservation: help 
Human                         LEKRDCLT-LIPAFSREQEQ--KV-YVQHRLRELGSLVWELLDRQ

Mouse                         LEQKGWLT-LVTAFSREQEQ--KV-YVQHRLRELGPLVWEL

Bovine                        LQARGCLT-LVTAFSREQEQ--KV-YVQHRLRALGPLVWEL

Xenopus laevis                LGNRGYLT-LFTAFSRDQED--KI-YVQHRIKENSKLLWDL

Zebrafish                     KVQAGQMI-LVTAFSRDQED--KV-YVQHRVKEQGKLLWDL

Slime mold                    NLEKGIISKLSVAFSRDGKDGKKV-YVQQYIENDSDLIWDI

Baker's yeast                 WFRKGKIA-LHSSFSRDEENSPGVKYVQDYLWRLGEEITNL

Fission yeast                 YTEEGTLK-LFCAFSRDQEK--KK-YVQHSIQENGELVYNL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 597 NADPH-dependent diflavin oxidoreductase 1
Binding site 521 – 525
Alternative sequence 518 – 518 Q -> QPPALFSALQ. In isoform 2.



Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ILE-522; Identification of a functionally impaired allele of human novel oxidoreductase 1 (NDOR1), NDOR1*1.
Finn R.D.; Wilkie M.; Smith G.; Paine M.J.;
Pharmacogenet. Genomics 15:381-386(2005)
Cited for: VARIANT ILE-522; CHARACTERIZATION OF VARIANT ILE-522; FUNCTION; BIOPHYSICOCHEMICAL PROPERTIES;
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.