UniProtKB/SwissProt variant VAR

NAD(P)H dehydrogenase [quinone] 1
Gene: NQO1
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Variant information Variant position:

139
Type of variant:

LB/B
Residue change:

From Arginine (R) to Tryptophan (W) at position 139 (R139W, p.Arg139Trp).
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score:

-3
Polymorphism:

The Ser-187 polymorphism may be linked to susceptibility to forms of cancers.
Other resources:

Variant rs1131341 [ dbSNP | Ensembl ]

Sequence information Variant position:

139
Protein sequence length:

274
Location on the sequence:

RVFIGEFAYTYAAMYDKGPF R SKKAVLSITTGGSGSMYSLQ
Residue conservation:

Human                         RVFIGEFAYTYAAMYDKGPFRSKKAVLSITTGGSGSMYSLQ

Mouse                         RVLVAGFAYTYAAMYDNGPFQNKKTLLSITTGGSGSMYSLQ

Rat                           RVLVAGFAYTYATMYDKGPFQNKKTLLSITTGGSGSMYSLQ

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 274	NAD(P)H dehydrogenase [quinone] 1
Binding site	156 – 156
Alternative sequence	102 – 139	Missing. In isoform 3.
Mutagenesis	129 – 129	Y -> FV. Abolishes the interaction with TP73.
Turn	137 – 140

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15559: Variant p.Arg139Trp