UniProtKB/Swiss-Prot P22570: Variant p.Arg301Cys

NADPH:adrenodoxin oxidoreductase, mitochondrial
Gene: FDXR
Feedback?

Variant information Variant position:

301 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 Arginine (R) to Cysteine (C) at position 301 (R301C, p.Arg301Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 rs34118765 [ dbSNP | Ensembl ]

Sequence information Variant position:

301 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

491 The length of the canonical sequence.
Location on the sequence:

LRTATEKPGPAEAARQASAS R AWGLRFFRSPQQVLPSPDGR 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                         LRTA------TEKPGPAEAARQASASRAWGLRFFRSPQQVL-------PSPDGR

Mouse                         LRTA------TEKPGVEEAARQALASRAWGLRFFRSPQQVL

Rat                           LRTA------TEKPGVEEAARRALASRAWGLRFFRSPQQVL

Bovine                        LRTA------TEKPGVEEAARRASASRAWGLRFFRSPQQVL

Drosophila                    LKSL------------KEQGRISGSKQFLPI-FLRAPKAIA

Slime mold                    KQHL--------KPFDQEIANNGNMNLIFH--FLRSPVELL

Baker's yeast                 SEYLKPFNERSKKNYKKAPPPSSGYDKFWELDYLKTPLKI-

Fission yeast                 VSEI------QKAVSEKRVAPYSKDKKCWNLEFGLTPVEIL

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	33 – 491	NADPH:adrenodoxin oxidoreductase, mitochondrial
Modified residue	310 – 310	Phosphoserine
Modified residue	317 – 317	Phosphoserine

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-7; GLN-123; VAL-213; LEU-248; TRP-251; CYS-301; MET-345; SER-352 AND ALA-472;

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.