UniProtKB/Swiss-Prot Q53TN4: Variant p.Arg226His

Plasma membrane ascorbate-dependent reductase CYBRD1
Gene: CYBRD1
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Variant information Variant position:

226 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 Histidine (H) at position 226 (R226H, p.Arg226His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Polymorphism:

Genetic variations in CYBRD1 may act as modifier of iron overload expression and account for the variance observed in serum ferritin levels in patients with hereditary hemochromatosis. Additional information on the polymorphism described.
Variant description:

In some patients with hereditary hemochromatosis. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs62181680 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LLILVFGALIFWIVTRPQWK R PKEPNSTILHPNGGTEQGAR 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                         LLILVFGALIFWIVTRPQWKRPKEPNSTILHPNGGTEQG-AR

Mouse                         LLILVFGALIFWIVTRPQWKRPREPGSVPLQLNGGNAECRM

Rat                           LLILVFGALIFWIVTRPQWKRPREPGSIPLQLNGGNADG-M

Xenopus laevis                LLILVFGGLVVWMVTTPAWKRPREQGMEILSPTVSSPDETE

Xenopus tropicalis            LIILVFGGLVVWMVTTPAWKRPREQEIKALNPTVSSPDGTE

Zebrafish                     LLIAAFGALVVWIATRSAWKRPREETAQTLSNNTTSPEEIK

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	1 – 286	Plasma membrane ascorbate-dependent reductase CYBRD1
Topological domain	223 – 286	Cytoplasmic
Binding site	225 – 225
Modified residue	232 – 232	Phosphoserine
Alternative sequence	66 – 286	IIVYRLPWTWKCSKLLMKSIHAGLNAVAAILAIISVVAVFENHNVNNIANMYSLHSWVGLIAVICYLLQLLSGFSVFLLPWAPLSLRAFLMPIHVYSGIVIFGTVIATALMGLTEKLIFSLRDPAYSTFPPEGVFVNTLGLLILVFGALIFWIVTRPQWKRPKEPNSTILHPNGGTEQGARGSMPAYSGNNMDKSDSELNSEVAARKRNLALDEAGQRSTM -> SFRFFSLSASMGSAFSPSISHAHTCLFWNCHLWNSDCNSTYGIDRETDFFPERSCIQYIPARRCFRKYAWPSDPGVRGPHFLDSHQTAMETS. In isoform 2.

Literature citations
Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.
Zaahl M.G.; Merryweather-Clarke A.T.; Kotze M.J.; van der Merwe S.; Warnich L.; Robson K.J.H.;
Hum. Genet. 115:409-417(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 65-134 AND 187-285; VARIANT HIS-226; Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload.
Zaahl M.G.; Merryweather-Clarke A.T.; Kotze M.J.; van der Merwe S.; Warnich L.; Robson K.J.;
Hum. Genet. 118:546-546(2005)
Cited for: VARIANT HIS-226;

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.