UniProtKB/Swiss-Prot Q9NRD9: Variant p.Leu1178Phe

Dual oxidase 1
Gene: DUOX1
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Variant information Variant position:

1178 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 Leucine (L) to Phenylalanine (F) at position 1178 (L1178F, p.Leu1178Phe). 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 medium size and hydrophobic (L) to large size and aromatic (F) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2458236 [ dbSNP | Ensembl ]

Sequence information Variant position:

1178 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1551 The length of the canonical sequence.
Location on the sequence:

SPLSVLSCLFPGLFHDDGSE L PQKYYWWFFQTVPGLTGVVL 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                         SPLSVLSCLFPGLFHDDGSELPQKYYWWFFQTVPGLTGVVL

                              SPLSVLSCLFPGLFHNDGSEFPQKYYWWFFQTVPGLTGVML

Rat                           SPLSVLSCLFPDLFHDDGSEFPQKYYWWFFQTVPGLTGVLL

Pig                           SPLSVLSCLFPGLFHDNGSEFPQKYYWWFFQTVPGLTGVML

Caenorhabditis elegans        QSQEGLACLFQEAFF--GSNFLPSISYWFFSTITGLTGIAL

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	22 – 1551	Dual oxidase 1
Topological domain	1172 – 1188	Extracellular
Domain	1087 – 1269	Ferric oxidoreductase
Region	956 – 1248	Interaction with TXNDC11

Literature citations
Tyrosine cross-linking of extracellular matrix is catalyzed by Duox, a multidomain oxidase/peroxidase with homology to the phagocyte oxidase subunit gp91phox.
Edens W.A.; Sharling L.; Cheng G.; Shapira R.; Kinkade J.M.; Lee T.; Edens H.A.; Tang X.; Sullards C.; Flaherty D.B.; Benian G.M.; Lambeth J.D.;
J. Cell Biol. 154:879-891(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PHE-1178; FUNCTION; CATALYTIC ACTIVITY; ACTIVITY REGULATION; DEVELOPMENTAL STAGE; TISSUE SPECIFICITY;

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.