UniProtKB/SwissProt variant VAR

Dual oxidase maturation factor 2
Gene: DUOXA2
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Variant information Variant position:

100
Type of variant:

LB/B
Residue change:

From Arginine (R) to Glycine (G) at position 100 (R100G, p.Arg100Gly).
Physico-chemical properties:

Change from large size and basic (R) to glycine (G)
BLOSUM score:

-2
Other resources:

Variant rs2576090 [ dbSNP | Ensembl ]

Sequence information Variant position:

100
Protein sequence length:

320
Location on the sequence:

TVNTNTSYKAFSAARVTARV R LLVGLEGINITLTGTPVHQL
Residue conservation:

Human                         TVNTNTSYKAFSAARVTARVRLLVGLEGINITLTGTPVHQL

Mouse                         RVWTNTSYKAFSPSRVQVHVGLHVGLAGVNITLRGTPRQQL

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 320	Dual oxidase maturation factor 2
Topological domain	78 – 183	Extracellular
Glycosylation	84 – 84	N-linked (GlcNAc...) asparagine
Glycosylation	109 – 109	N-linked (GlcNAc...) asparagine
Alternative sequence	50 – 121	RWFWLVRVLLSLFIGAEIVAVHFSAEWFVGTVNTNTSYKAFSAARVTARVRLLVGLEGINITLTGTPVHQLN -> EYLHSHLLPSEIRLGPPSSEGGDPCVPSTSGLTEPHQAVTGPGGRTRTRRQTARGVKVVEECQEVGVEGRCC. In isoform 2.

Literature citations
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.
Grasberger H.; Refetoff S.;
J. Biol. Chem. 281:18269-18272(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; GLYCOSYLATION; VARIANT GLY-100;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q1HG44: Variant p.Arg100Gly