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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q1HG44: Variant p.Arg100Gly

Dual oxidase maturation factor 2
Gene: DUOXA2
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Variant information Variant position: help 100
Type of variant: help LB/B
Residue change: help From Arginine (R) to Glycine (G) at position 100 (R100G, p.Arg100Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 100
Protein sequence length: help 320
Location on the sequence: help TVNTNTSYKAFSAARVTARV R LLVGLEGINITLTGTPVHQL
Residue conservation: help
Human                         TVNTNTSYKAFSAARVTARVRLLVGLEGINITLTGTPVHQL

Mouse                         RVWTNTSYKAFSPSRVQVHVGLHVGLAGVNITLRGTPRQQL

Sequence annotation in neighborhood: help
TypePositionsDescription
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;
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.