UniProtKB/SwissProt variant VAR

Double-stranded RNA-specific adenosine deaminase
Gene: ADAR
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Variant information Variant position:

1155
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Tryptophan (W) at position 1155 (R1155W, p.Arg1155Trp).
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score:

-3
Variant description:

In DSH.
Other resources:

Variant rs1044845711 [ dbSNP | Ensembl ]

Sequence information Variant position:

1155
Protein sequence length:

1226
Location on the sequence:

DLEILDGTRGTVDGPRNELS R VSKKNIFLLFKKLCSFRYRR
Residue conservation:

Human                         DLEILDGTRGTV---DGPRNEL---SRVSKKNIFLLFKKLCSFRYRR

Mouse                         DLEILDGTRGTV---DGPGKEL---SRVSKKNIFLQFKKLC

Rat                           DLEILDGTRGTV---DGPGKEL---SRVSKKNIFLQFKKLC

Caenorhabditis elegans        NTEVVRTSDGMVHDKDMSGADITTPSRLCKKNMAELMITIC

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1226	Double-stranded RNA-specific adenosine deaminase
Domain	886 – 1221	A to I editase

Literature citations
A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.
Li C.-R.; Li M.; Ma H.-J.; Luo D.; Yang L.-J.; Wang D.-G.; Zhu X.-H.; Yue X.-Z.; Chen W.-Q.; Zhu W.-Y.;
J. Dermatol. Sci. 37:95-99(2005)
Cited for: VARIANT DSH TRP-1155;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P55265: Variant p.Arg1155Trp