UniProtKB/SwissProt variant VAR

Interferon regulatory factor 1
Gene: IRF1
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Variant information Variant position:

11
Type of variant:

LP/P [Disclaimer]
Residue change:

From Tryptophan (W) to Arginine (R) at position 11 (W11R, p.Trp11Arg).
Physico-chemical properties:

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

-3
Variant description:

In GASC; the mutation abolishes DNA binding and transactivating activities.
Other resources:

Variant rs121912470 [ dbSNP | Ensembl ]

Sequence information Variant position:

11
Protein sequence length:

325
Location on the sequence:

MPITRMRMRP W LEMQINSNQIPGLIWINKEE
Residue conservation:

Human                         MPITRMRMRPWLEMQINSNQIPGLIWINKEE

Mouse                         MPITRMRMRPWLEMQINSNQIPGLIWINKEE

Rat                           MPITRMRMRPWLEMQINSNQIPGLSWINKEE

Pig                           MPITRMRMRPWLEMQINSNQIPGLIWINKEE

Bovine                        MPITRMRMRPWLEMQINSNQIPGLIWINKEE

Chicken                       MPVSRMRMRPWLEMQINSNQIPGLIWINKDK

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 325	Interferon regulatory factor 1
DNA binding	5 – 113	IRF tryptophan pentad repeat

Literature citations
Interferon regulatory factor 1 tryptophan 11 to arginine point mutation abolishes DNA binding.
Eason D.D.; Shepherd A.T.; Blanck G.;
Biochim. Biophys. Acta 1446:140-144(1999)
Cited for: VARIANT GASC ARG-11;

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 P10914: Variant p.Trp11Arg