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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14593: Variant p.Leu195Pro

DNA-binding protein RFXANK
Gene: RFXANK
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Variant information Variant position: help 195
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 195 (L195P, p.Leu195Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In MHC2D2; loss of expression.
Other resources: help


Sequence information Variant position: help 195
Protein sequence length: help 260
Location on the sequence: help LLLERDVDINIYDWNGGTPL L YAVRGNHVKCVEALLARGAD
Residue conservation: help 
Human                         LLLERDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGAD

Mouse                         LLLDRDVDINIYDWNGGTPLLYAVRGNHVKCVEALLARGAD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 260 DNA-binding protein RFXANK
Repeat 189 – 218 ANK 4
Helix 193 – 199



Literature citations
Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock.
Xu C.; Jin J.; Bian C.; Lam R.; Tian R.; Weist R.; You L.; Nie J.; Bochkarev A.; Tempel W.; Tan C.S.; Wasney G.A.; Vedadi M.; Gish G.D.; Arrowsmith C.H.; Pawson T.; Yang X.J.; Min J.;
Sci. Signal. 5:RA39-RA39(2012)
Cited for: X-RAY CRYSTALLOGRAPHY (1.57 ANGSTROMS) OF 90-260 IN COMPLEX WITH RFX5 PEPTIDE; CHARACTERIZATION OF VARIANT MHC2D2 PRO-195; MUTAGENESIS OF ASP-121 AND TYR-224; Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
Nagarajan U.M.; Peijnenburg A.; Gobin S.J.; Boss J.M.; van den Elsen P.J.;
J. Immunol. 164:3666-3674(2000)
Cited for: VARIANT MHC2D2 PRO-195; FUNCTION; INVOLVEMENT IN MHC2D2;
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.