Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15918: Variant p.Arg778Gln

V(D)J recombination-activating protein 1
Gene: RAG1
Feedback?
Variant information Variant position: help 778
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 778 (R778Q, p.Arg778Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In CHIDG; reduced recombination activity.
Other resources: help


Sequence information Variant position: help 778
Protein sequence length: help 1043
Location on the sequence: help ERYEVWRSNPYHESVEELRD R VKGVSAKPFIETVPSIDALH
Residue conservation: help 
Human                         ERYEVWRSNPYHESVEELRDRVKGVSAKPFIETVPSIDALH

Mouse                         QRYEVWRSNPYHESVEELRDRVKGVSAKPFIETVPSIDALH

Pig                           ERYEVWRSNPYHETVDELRDRVKGVSAKPFIETVPSIDALH

Rabbit                        ERYEVWRSNPYHESVEELRDRVKGVSAKPFIETVPSIDALH

Chicken                       ERYEIWRSNPYHESVDELRDRVKGVSAKPFIETVPSIDALH

Xenopus laevis                QRYEMWRSNPHHESPDELRDRVKGVSAKPFIETLPSIDALH

Zebrafish                     ERYEIWRKNPFSESADELRDRVKGVSAKPFMETQPTLDALH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1043 V(D)J recombination-activating protein 1



Literature citations
An immunodeficiency disease with RAG mutations and granulomas.
Schuetz C.; Huck K.; Gudowius S.; Megahed M.; Feyen O.; Hubner B.; Schneider D.T.; Manfras B.; Pannicke U.; Willemze R.; Knuechel R.; Goebel U.; Schulz A.; Borkhardt A.; Friedrich W.; Schwarz K.; Niehues T.;
N. Engl. J. Med. 358:2030-2038(2008)
Cited for: VARIANTS CHIDG TRP-314; TRP-507; HIS-737; GLN-778 AND TRP-975; CHARACTERIZATION OF VARIANTS CHIDG TRP-314; TRP-507; HIS-737; GLN-778 AND TRP-975;
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.