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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P18074: Variant p.Gly713Arg

General transcription and DNA repair factor IIH helicase subunit XPD
Gene: ERCC2
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Variant information Variant position: help 713
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 713 (G713R, p.Gly713Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In TTD1.
Other resources: help


Sequence information Variant position: help 713
Protein sequence length: help 760
Location on the sequence: help LPRWIQEHLTDANLNLTVDE G VQVAKYFLRQMAQPFHREDQ
Residue conservation: help 
Human                         LPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQ

Mouse                         LPRWIQEHLTDSNLNLTVDEGVQVAKYFLRQMAQPFHREDQ

Bovine                        LPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQ

Slime mold                    LPQWILQFCQPQHLNLSTDMAISLSKTFLREMGQPFSREEQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 760 General transcription and DNA repair factor IIH helicase subunit XPD
Alternative sequence 430 – 760 Missing. In isoform 2.
Helix 710 – 724



Literature citations
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Takayama K.; Salazar E.P.; Broughton B.C.; Lehmann A.R.; Sarasin A.; Thompson L.H.; Weber C.A.;
Am. J. Hum. Genet. 58:263-270(1996)
Cited for: VARIANTS TTD1 CYS-658 AND ARG-713; A temperature-sensitive disorder in basal transcription and DNA repair in humans.
Vermeulen W.; Rademakers S.; Jaspers N.G.J.; Appeldoorn E.; Raams A.; Klein B.; Kleijer W.J.; Hansen L.K.; Hoeijmakers J.H.J.;
Nat. Genet. 27:299-303(2001)
Cited for: VARIANTS TTD1 CYS-658 AND ARG-713;
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.