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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q01831: Variant p.Arg314Gln

DNA repair protein complementing XP-C cells
Gene: XPC
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Variant information Variant position: help 314
Type of variant: help LB/B
Residue change: help From Arginine (R) to Glutamine (Q) at position 314 (R314Q, p.Arg314Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 314
Protein sequence length: help 940
Location on the sequence: help DDEELVHIFLLILRALQLLT R LVLSLQPIPLKSATAKGKKP
Residue conservation: help 
Human                         DDEELVHIFLLILRALQLLTRLVLSLQPIPLKSATAK----------------------------------GKKP

Mouse                         DNEELVHIFLLILRALQLLTRLVLSLQPIPLKSAVTK----

Drosophila                    CKQDMIFIFIALARGMGMHCRLIVNLQPMPLRPAASDLIPI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 940 DNA repair protein complementing XP-C cells
Alternative sequence 141 – 940 Missing. In isoform 3.



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-16; PHE-48; ARG-86; GLN-314; HIS-492; VAL-499; ILE-513; GLU-632; HIS-671; MET-689; GLN-928 AND LYS-939;
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.