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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q03468: Variant p.Gly446Asp

DNA excision repair protein ERCC-6
Gene: ERCC6
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Variant information Variant position: help 446
Type of variant: help LB/B
Residue change: help From Glycine (G) to Aspartate (D) at position 446 (G446D, p.Gly446Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 446
Protein sequence length: help 1493
Location on the sequence: help FFPSSGEEAEAASVGEGGGG G RKVGRYRDDGDEDYYKQRLR
Residue conservation: help 
Human                         FFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLR

Mouse                         FFPSSEEEDEAM---EGRGGGRKVARRQDDGDEDYYKQRLR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1493 DNA excision repair protein ERCC-6
Region 1 – 510 N-terminal domain; essential for its chromatin remodeling activity
Region 344 – 453 Disordered
Modified residue 429 – 429 Phosphoserine
Modified residue 430 – 430 Phosphoserine
Modified residue 448 – 448 N6-methylated lysine; by EHMT2



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASP-399; ALA-425; ASP-446; MET-942; CYS-1002; ARG-1095; VAL-1097; GLY-1213; PRO-1230; LEU-1308; VAL-1322; ARG-1372; ARG-1382; ARG-1410; ARG-1413 AND ILE-1441;
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.