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UniProtKB/Swiss-Prot Q03468: Variant p.Thr1441Ile

DNA excision repair protein ERCC-6
Gene: ERCC6
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Variant information Variant position: help 1441
Type of variant: help LB/B
Residue change: help From Threonine (T) to Isoleucine (I) at position 1441 (T1441I, p.Thr1441Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 1441
Protein sequence length: help 1493
Location on the sequence: help TTEHDDLLVEMRNFIAFQAH T DGQASTREILQEFESKLSAS
Residue conservation: help 
Human                         T-TEHDDLLVEMRNFIAFQAHTDGQASTREILQEFESKLSAS

Mouse                         CGTEHDDLLVDMRNFIAFQAQVDGQASTQEILQEFESKLSV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1493 DNA excision repair protein ERCC-6
Region 1429 – 1493 Winged-helix domain (WHD)
Mutagenesis 1457 – 1457 K -> R. No loss of sumoylation; when associated with R-1487 and R-1489.



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.