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UniProtKB/Swiss-Prot Q9NP87: Variant p.Leu484Phe

DNA-directed DNA/RNA polymerase mu
Gene: POLM
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Variant information Variant position: help 484
Type of variant: help LB/B
Residue change: help From Leucine (L) to Phenylalanine (F) at position 484 (L484F, p.Leu484Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and aromatic (F)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 484
Protein sequence length: help 494
Location on the sequence: help PEQKTFFQAASEEDIFRHLG L EYLPPEQRNA
Residue conservation: help 
Human                         PEQKTFFQAASEEDIFRHLGLEYLPPEQRNA

Mouse                         PEQKRVFHATSEEDVFRLLGLKYLPPEQRNA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 494 DNA-directed DNA/RNA polymerase mu
Alternative sequence 467 – 494 KTFFQAASEEDIFRHLGLEYLPPEQRNA -> GSSSGKTPRSRKSCFCCRRHFSKRLQRKTSSDTWALSTFLQSRETPEPACVPHFHSGNWAAPNLATECLQADMLPPDPHLHPSPPRPGSSGGQLCLQDQLSPCWCAAGCDEVGALSASLITV. In isoform 3.



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASP-107; ALA-220; PHE-246 AND PHE-484;
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.