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UniProtKB/Swiss-Prot Q9NUW8: Variant p.Pro566Leu

Tyrosyl-DNA phosphodiesterase 1
Gene: TDP1
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Variant information Variant position: help 566
Type of variant: help LB/B
Residue change: help From Proline (P) to Leucine (L) at position 566 (P566L, p.Pro566Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In autosomal recessive or sporadic spinocerebellar ataxia affected Japanese individuals.
Other resources: help


Sequence information Variant position: help 566
Protein sequence length: help 608
Location on the sequence: help SAFGLDSFKVKQKFFAGSQE P MATFPVPYDLPPELYGSKDR
Residue conservation: help 
Human                         SAF-GLD---------SFKVKQKFFAGSQEPMATFP-----VPYDLPPELYG-SKDR

Mouse                         SAF-GLD---------TFKVKQKFFSSSCEPTASFP-----

Rat                           SAF-GLD---------TFKVKQKFFSSSSEPMASFP-----

Caenorhabditis elegans        ----------------------------TDP-SRFN-----

Drosophila                    RFVTGED---------TFP-----LGNNRDGVPAFP-----

Baker's yeast                 RRL-AN----------TRKVTCRTFTRDRRGCAGNP-THVA

Fission yeast                 KLF-EESQRAPCIMTPTYKTNTPNLDEKRREFYGKRVIGVR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 608 Tyrosyl-DNA phosphodiesterase 1



Literature citations
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
Takashima H.; Boerkoel C.F.; John J.; Saifi G.M.; Salih M.A.M.; Armstrong D.; Mao Y.; Quiocho F.A.; Roa B.B.; Nakagawa M.; Stockton D.W.; Lupski J.R.;
Nat. Genet. 32:267-272(2002)
Cited for: VARIANT SCAN1 ARG-493; VARIANT LEU-566; TISSUE SPECIFICITY;
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.