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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16455: Variant p.Ile143Val

Methylated-DNA--protein-cysteine methyltransferase
Gene: MGMT
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Variant information Variant position: help 143
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Valine (V) at position 143 (I143V, p.Ile143Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 143
Protein sequence length: help 207
Location on the sequence: help NPKAARAVGGAMRGNPVPIL I PCHRVVCSSGAVGNYSGGLA
Residue conservation: help 
Human                         NPKAARAVGGAMRGNPVPILIPCHRVVCSSGAVGNYS-GGLA

                              NPKAARAVGGAMRSNPVPILIPCHRVVCSSGAMGNYT-GGL

Mouse                         NPKAARAVGGAMRSNPVPILIPCHRVVRSDGAIGHYSGGGQ

Rat                           NPKAARAVGGAMRSNPVPILIPCHRVIRSDGAIGNYSGGGQ

Baker's yeast                 KPTAARSVGRACGSNNLALLVPCHRIVGSNRKLTGYK-WSC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 207 Methylated-DNA--protein-cysteine methyltransferase
Active site 145 – 145 Nucleophile; methyl group acceptor
Binding site 123 – 123
Binding site 128 – 128
Binding site 151 – 151
Mutagenesis 128 – 128 R -> AD. Decreases activity towards methylated DNA over 1000-fold. No effect on reactivity with O6-benzylguanine.
Mutagenesis 128 – 128 R -> G. Loss of DNA repair activity.
Mutagenesis 128 – 128 R -> KL. Slightly reduced DNA repair activity.
Mutagenesis 138 – 138 P -> K. Decreased reactivity with O6-benzylguanine.
Mutagenesis 140 – 140 P -> A. Decreased reactivity with O6-benzylguanine.
Mutagenesis 145 – 145 C -> A. Loss of DNA repair activity.
Mutagenesis 156 – 156 G -> A. Decreased reactivity with O6-benzylguanine.
Mutagenesis 158 – 158 Y -> A. Reduced DNA repair activity. Decreased reactivity with O6-benzylguanine.
Mutagenesis 158 – 158 Y -> F. Slightly reduced DNA repair activity.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.