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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P46597: Variant p.Lys81Glu

Acetylserotonin O-methyltransferase
Gene: ASMT
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Variant information Variant position: help 81
Type of variant: help LB/B
Residue change: help From Lysine (K) to Glutamate (E) at position 81 (K81E, p.Lys81Glu).
Physico-chemical properties: help Change from large size and basic (K) to medium size and acidic (E)
BLOSUM score: help 1
Variant description: help No effect on enzyme activity.
Other resources: help


Sequence information Variant position: help 81
Protein sequence length: help 345
Location on the sequence: help ELLLDICVSLKLLKVETRGG K AFYRNTELSSDYLTTVSPTS
Residue conservation: help 
Human                         ELLLDICVSLKLLKVETRGG--KAFYRNTELSSDYLTTVSPTS

Rhesus macaque                ELLLDTCVSLKLLKVETRAG--KAFYQNTELSSAYLTRVSP

Mouse                         RLLLDACAGLGLLRRRRGAGPRGPAYTNSPLASTFLVAGSP

Rat                           QLLMDACTRLGLLR---GAG--DGSYTNSALSSTFLVSGSP

Bovine                        ELLLNTCVSLKLLQADVRGG--KAVYANTELASTYLVRGSP

Chicken                       ERLLDACVGLKLLAVELRRE--GAFYRNTEISNIYLTKSSP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 345 Acetylserotonin O-methyltransferase
Beta strand 81 – 86



Literature citations
Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway.
Botros H.G.; Legrand P.; Pagan C.; Bondet V.; Weber P.; Ben-Abdallah M.; Lemiere N.; Huguet G.; Bellalou J.; Maronde E.; Beguin P.; Haouz A.; Shepard W.; Bourgeron T.;
J. Pineal Res. 54:46-57(2013)
Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) IN COMPLEXES WITH S-ADENOSYL-L-METHIONINE; N-ACETYL SEROTONIN AND ZINC IONS; CATALYTIC ACTIVITY; FUNCTION; ACTIVE SITE; CHARACTERIZATION OF ISOFORMS 1; 2 AND 3; SUBUNIT; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS HIS-13; LYS-17; GLN-61; GLU-81; MET-171; GLY-210; ARG-219; LEU-243; MET-269; SER-273; ALA-278; ASP-288; GLN-291; PHE-298 AND MET-305; MUTAGENESIS OF LEU-11; ARG-111; TYR-248; THR-296 AND HIS-318; Abnormal melatonin synthesis in autism spectrum disorders.
Melke J.; Goubran Botros H.; Chaste P.; Betancur C.; Nygren G.; Anckarsater H.; Rastam M.; Stahlberg O.; Gillberg I.C.; Delorme R.; Chabane N.; Mouren-Simeoni M.C.; Fauchereau F.; Durand C.M.; Chevalier F.; Drouot X.; Collet C.; Launay J.M.; Leboyer M.; Gillberg C.; Bourgeron T.;
Mol. Psychiatry 13:90-98(2008)
Cited for: VARIANTS LYS-17; GLU-81; ALA-278 AND PHE-298;
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.