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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P46597: Variant p.Val166Ile

Acetylserotonin O-methyltransferase
Gene: ASMT
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Variant information Variant position: help 166
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 166 (V166I, p.Val166Ile).
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 166
Protein sequence length: help 345
Location on the sequence: help IYRSEGERLQFMQALQEVWS V NGRSVLTAFDLSVFPLMCDL
Residue conservation: help 
Human                         IYRSEGERLQFMQALQEVWSVNGRSVLTAFDLSVFPLMCDL

Rhesus macaque                IYRSEGERLQFMQALQEVWSVNGRSVLTAFDLSGFPLMCDL

Mouse                         IYRSEAERLLFMRGLQETWSLCGGRVLTAFDLSPFRVICDL

Rat                           IYRSEPERLLFMRGLQETWSLCGGRVLTAFDLSRFRVICDL

Bovine                        IYRSEDERLQFMQGLQDVWRLEGATVLAAFDLSPFPLICDL

Chicken                       RYRSEEEMLKFLAGQNSIWSICGRDVLTAFDLSPFTQIYDL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 345 Acetylserotonin O-methyltransferase
Binding site 147 – 147
Binding site 164 – 164
Helix 164 – 173



Literature citations
Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
Wang L.; Li J.; Ruan Y.; Lu T.; Liu C.; Jia M.; Yue W.; Liu J.; Bourgeron T.; Zhang D.;
PLoS ONE 8:E53727-E53727(2013)
Cited for: VARIANTS LYS-17; TRP-115; SER-151; ILE-166; GLY-179; MET-211; MET-217 AND LEU-243;
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.