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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11086: Variant p.Ser188Cys

Phenylethanolamine N-methyltransferase
Gene: PNMT
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Variant information Variant position: help 188
Type of variant: help LB/B
Residue change: help From Serine (S) to Cysteine (C) at position 188 (S188C, p.Ser188Cys).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (C)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 188
Protein sequence length: help 282
Location on the sequence: help GSPAPLPADALVSAFCLEAV S PDLASFQRALDHITTLLRPG
Residue conservation: help 
Human                         GSPAPLPADALVSAFCLEAVSPDLASFQRALDHITTLLRPG

Rhesus macaque                GSPAPLPADTLVSAFCLEAVSPDLASFQRALDHITTLLRPG

Mouse                         PSLVPLPADALVSAFCLEAVSPDLTSFQRALHHITTLLRPG

Rat                           SGLAPLPADALVSAFCLEAVSPDLPSFRQALYHITTLLRPG

Pig                           GSLAPLPADALVSAFCLEAVSPDLASFQRALDHITTLLRSG

Bovine                        GGLAPLPADALVSAFCLEAVSPDLASFQRALDHITTLLRPG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 282 Phenylethanolamine N-methyltransferase
Binding site 181 – 181
Mutagenesis 185 – 185 E -> AQ. Strongly reduced enzyme activity towards phenylethanolamine. Increases affinity for S-adenosyl-L-methionine.
Mutagenesis 185 – 185 E -> D. Strongly reduced enzyme activity towards phenylethanolamine. Decreases affinity for phenylethanolamine and S-adenosyl-L-methionine 3-fold.



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.