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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21397: Variant p.Phe314Val

Amine oxidase [flavin-containing] A
Gene: MAOA
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Variant information Variant position: help 314
Type of variant: help LB/B
Residue change: help From Phenylalanine (F) to Valine (V) at position 314 (F314V, p.Phe314Val).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (V)
BLOSUM score: help -1
Polymorphism: help A polymorphism 1.2 kb upstream of the MAOA coding sequences consists of a 30-bp repeated sequence present in 3, 3.5, 4, or 5 copies. The polymorphism affect transcriptional activity of the MAOA gene promoter. Alleles with 3.5 or 4 copies of the repeat sequence are transcribed 2 to 10 times more efficiently than those with 3 or 5 copies of the repeat.
Other resources: help


Sequence information Variant position: help 314
Protein sequence length: help 527
Location on the sequence: help LIQRLPMGAVIKCMMYYKEA F WKKKDYCGCMIIEDEDAPIS
Residue conservation: help 
Human                         LIQRLPMGAVIKCMMYYKEAFWKKKDYCGCMIIEDEDAPIS

                              LIQRLPMGAIIKCMMYYKEAFWKKKDYCGCMIIEDEEAPIS

Mouse                         LIQRLPMGAVIKCMVYYKEAFWKKKDYCGCMIIEDEEAPIS

Rat                           LIQRLPMGAVIKCMVYYKEAFWKKKDYCGCMIIEDEEAPIA

Pig                           LIQRLPMGAIIKCMMYYKEAFWKKKNYCGCMIIEDEEAPIS

Bovine                        LIQRLPMGAVIKCMMYYKEAFWKKKDYCGCMIIEDEEAPIS

Horse                         LIQRLPMGAIIKCMMYYKEAFWKKKDYCGSMIIEDEEAPIS

Slime mold                    LTQRMPMGSVIKTITIYDEPFWRKEGYSAEAI--SDKGPIF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 527 Amine oxidase [flavin-containing] A
Topological domain 1 – 497 Cytoplasmic
Mutagenesis 306 – 306 C -> S. No loss of activity.
Mutagenesis 321 – 321 C -> S. No loss of activity.
Mutagenesis 323 – 323 C -> S. No loss of activity.
Helix 314 – 317



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.