Variant position: 266 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 527 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human HVDQSSDNIIIETLNHEHYE CKYVINAIPPTLTAKIHFRPE
Mouse YIDQTDDNIIIETLNHEHYE CKYVISAIPPVLTAKIHFKPE
Rat YIDQTDDNIIVETLNHEHYE CKYVISAIPPILTAKIHFKPE
Pig YVDQSGDNIIVETLNHELYE CQYVISAIPPTLTAKIHFRPE
Bovine YVDQSSENITVETLNRELYE CRYVISAIPPTLTAKIHFRPE
Horse YVDQSGDNIIVETLNHEHFE CKYVISAIPPALTAKIHFKPE
Slime mold SIIQDANQCTIKTDNGSTYR SKYIVVAIPPTLAGRIHYSPS
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 527 Amine oxidase [flavin-containing] A
1 – 497 Cytoplasmic
266 – 266 C -> S. No loss of activity.
263 – 271
20 ans apres: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Piton A.; Poquet H.; Redin C.; Masurel A.; Lauer J.; Muller J.; Thevenon J.; Herenger Y.; Chancenotte S.; Bonnet M.; Pinoit J.M.; Huet F.; Thauvin-Robinet C.; Jaeger A.S.; Le Gras S.; Jost B.; Gerard B.; Peoc'h K.; Launay J.M.; Faivre L.; Mandel J.L.;
Eur. J. Hum. Genet. 22:776-783(2014)
Cited for: VARIANT PHE-266; CHARACTERIZATION OF VARIANT PHE-266;
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.