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UniProtKB/Swiss-Prot P21397: Variant p.Cys266Phe

Amine oxidase [flavin-containing] A
Gene: MAOA
Variant information

Variant position:  266
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Cysteine (C) to Phenylalanine (F) at position 266 (C266F, p.Cys266Phe).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (C) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  Probable disease-associated variant found in a family with Brunner syndrome-like behavioral disturbances; reduced activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   HVDQSSDNIIIETLNHEHYE  C KYVINAIPPTLTAKIHFRPE
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                         HVDQSSDNIIIETLNHEHYECKYVINAIPPTLTAKIHFRPE

                              YVDQSDDNIIIETLNHELYECKYVISAIPPTLTAKIHFRPE

Mouse                         YIDQTDDNIIIETLNHEHYECKYVISAIPPVLTAKIHFKPE

Rat                           YIDQTDDNIIVETLNHEHYECKYVISAIPPILTAKIHFKPE

Pig                           YVDQSGDNIIVETLNHELYECQYVISAIPPTLTAKIHFRPE

Bovine                        YVDQSSENITVETLNRELYECRYVISAIPPTLTAKIHFRPE

Horse                         YVDQSGDNIIVETLNHEHFECKYVISAIPPALTAKIHFKPE

Slime mold                    SIIQDANQCTIKTDNGSTYRSKYIVVAIPPTLAGRIHYSPS

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.

TypePositionsDescription
Chain 1 – 527 Amine oxidase [flavin-containing] A
Topological domain 1 – 497 Cytoplasmic
Mutagenesis 266 – 266 C -> S. No loss of activity.
Beta strand 263 – 271


Literature citations

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;

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.