UniProtKB/Swiss-Prot P21397: Variant p.Cys266Phe

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

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

LB/B 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
Polymorphism:

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. Additional information on the polymorphism described.
Variant description:

Found in a family with Brunner syndrome-like behavioral disturbances; likely pathogenic; reduced activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs587777457 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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; FUNCTION; CATALYTIC ACTIVITY; 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.