UniProtKB/Swiss-Prot O60503: Variant p.Ile772Met

Adenylate cyclase type 9
Gene: ADCY9
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Variant information Variant position:

772 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 Isoleucine (I) to Methionine (M) at position 772 (I772M, p.Ile772Met). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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:

Found in 37.5% of the Asian population, in 30% of the Caucasian population and in 16.3% of the African-American population; reduced adenylyl cyclase activity in response to stimulation of the beta-adregnergic receptor by Mn(2+) agonists isoproteronol and NaF; increased albuterol-stimulated adenylyl cyclase activity in the presence of corticosteroid. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2230739 [ dbSNP | Ensembl ]

Sequence information Variant position:

772 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1353 The length of the canonical sequence.
Location on the sequence:

LNFLDQELERSYRTSYQEEV I KNSPVKTFASPTFSSLLDVF 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                         LNFLDQELERSYRTSYQEEVIKNSPVKTFASPTFSSLLDVF

Mouse                         LNFLDQELERSYRTSYQEEVIKNSPVKTFASATFSSLLDVF

Chicken                       LNFLDQDLEMAYRTSYQEEVMRNAPVKTFASATFSSLLDVF

Xenopus laevis                LNFLDKELETSYRASYQEEVIRMAPVKTFASATFSSLQDVL

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 – 1353	Adenylate cyclase type 9
Topological domain	302 – 786	Cytoplasmic

Literature citations
An Ile to Met polymorphism in the catalytic domain of adenylyl cyclase type 9 confers reduced beta2-adrenergic receptor stimulation.
Small K.M.; Brown K.M.; Theiss C.T.; Seman C.A.; Weiss S.T.; Liggett S.B.;
Pharmacogenetics 13:535-541(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; CATALYTIC ACTIVITY; TISSUE SPECIFICITY; VARIANT MET-772; Molecular properties and pharmacogenetics of a polymorphism of adenylyl cyclase type 9 in asthma: interaction between beta-agonist and corticosteroid pathways.
Tantisira K.G.; Small K.M.; Litonjua A.A.; Weiss S.T.; Liggett S.B.;
Hum. Mol. Genet. 14:1671-1677(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; VARIANT MET-772;

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.