UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1547

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Threonine (T) to Isoleucine (I) at position 1547 (T1547I, p.Thr1547Ile).

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 (T) to medium size and hydrophobic (I)

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

Involvement in disease:

Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:17245405}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In ATFB12; compromises adenine nucleotide-dependent induction of KATP current; mutant ABCC9 that is co-expressed with KCNJ11 pore generates an aberrant channel that retains ATP-induced inhibition of potassium current, but shows a blunted response to ADP.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs387906805 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1547

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

Protein sequence length:

1549

The length of the canonical sequence.

Location on the sequence:

CDTVPNLLAHKNGLFSTLVM T NK

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                         CDTVPNLLAHKNGL-----FSTLVMTNK

Mouse                         CDTGPNLLQHKNGL-----FSTL

Rat                           CDTGPNLLQHKNGL-----FSTL

Rabbit                        CDTGPNLLTHKNGL-----FSTL

Slime mold                    FENPKNLINSNSKFRKIVNFQTK

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 – 1549	ATP-binding cassette sub-family C member 9
Topological domain	1267 – 1549	Cytoplasmic
Alternative sequence	1508 – 1549	SSIMDAGLVLVFSEGILVECDTVPNLLAHKNGLFSTLVMTNK -> HTILTADLVIVMKRGNILEYDTPESLLAQENGVFASFVRADM. In isoform SUR2B.

Literature citations

KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
Olson T.M.; Alekseev A.E.; Moreau C.; Liu X.K.; Zingman L.V.; Miki T.; Seino S.; Asirvatham S.J.; Jahangir A.; Terzic A.;
Nat. Clin. Pract. Cardiovasc. Med. 4:110-116(2007)
Cited for: VARIANT ATFB12 ILE-1547; CHARACTERIZATION OF VARIANT ATFB12 ILE-1547;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60706: Variant p.Thr1547Ile