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UniProtKB/Swiss-Prot O60706: Variant p.Thr1547Ile

ATP-binding cassette sub-family C member 9
Gene: ABCC9
Variant information

Variant position:  1547
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 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

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.

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.

Chain 1 – 1549 ATP-binding cassette sub-family C member 9
Topological domain 1267 – 1549 Cytoplasmic

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)

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.