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UniProtKB/Swiss-Prot Q01484: Variant p.Leu3740Ile

Ankyrin-2
Gene: ANK2
Variant information

Variant position:  3740
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 Leucine (L) to Isoleucine (I) at position 3740 (L3740I, p.Leu3740Ile).
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:  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

Involvement in disease:  Long QT syndrome 4 (LQT4) [MIM:600919]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature. {ECO:0000269|PubMed:12571597, ECO:0000269|PubMed:15178757, ECO:0000269|PubMed:17940615}. 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 LQT4; loss of function.
Any additional useful information about the variant.

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



Sequence information

Variant position:  3740
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  3957
The length of the canonical sequence.

Location on the sequence:   GYSTFQDGVPKTEGDSSATA  L FPQTHKEQVQQDFSGKMQDL
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.

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 – 3957 Ankyrin-2
Modified residue 3735 – 3735 Phosphoserine


Literature citations

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
Mohler P.J.; Splawski I.; Napolitano C.; Bottelli G.; Sharpe L.; Timothy K.; Priori S.G.; Keating M.T.; Bennett V.;
Proc. Natl. Acad. Sci. U.S.A. 101:9137-9142(2004)
Cited for: VARIANTS LQT4 GLY-1458; ILE-3740; ASN-3744; TRP-3906 AND LYS-3931; CHARACTERIZATION OF VARIANTS LQT4;

Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.
Mohler P.J.; Healy J.A.; Xue H.; Puca A.A.; Kline C.F.; Allingham R.R.; Kranias E.G.; Rockman H.A.; Bennett V.;
PLoS ONE 2:E1051-E1051(2007)
Cited for: VARIANTS LQT4 GLY-1458; ILE-3740; ASN-3744; TRP-3906 AND LYS-3931; VARIANT ASP-1555;

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.