UniProtKB/Swiss-Prot P62158: Variant p.Asn98Ser

Calmodulin
Gene: CALM3
Chromosomal location: 19q13.2-q13.3
Variant information

Variant position:  98
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Asparagine (N) to Serine (S) at position 98 (N98S, p.Asn98Ser).
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 (N) to small size and polar (S)
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 CPVT4; the mutant has significantly reduced Ca(2+) affinity compared to wild-type; calmodulin-RYR2 interaction is defective at low intracellular Ca(2+) concentrations and restored at moderate to high Ca(2+) concentrations.
Any additional useful information about the variant.



Sequence information

Variant position:  98
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  149
The length of the canonical sequence.

Location on the sequence:   KDTDSEEEIREAFRVFDKDG  N GYISAAELRHVMTNLGEKLT
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                         KDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLT

Mouse                         KDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLT

Rat                           KDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLT

Bovine                        KDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLT

Rabbit                        KDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLT

Sheep                         KDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLT

Chicken                       KDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLT

Xenopus laevis                KDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLT

Zebrafish                     KDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLT

Caenorhabditis elegans        KDTDSEEEIREAFRVFDKDGNGFISAAELRHVMTNLGEKLT

Drosophila                    KDTDSEEEIREAFRVFDKDGNGFISAAELRHVMTNLGEKLT

Slime mold                    QDTDTEEEIREAFKVFDKDGNGYISAAELRHVMTSLGEKLT

Baker's yeast                 KSNDSEQELLEAFKVFDKNGDGLISAAELKHVLTSIGEKLT

Fission yeast                 KDTDNEEEVREAFKVFDKDGNGYITVEELTHVLTSLGERLS

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 2 – 149 Calmodulin
Domain 81 – 116 EF-hand 3
Calcium binding 94 – 105 3
Modified residue 95 – 95 N6-acetyllysine
Modified residue 100 – 100 Phosphotyrosine
Modified residue 102 – 102 Phosphoserine
Modified residue 116 – 116 N6,N6,N6-trimethyllysine
Beta strand 97 – 101


Literature citations

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
Nyegaard M.; Overgaard M.T.; Sondergaard M.T.; Vranas M.; Behr E.R.; Hildebrandt L.L.; Lund J.; Hedley P.L.; Camm A.J.; Wettrell G.; Fosdal I.; Christiansen M.; Borglum A.D.;
Am. J. Hum. Genet. 91:703-712(2012)
Cited for: VARIANTS CPVT4 ILE-54 AND SER-98; CHARACTERIZATION OF VARIANTS CPVT4 ILE-54 AND SER-98;

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.