UniProtKB/Swiss-Prot Q07699: Variant p.Ile106Thr

Sodium channel subunit beta-1
Gene: SCN1B
Chromosomal location: 19q13.1
Variant information

Variant position:  106
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Isoleucine (I) to Threonine (T) at position 106 (I106T, p.Ile106Thr).
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 hydrophobic (I) to medium size and polar (T)
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:  Epileptic encephalopathy, early infantile, 52 (EIEE52) [MIM:617350]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE52 inheritance is autosomal recessive. {ECO:0000269|PubMed:19710327, ECO:0000269|PubMed:23148524}. 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 EIEE52; unknown pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  106
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  218
The length of the canonical sequence.

Location on the sequence:   FEGRVVWNGSRGTKDLQDLS  I FITNVTYNHSGDYECHVYRL
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                         FEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRL

                              FEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRL

Chimpanzee                    FEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRL

Mouse                         FEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRL

Rat                           FEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRL

Bovine                        FEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRL

Rabbit                        FEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYQCHVYRL

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 19 – 218 Sodium channel subunit beta-1
Topological domain 19 – 160 Extracellular
Domain 22 – 150 Ig-like C2-type
Glycosylation 93 – 93 N-linked (GlcNAc...) asparagine
Glycosylation 110 – 110 N-linked (GlcNAc...) asparagine
Glycosylation 114 – 114 N-linked (GlcNAc...) asparagine
Disulfide bond 40 – 121


Literature citations

A homozygous mutation of voltage-gated sodium channel beta(I) gene SCN1B in a patient with Dravet syndrome.
Ogiwara I.; Nakayama T.; Yamagata T.; Ohtani H.; Mazaki E.; Tsuchiya S.; Inoue Y.; Yamakawa K.;
Epilepsia 53:E200-E203(2012)
Cited for: VARIANT EIEE52 THR-106;

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.