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UniProtKB/Swiss-Prot Q07699: Variant p.Arg125Cys

Sodium channel subunit beta-1
Gene: SCN1B
Variant information

Variant position:  125
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 Arginine (R) to Cysteine (C) at position 125 (R125C, p.Arg125Cys).
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 large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 DEE52; severely decreased channel localization at the cell membrane.
Any additional useful information about the variant.

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



Sequence information

Variant position:  125
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:   SIFITNVTYNHSGDYECHVY  R LLFFENYEHNTSVVKKIHIE
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                         SIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIE

                              SIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIE

Chimpanzee                    SIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIE

Mouse                         SIFITNVTYNHSGDYECHVYRLLFFDNYEHNTSVVKKIHLE

Rat                           SIFITNVTYNHSGDYECHVYRLLFFDNYEHNTSVVKKIHLE

Bovine                        SIFITNVTYNHSGDYECHVYRLLFFDNYEHNTSVVKKIHLE

Rabbit                        SIFITNVTYNHSGDYQCHVYRLLSFENYEHNTSVVKKIHLE

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 110 – 110 N-linked (GlcNAc...) asparagine
Glycosylation 114 – 114 N-linked (GlcNAc...) asparagine
Glycosylation 135 – 135 N-linked (GlcNAc...) asparagine


Literature citations

A functional null mutation of SCN1B in a patient with Dravet syndrome.
Patino G.A.; Claes L.R.; Lopez-Santiago L.F.; Slat E.A.; Dondeti R.S.; Chen C.; O'Malley H.A.; Gray C.B.; Miyazaki H.; Nukina N.; Oyama F.; De Jonghe P.; Isom L.L.;
J. Neurosci. 29:10764-10778(2009)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN DEE52; VARIANT DEE52 CYS-125; CHARACTERIZATION OF VARIANT DEE52 CYS-125;

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.