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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14524: Variant p.Phe1705Ser

Sodium channel protein type 5 subunit alpha
Gene: SCN5A
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Variant information Variant position: help 1705 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Phenylalanine (F) to Serine (S) at position 1705 (F1705S, p.Phe1705Ser). 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: help Change from large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In SIDS; causes a hyperpolarizing shift of steady-state inactivation and delayed recovery from inactivation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1705 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2016 The length of the canonical sequence.
Location on the sequence: help EAGIDDMFNFQTFANSMLCL F QITTSAGWDGLLSPILNTGP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGP

Mouse                         EAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGP

Rat                           EAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGP
Sequence annotation in neighborhood: help 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 – 2016 Sodium channel protein type 5 subunit alpha
Intramembrane 1697 – 1719 Pore-forming
Repeat 1510 – 1807 IV
Helix 1697 – 1708



Literature citations
Cardiac ion channel gene mutations in sudden infant death syndrome.
Otagiri T.; Kijima K.; Osawa M.; Ishii K.; Makita N.; Matoba R.; Umetsu K.; Hayasaka K.;
Pediatr. Res. 64:482-487(2008)
Cited for: VARIANTS SIDS CYS-532; SER-1084 AND SER-1705; CHARACTERIZATION OF VARIANT SIDS SER-1705;
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.