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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14524: Variant p.Phe1250Leu

Sodium channel protein type 5 subunit alpha
Gene: SCN5A
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Variant information Variant position: help 1250 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 Leucine (L) at position 1250 (F1250L, p.Phe1250Leu). 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 medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 LQT3; drug-induced LQT syndrome. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1250 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 EERKTIKVLLEYADKMFTYV F VLEMLLKWVAYGFKKYFTNA 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                         EERKTIKVLLEYADKMFTYVFVLEMLLKWVAYGFKKYFTNA

Mouse                         EERKTIKVLLEYADKMFTYVFVLEMLLKWVAYGFKKYFTNA

Rat                           EERKTIKVLLEYADKMFTYVFVLEMLLKWVAYGFKKYFTNA
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
Transmembrane 1237 – 1259 Helical; Name=S2 of repeat III
Repeat 1187 – 1501 III
Helix 1233 – 1267



Literature citations
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
Yang P.; Kanki H.; Drolet B.; Yang T.; Wei J.; Viswanathan P.C.; Hohnloser S.H.; Shimizu W.; Schwartz P.J.; Stanton M.; Murray K.T.; Norris K.; George A.L. Jr.; Roden D.M.;
Circulation 105:1943-1948(2002)
Cited for: VARIANTS LQT3 GLU-615; PHE-619 AND LEU-1250; VARIANTS CYS-34 AND ARG-558;
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.