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UniProtKB/Swiss-Prot P35498: Variant p.Ile171Lys

Sodium channel protein type 1 subunit alpha
Gene: SCN1A
Variant information

Variant position:  171
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 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 Lysine (K) at position 171 (I171K, p.Ile171Lys).
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 large size and basic (K)
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 EIEE6.
Any additional useful information about the variant.

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



Sequence information

Variant position:  171
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2009
The length of the canonical sequence.

Location on the sequence:   PDWTKNVEYTFTGIYTFESL  I KIIARGFCLEDFTFLRDPWN
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                         PDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWN

Mouse                         PDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWN

Rat                           PDWTKNVEYTFTGIYTFESLIKIIARGFCLEDFTFLRDPWN

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 1 – 2009 Sodium channel protein type 1 subunit alpha
Transmembrane 155 – 175 Helical; Name=S2 of repeat I
Repeat 110 – 454 I


Literature citations

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Depienne C.; Trouillard O.; Saint-Martin C.; Gourfinkel-An I.; Bouteiller D.; Carpentier W.; Keren B.; Abert B.; Gautier A.; Baulac S.; Arzimanoglou A.; Cazeneuve C.; Nabbout R.; LeGuern E.;
J. Med. Genet. 46:183-191(2009)
Cited for: VARIANTS GLN-542; HIS-604; THR-924; ILE-1079; THR-1109; ASP-1308; CYS-1575 AND GLY-1928; VARIANTS EIEE6 VAL-58; PHE-61; HIS-79; GLN-101; TRP-101; ASN-124; ARG-171; VAL-175; LYS-191; TYR-191; GLY-194; GLU-223; SER-227; SER-232; TYR-243; ARG-277; LEU-281; SER-281; ILE-322; PHE-340; ASP-343; ARG-345; ASP-355; ILE-357; GLN-378; CYS-393; MET-400 DEL; CYS-426; PHE-525; GLY-626; ARG-843; CYS-859; LYS-875; LEU-896; PHE-927; CYS-931; ILE-934; PRO-939; ASN-943; SER-949; TYR-949; LYS-973; PRO-986; GLY-998; LYS-1068; GLY-1239; TYR-1239; ASP-1255; VAL-1275; SER-1284; PHE-1289 DEL; SER-1316; PRO-1328; LYS-1367; SER-1391; GLY-1416; ILE-1431; MET-1437; PHE-1473 DEL; ILE-1483 DEL; GLY-1484; ILE-1538; ALA-1544; LYS-1561; GLU-1579; GLU-1586; CYS-1596; LEU-1596; ILE-1612; GLY-1639; HIS-1648; ARG-1658; MET-1658; LYS-1664; ARG-1675; PHE-1677; LYS-1714; CYS-1725; ASN-1771; THR-1780; HIS-1781; MET-1782; SER-1782; THR-1783; VAL-1783; LYS-1788; ILE-1808; SER-1812; 1813-GLU--PHE-1815 DEL AND PHE-1835;

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
Heron S.E.; Scheffer I.E.; Iona X.; Zuberi S.M.; Birch R.; McMahon J.M.; Bruce C.M.; Berkovic S.F.; Mulley J.C.;
J. Med. Genet. 47:137-141(2010)
Cited for: VARIANTS EIEE6 CYS-84; GLN-101; LYS-171; THR-175; ASN-194; SER-227; PHE-406; ASN-413; PRO-783; GLU-944; LEU-945; HIS-946; GLU-950; GLY-1396; LYS-1450; VAL-1545; GLN-1645; ARG-1726 AND THR-1783; VARIANTS HIS-604; GLN-1636 AND HIS-1657;

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.