UniProtKB/Swiss-Prot P35498: Variant p.Ala1067Thr

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

1067 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Alanine (A) to Threonine (T) at position 1067 (A1067T, p.Ala1067Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Other resources:

Links to websites of interest for the variant.

Variant rs2298771 [ dbSNP | Ensembl ]

Sequence information Variant position:

1067 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:

EIKPLDDLNNKKDSCMSNHT A EIGKDLDYLKDVNGTTSGIG 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                         EIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVNGTTSGIG

Mouse                         EIKPLDDLNNRKDNCISNHTTEIGKDLDCLKDVNGTTSGIG

Rat                           EIKPLDDLNNRKDNCTSNHTTEIGKDLDCLKDVNGTTSGIG

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.

Type	Positions	Description
Chain	1 – 2009	Sodium channel protein type 1 subunit alpha
Topological domain	992 – 1219	Cytoplasmic

Literature citations
Isoforms of human sodium channel SCN1A gene.
Ouchida M.; Ohmori I.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); VARIANT THR-1067; ALTERNATIVE SPLICING; Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
Wallace R.H.; Scheffer I.E.; Barnett S.; Richards M.; Dibbens L.; Desai R.R.; Lerman-Sagie T.; Lev D.; Mazarib A.; Brand N.; Ben-Zeev B.; Goikhman I.; Singh R.; Kremmidiotis G.; Gardner A.; Sutherland G.R.; George A.L. Jr.; Mulley J.C.; Berkovic S.F.;
Am. J. Hum. Genet. 68:859-865(2001)
Cited for: VARIANTS GEFSP2 VAL-188; LEU-1353 AND MET-1656; VARIANTS THR-1067 AND GLY-1928; Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
Ohmori I.; Ouchida M.; Ohtsuka Y.; Oka E.; Shimizu K.;
Biochem. Biophys. Res. Commun. 295:17-23(2002)
Cited for: VARIANTS DRVT CYS-902; CYS-931; PRO-1265; PHE-1289 DEL; MET-1390; ARG-1434; ARG-1450; CYS-1648 AND ARG-1674 AND ILE-1909; VARIANT THR-1067; Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
Fujiwara T.; Sugawara T.; Mazaki-Miyazaki E.; Takahashi Y.; Fukushima K.; Watanabe M.; Hara K.; Morikawa T.; Yagi K.; Yamakawa K.; Inoue Y.;
Brain 126:531-546(2003)
Cited for: VARIANTS DRVT GLY-103; ILE-112; TRP-265; ASP-343; VAL-960; ILE-985; ARG-1231; LEU-1263; ASP-1685; 1807-MET--GLU-1810 DEL; GLY-1812 AND SER-1831; VARIANTS ICEGTC SER-808; ARG-979; ALA-983; ILE-1011; PHE-1611; SER-1632; ILE-1709 AND LEU-1808; VARIANT THR-1067; Sodium channels SCN1A, SCN2A and SCN3A in familial autism.
Weiss L.A.; Escayg A.; Kearney J.A.; Trudeau M.; MacDonald B.T.; Mori M.; Reichert J.; Buxbaum J.D.; Meisler M.H.;
Mol. Psychiatry 8:186-194(2003)
Cited for: VARIANTS GLN-542; THR-1034; LEU-1038; THR-1067 AND THR-1955; A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
Kimura K.; Sugawara T.; Mazaki-Miyazaki E.; Hoshino K.; Nomura Y.; Tateno A.; Hachimori K.; Yamakawa K.; Segawa M.;
Brain Dev. 27:424-430(2005)
Cited for: VARIANT DRVT ASN-1713; VARIANT THR-1067; Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population.
Lakhan R.; Kumari R.; Misra U.K.; Kalita J.; Pradhan S.; Mittal B.;
Br. J. Clin. Pharmacol. 68:214-220(2009)
Cited for: VARIANT THR-1067; Two novel mutations in SCN1A gene in Iranian patients with epilepsy.
Ebrahimi A.; Houshmand M.; Tonekaboni S.H.; Fallah Mahboob Passand M.S.; Zainali S.; Moghadasi M.;
Arch. Med. Res. 41:207-214(2010)
Cited for: VARIANT THR-1067;

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.