UniProtKB/Swiss-Prot Q14524 : Variant p.Tyr1977Asn
Sodium channel protein type 5 subunit alpha
Gene: SCN5A
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Variant information
Variant position:
1977
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
US
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 Tyrosine (Y) to Asparagine (N) at position 1977 (Y1977N, p.Tyr1977Asn).
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 aromatic (Y) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-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:
In LQT3; uncertain significance.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
1977
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
2016
The length of the canonical sequence.
Location on the sequence:
SRPLGPPSSSSISSTSFPPS
Y DSVTRATSDNLQVRGSDYSH
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 SRPLGPPSSSSISSTSFPPSY DSVTRATSDNLQVRGSDYSH
Mouse SRRSGPLSSSSISSTSFPPSY DSVTRATSDNLPVRASDYSR
Rat SRRSAPLSSSSISSTSFPPSY DSVTRATSDNLPVRASDYSR
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 – 2016
Sodium channel protein type 5 subunit alpha
Topological domain
1772 – 2016
Cytoplasmic
Region
1959 – 2016
Disordered
Region
1974 – 1977
Interaction with NEDD4, NEDD4L and WWP2
Compositional bias
1959 – 1994
Polar residues
Mutagenesis
1974 – 1974
P -> A. Strongly reduces interaction with NEDD4, NEDD4L or WWP2.
Mutagenesis
1975 – 1975
P -> A. Strongly reduces interaction with NEDD4, NEDD4L or WWP2.
Mutagenesis
1976 – 1976
S -> A. Strongly reduces interaction with NEDD4, NEDD4L or WWP2.
Mutagenesis
1977 – 1977
Y -> A. Strongly reduces interaction with NEDD4, NEDD4L or WWP2.
Mutagenesis
1978 – 1978
D -> A. No effect on interaction with NEDD4, NEDD4L or WWP2.
Mutagenesis
1979 – 1979
S -> A. No effect on interaction with NEDD4, NEDD4L or WWP2.
Mutagenesis
1980 – 1980
V -> A. No effect on interaction with NEDD4, NEDD4L or WWP2.
Mutagenesis
1980 – 1980
V -> DR. Strongly reduces interaction with NEDD4L.
Literature citations
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger J.D.; Tester D.J.; Salisbury B.A.; Carr J.L.; Harris-Kerr C.; Pollevick G.D.; Wilde A.A.; Ackerman M.J.;
Heart Rhythm 6:1297-1303(2009)
Cited for: VARIANTS LQT3 GLN-18; HIS-27; GLY-30; GLN-43; LYS-48; SER-52; GLN-53; GLY-104; GLY-115; LEU-125; PRO-212; GLN-222; TRP-225; MET-240; LEU-247; LYS-275; SER-289; TRP-340; CYS-367; MET-370; THR-397; LYS-406; VAL-409; MET-411; GLU-429 DEL; ALA-462; VAL-530; GLN-535; TRP-569; ILE-571; SER-572; VAL-572; 586-ALA-LEU-587 DEL; GLU-615; ARG-639; LYS-654; PRO-673; CYS-689; LEU-701; ILE-731; ARG-750; ASN-772; TYR-816; PHE-848; LYS-960; LEU-965; PHE-981; SER-997; ARG-1004; LYS-1053; MET-1069; VAL-1100; ASN-1114; ASN-1166; SER-1199; ILE-1212 DEL; MET-1283; MET-1304; SER-1325; SER-1326; VAL-1334; VAL-1338; SER-1432; SER-1472; CYS-1473; GLU-1481; LEU-1487; ARG-1488; ASP-1489; ARG-1493; SER-1495; VAL-1498; VAL-1501; ASN-1505; ILE-1532; PHE-1560; MET-1593; SER-1594; ILE-1596; PHE-1617 DEL; GLN-1623; LEU-1623; HIS-1626; CYS-1644; PHE-1650; THR-1652; ASN-1723; TRP-1739; HIS-1761; PHE-1761; MET-1763; MET-1777; MET-1779; LYS-1784; CYS-1795; HIS-1826; GLY-1839; TRP-1897; GLN-1901; ASN-1977; VAL-2004 AND CYS-2012;
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.