UniProtKB/SwissProt variant VAR

Variant information

Variant position:

514

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

Type of variant:

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:

From Glycine (G) to Cysteine (C) at position 514 (G514C, p.Gly514Cys).

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 glycine (G) to medium size and polar (C)

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 BRGDA1 and PFHB1A.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs137854606 [ dbSNP | Ensembl ]

Sequence information

Variant position:

514

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:

LPKSDSEDGPRAMNHLSLTR G LSRTSMKPRSSRGSIFTFRR

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                         LPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRR

Mouse                         LPKSDSEDGPRALNQLSLTHGLSRTSMRPRSSRGSIFTFRR

Rat                           LPKSDSEDGPRALNQLSLTHGLSRTSMRPRSSRGSIFTFRR

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	411 – 717	Cytoplasmic
Region	461 – 591	Disordered
Compositional bias	511 – 526	Polar residues
Modified residue	497 – 497	Phosphoserine
Modified residue	510 – 510	Phosphoserine
Modified residue	513 – 513	Dimethylated arginine; alternate
Modified residue	513 – 513	Omega-N-methylarginine; alternate
Modified residue	526 – 526	Dimethylated arginine; alternate
Modified residue	526 – 526	Omega-N-methylarginine; alternate

Literature citations

A sodium-channel mutation causes isolated cardiac conduction disease.
Tan H.L.; Bink-Boelkens M.T.E.; Bezzina C.R.; Viswanathan P.C.; Beaufort-Krol G.C.M.; van Tintelen P.J.; van den Berg M.P.; Wilde A.A.M.; Balser J.R.;
Nature 409:1043-1047(2001)
Cited for: CHARACTERIZATION OF VARIANT PFHB1A CYS-514;

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
Meregalli P.G.; Tan H.L.; Probst V.; Koopmann T.T.; Tanck M.W.; Bhuiyan Z.A.; Sacher F.; Kyndt F.; Schott J.-J.; Albuisson J.; Mabo P.; Bezzina C.R.; Le Marec H.; Wilde A.A.M.;
Heart Rhythm 6:341-348(2009)
Cited for: VARIANTS BRGDA1 LYS-161; CYS-367; HIS-367; CYS-514; ARG-752; TRP-1232; ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714; ARG-1740; GLU-1743 AND THR-1924; VARIANTS PFHB1A LYS-161; CYS-367; HIS-367; CYS-514; ARG-752; TRP-1232; ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714; ARG-1740; GLU-1743 AND THR-1924;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14524: Variant p.Gly514Cys