UniProtKB/Swiss-Prot Q8N335: Variant p.Ala280Val

Glycerol-3-phosphate dehydrogenase 1-like protein
Gene: GPD1L
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Variant information Variant position:

280 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 Alanine (A) to Valine (V) at position 280 (A280V, p.Ala280Val). 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 hydrophobic (V) 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
Variant description:

In BRGDA2; uncertain significance; decreased enzymatic activity; affects SCN5A membrane expression; reduction of sodium current when coexpressed with SCN5A in HEK cells. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs72552291 [ dbSNP | Ensembl ]

Sequence information Variant position:

280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

351 The length of the canonical sequence.
Location on the sequence:

VADLITTCYGGRNRRVAEAF A RTGKTIEELEKEMLNGQKLQ 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                         VADLITTCYGGRNRRVAEAFARTGKTIEELEKEMLNGQKLQ

Mouse                         VADLITTCYGGRNRRVAEAFARTGKTIEELEKELLNGQKLQ

Xenopus laevis                VADLITTCYGGRNRKVAEAFVKTGKSIEELEKEMLNGQKLQ

Xenopus tropicalis            VADLITTCYGGRNRKVSEAFVKSGKSIEELEKEMLNGQKLQ

Zebrafish                     VADLITTCYGGRNRRVAEAFAKTGKSIEELEKEMLNGQKLQ

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 – 351	Glycerol-3-phosphate dehydrogenase 1-like protein
Binding site	271 – 271
Binding site	298 – 298
Binding site	300 – 300
Helix	271 – 282

Literature citations
GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.
Valdivia C.R.; Ueda K.; Ackerman M.J.; Makielski J.C.;
Am. J. Physiol. 297:H1446-H1452(2009)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS BRGDA2 LYS-83 AND VAL-280; INTERACTION WITH SCN5A; CATALYTIC ACTIVITY; Cardiac Na+ current regulation by pyridine nucleotides.
Liu M.; Sanyal S.; Gao G.; Gurung I.S.; Zhu X.; Gaconnet G.; Kerchner L.J.; Shang L.L.; Huang C.L.; Grace A.; London B.; Dudley S.C. Jr.;
Circ. Res. 105:737-745(2009)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT BRGDA2 VAL-280; Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.
London B.; Michalec M.; Mehdi H.; Zhu X.; Kerchner L.; Sanyal S.; Viswanathan P.C.; Pfahnl A.E.; Shang L.L.; Madhusudanan M.; Baty C.J.; Lagana S.; Aleong R.; Gutmann R.; Ackerman M.J.; McNamara D.M.; Weiss R.; Dudley S.C. Jr.;
Circulation 116:2260-2268(2007)
Cited for: TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANT BRGDA2 VAL-280; CHARACTERIZATION OF VARIANT BRGDA2 VAL-280;

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.