Diabetic Dead-in-Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy

Table 1

In  silico analysis of GPD1L gene* mutation.

Protein prediction programmes								Splice site prediction programmes
PolyPhen-2^a,**	Mutation; Taster^b	Mutation; Assessor^c	I-MUTANT 3.0^d	MutPred^e	SNPs and GO^f	SIFT^g	SNAP^h	ASSP^i; Neural Network^j; ESE^k	HSF^l
Benign; (scores: 0.000; 0.001)	Disease-causing; (𝑃: 0.999)	Neutral	Neutral; (RI: 5)	Deleterious; (Pdel: 0.89)	Neutral; (RI: 9)	Tolerated; (SR: 1.0)	Neutral; (RI: 2.0)	No effect	SRp55 site created; SRp40 site broken

∗Refseq transcript accession number NM_015141.3.3; Refseq protein accession number NP_055956.1; uniprot accession number Q8N335.
∗∗Scores relate to predictions based on HumDiv and HumVar models.
ahttp://genetics.bwh.harvard.edu/pph2/.
bhttp://www.mutationtaster.org/;  𝑃 refers to the probability value, which is the probability of the prediction.
chttp://mutationassessor.org/.
dhttp://gpcr2.biocomp.unibo.it/cgi/predictors/I-Mutant3.0/I-Mutant3.0.cgi; RI refers to reliability index.
ehttp://mutpred.mutdb.org/; Pdel refers to the probability that the variant is a deleterious mutation.
fhttp://snps-and-go.biocomp.unibo.it/snps-and-go/; RI refers to reliability index.
ghttp://sift.jcvi.org/www/SIFT_BLink_submit.html; SR refers to a SeqRep value that corresponds to the fraction of sequences that contain one of the basic amino acids. A low fraction indicates the position is either severely gapped or unalignable and has little information, so it offers poor predictive capability. 𝑃  refers to the scaled probability that the amino acid change is deleterious (a value less than 0.05 is predicted to be deleterious).
hhttps://rostlab.org/services/snap/submit; RI refers to reliability index.
ihttp://wangcomputing.com/assp/index.html.
jhttp://www.fruitfly.org/seq_tools/splice.html.
khttp://rulai.cshl.edu/cgi-bin/tools/ESE3/esefinder.cgi; screened for human U2-type splice donor and acceptor sites above default thresholds.
lhttp://www.umd.be/HSF/.