Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution

Table 3 Searches of general and locus-specific databases

Database	Mutation found					CMC to find or [not find]					Time to find or [not find] (min)					Phenotype found					Detailed phenotype^b
	1^d	2	3	4	5	1	2	3	4	5	1	2	3	4	5	1	2	3	4	5	1	2	3	4	5
HGMD	+	+	+^a	+	+	5	5	5^a	5	5	6.15	3.27	8.95^a	1.55	1.35	+	+	+^a	+	+	-	-	-	-	-
OMIM	-	-	+	-	-	[15]	[17]	8	[19]	[15]	[7.73]	[7.03]	1.50	[6.03]	[5.88]	-	-	+	-	-	-	-	-	-	-
dbSNP	-	-	-	-	-	[18]	[18]	[25]	[15]	[12]	[10.80]	[11.57]	[11.57]	[11.56]	[4.48]	-	-	-	-	-	-	-	-	-	-
MutDB	+	+	+	+	+	4	4	4	4	4	6.50	2.90	1.58	1.15	0.98	+	+	+	+	+	+	+	+	+	+
MutView	-	-	-	-	-	[9]	[5]	[5]	[9]	[9]	[4.48]	[1.32]	[1.32]	[4.78]	[4.90]	-	-	-	-	-	-	-	-	-	-
GeneCards	-	-	-	-^c	-	[19]	[16]	[15]	[15]	[14]	[9.57]	[9.62]	[8.68]	[8.02]	[8.07]	-	-	-	-	-	-	-	-	-	-
GeneRev	-	-	-	-	-	[15]	[4]	[4]	[4]	[4]	[13.00]	[3.48]	[3.48]	[2.70]	[2.70]	-	-	-	-	-	-	-	-	-	-
dbGaP	-	-	-	-	-	[3]	[3]	[3]	[2]	[2]	[1.11]	[1.10]	[1.10]	[0.98]	[0.98]	-	-	-		-	-	-	-	-	-
UniProt	+	+	+	+	+	3	3	3	3	3	1.18	1.00	0.75	1.03	0.80	+	+	+	+	+	+	+	+	+	+
Ensembl	-	+	+	+	-	[27]	6	6	6	[24]	[15.50]	5.95	4.75	2.75	[12.50]	-	-	-	-	-	-	-	-	-	-
GDB (NO)
DGV	-	-	-	-	-	[3]	[3]	[3]	[3]	[3]	[2.75]	[1.07]	[1.07]	[1.07]	[1.82]	-	-	-	-	-	-	-	-	-	-
PAHdb-- Table 2	+					2					1.15					-					-
InSiGHT		+	+				10	4				10.85	1.98				+	+				+	+
BIC				+	+				5	5				1.00	0.92				+	+				+	+

^aWrongly numbered as 617.
^bDefined as being appropriate additional information (eg impact on severity of disease).
^cMutation found using D/H format. Wrongly numbered as 2722. No phenotype data.
^dMutations 1-5.
Abbreviation: NO, not operational.

ISSN: 1479-7364