Table 5.

Final phenotype case classification by specific known predictive mutation locations and general mutation effect information

Reading Frame Effect and Mutation Type	Affected Exon(s)	Phenotype Prediction	N	Actual Mutation	MD STARnet Phenotype			Reference
					DMD	BMD	NC
Frameshift
Deletion	<8	BMD	6	Multiexon	100%	0%	0%	[2, 5, 6, 56]
Deletion	3–7	Variable	13	3–7	69%	31%	0%	[43]
Duplication	2	DMD Only	8	2	88%	0%	12%	[5]
Deletion/Duplication	Flanking 44	BMD	85	Single Exon	84%	4%	12%	[41, 42, 56]
				Multiexon	88%	8%	3%
Deletion	52	DMD	9	52	100%	0%	0%
Remaining Deletions/	All other	DMD	59	Single Exon	93%	2%	5%
Duplications			237	Multiexon	97%	0%	3%
In-Frame
Deletion/Duplication	Inclusive of	DMD	9	Multiexon	100%	0%	0%	[56]
	exons 64–70
	or exons
	2–10 & 32–45
Deletion	<11	BMD		Single Exon
			1	3	100%	0%	0%	[56]
				Multiexon
			2	2–7	0%	100%	0%
			4	3–4	0%	100%	0%
			1	3–5	100%	0%	0%
			1	3–8	0%	100%	0%
Deletion	45–55	BMD	5	45–55	0%	80%	20%	[56]
Deletion	45–47	BMD	16	45–47	0%	100%	0%	[58]
Deletion	48	BMD	1	48	0%	100%	0%
Deletion	10–40	BMD	1	10–42	100%	0%	0%	[56]
Remaining Deletions/	All other	BMD	3	42; 47; 64	100%	0%	0%
Duplications			13	3–13; 3–20; 3–30;	100%	0%	0%
				4–16; 4–48; 10–16;
				13–44; 20–21; 21–29;
				30–44; 45–46; 50–51;
				52–57
			2	3–15	100%	0%	0%
			2	3–24; 56–60	0%	0%	100%
			6	3–29; 6–18; 8–21;	0%	100%	0%
				38–48; 43–51; 52–55
				8–19
			3	17–44	100%	0%	0%
			2	19–20	50%	50%	0%
			3	45–48	100%	0%	0%
			15	45–49	7%	73%	20%
			9	45–53	0%	89%	11%
			7	45–55	29%	71%	0%
			2	47–51	0%	50%	50%
			2	48–51	100%	0%	0%
			5	50–55	60%	40%	0%
			4	51–52	100%	0%	0%
			4	52–53	75%	0%	25%
			2		100%	0%	0%
All Other mutations in database
Remaining Deletions/	Includes 1 & 79	UNK	5	Single Exon	80%	20%	0%
Duplications			9	Multiexon	67%	11%	22%
Point Mutations	Any	DMD	100	Nonsense	94%	3%	3%
		BMD	5	Missense	60%	20%	20%
		UNK	3	Unknown	67%	33%	0%
Unknown mutation type & effect	UNK	UNK	6		83%	0%	17%

BMD – Becker muscular dystrophy, DMD – Duchenne muscular dystrophy; NC – Not classifiable; UNK – Unknown.