The UMD-DMD mutations database
Lys to Deletion mutations

Variation type	Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Lys18ArgfsX8	c.53delA	2	18	Actin binding domain		Small rearrangement	Fr.	Stop at 25	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2662 F3451225221 Male Hemizygous FRANCE 106
p.Gly67AspfsX8	c.198delA	4	66	Actin binding domain		Small rearrangement	Fr.	Stop at 74	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2382 F3430216611 Male Hemizygous FRANCE 106
p.Lys226del	c.676_678delAAG	8	226	Actin binding domain		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1363 F757463011 Male Hemizygous - 1 2108 F759379011 Male Hemizygous SPAIN 1
p.Lys591CysfsX11	c.1771_1786del	15	591	CRD-repeat #3		Small rearrangement	Fr.	Stop at 601	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3517 F759819011 Male Hemizygous FRANCE 1
p.Lys602AsnfsX5	c.1806delA	15	602	CRD-repeat #3		Small rearrangement	Fr.	Stop at 606	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2659 F3449924451 Male Hemizygous FRANCE 106
p.Lys660GlufsX59	c.1978_1979delAA	16	660	CRD-repeat #3		Small rearrangement	Fr.	Stop at 718	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2623 F3443323361 Male Hemizygous FRANCE 106 989 F758410011 Male Hemizygous - 1
p.Lys1004ArgfsX9	c.3011_3012delAA	23	1004	CRD-repeat #6		Small rearrangement	Fr.	Stop at 1012	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3270 F759263011 Male Hemizygous FRANCE 1
p.Lys1086SerfsX3	c.3257delA	24	1086	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1088	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 957 F750492011 Male Hemizygous - 10
p.Lys1116MetfsX36	c.3347_3350delAGAA	25	1116	CRD-repeat #7		Small rearrangement	Fr.	Stop at 1151	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2669 F3506800901 Male Hemizygous FRANCE 110
p.Lys1288AsnfsX19	c.3864delA	28	1288	CRD-repeat #9		Small rearrangement	Fr.	Stop at 1306	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1449 F3421412721 Male Hemizygous FRANCE 100
p.Glu1620ArgfsX9	c.4857delA	35	1619	CRD-repeat #12		Small rearrangement	Fr.	Stop at 1628	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1451 F3422013691 Male Hemizygous FRANCE 105
p.Glu1714LysfsX7	c.5139delA	36	1713	CRD-repeat #13		Small rearrangement	Fr.	Stop at 1720	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1454 F3425814841 Male Hemizygous FRANCE 100
p.Lys1899AsnfsX2	c.5697delA	40	1899	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1900	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2289 F69181836m1 Male Hemizygous FRANCE 114
p.Lys1923GlyfsX7	c.5766_5770delGAAAG	41	1922	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1929	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 647 F750746011 Male Hemizygous - 10
p.Lys1923ArgfsX3	c.5768_5771delAAGA	41	1923	CRD-repeat #15		Small rearrangement	Fr.	Stop at 1925	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2918 F759378011 Male Hemizygous SPAIN 1
p.Lys2268AsnfsX2	c.6804_6807delACAA	47	2268	CRD-repeat #18		Small rearrangement	Fr.	Stop at 2269	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 3156 F750791011 Male Hemizygous - 1
p.Lys2580ArgfsX17	c.7739delA	53	2580	CRD-repeat #21		Small rearrangement	Fr.	Stop at 2596	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2811 F757564011 Male Hemizygous FRANCE 10 2967 F757564011 Male Hemizygous FRANCE 10
p.Lys2792ValfsX5	c.8374_8375delAA	56	2792	CRD-repeat #22		Small rearrangement	Fr.	Stop at 2796	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2265 F69120122MA1 Male Hemizygous FRANCE 114
p.Lys3111AsnfsX14	c.9333delA	64	3111	CRD-hinge region #4		Small rearrangement	Fr.	Stop at 3124	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 2299 F69209068m1 Male Hemizygous FRANCE 114