The UMD-TREAT_DMD mutations database
Leu to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu229X	c.686T>G	8	229	Actin binding domain		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16493 TNMD-US#1273 M US 0 16491 TNMD-US#1271 M US 0
p.Leu322X	c.965T>A	10	322	CRD-hinge region #1		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2492 TNMD_FR#F750882012 M FR 0
p.Leu445X	c.1334T>G	12	445	CRD-repeat #1		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1011 TNMD_CH#54 M CH 0
p.Leu606X	c.1817T>G	16	606	CRD-repeat #3		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2736 TNMD_FR#F757722011 M FR 0
p.Leu654X	c.1961T>G	16	654	CRD-repeat #3		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13950 TNMD_PL#PL/2003-10-27/DMD/216 M PL 0
p.Leu759X	c.2276T>A	18	759	CRD-repeat #4		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1121 TNMD_CH#109 M CH 0
p.Leu853X	c.2558T>A	20	853	CRD-repeat #5		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2940 TNMD_FR#F3423914111 M FR 0
p.Leu890X	c.2669T>G	21	890	CRD-repeat #5		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17025 TNMD-US#2371 M US 0
p.Leu1674X	c.5021T>A	35	1674	CRD-repeat #12		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13561 NL#D290 M NL 0
p.Leu1720X	c.5159T>G	37	1720	CRD-repeat #13		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 596 TNMD_CA_DM#100 M CA 0
p.Leu1752X	c.5255T>G	37	1752	CRD-repeat #13		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15235 TNMD_UK#99 M UK 0 15233 TNMD_UK#98 M UK 0
p.Leu2220X	c.6659T>A	46	2220	CRD-repeat #18		Small rearrangement	Tv	T->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9350 TNMD_DE#F060CAAB-CF5D-4C6 M DE 0 8432 TNMD_DE#4F3DDB2B-E2FA-4A9 M DE 0
p.Leu2220X	c.6659T>G	46	2220	CRD-repeat #18		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12044 TNMD_JP#20100611-02 M JP 0
p.Leu2337X	c.7010T>G	48	2337	CRD-repeat #19		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5812 TNMD_FR#F3418510931 M FR 0
p.Leu2579X	c.7736T>A	53	2579	CRD-repeat #21		Small rearrangement	Tv	T->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 6470 TNMD_FR#F3429716431 M FR 0
p.Leu2579X	c.7736T>G	53	2579	CRD-repeat #21		Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 1053 TNMD_CH#75 M CH 0