The UMD-TREAT_DMD mutations database
Ser to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ser147X	c.440C>A	6	147	Actin binding domain		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2124 TNMD_FR#F750660011 M FR 0
p.Ser147X	c.440C>G	6	147	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15903 TNMD-US#274 M US 0
p.Ser191X	c.572C>G	7	191	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2164 TNMD_FR#F3502103581 M FR 0
p.Ser234X	c.701C>A	8	234	Actin binding domain		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 18611 TNMD_AU#234 M AU 0 18609 TNMD_AU#233 M AU 0
p.Ser234X	c.701C>G	8	234	Actin binding domain		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12130 TNMD_JP#20100802-02 M JP 0
p.Ser319X	c.956C>G	9	319	CRD-hinge region #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2386 TNMD_FR#F3415909581 M FR 0
p.Ser329X	c.986C>G	10	329	CRD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2496 TNMD_FR#F750266011 M FR 0
p.Ser333X	c.998C>A	10	333	CRD		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2500 TNMD_FR#F752802111 M FR 0 2498 TNMD_FR#F752802011 M FR 0
p.Ser333X	c.998C>G	10	333	CRD		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 8760 TNMD_DE#8770C728-58CB-4B0 M DE 0
p.Ser413X	c.1238C>A	11	413	CRD-repeat #1		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2534 TNMD_FR#F6913700Z11 M FR 0
p.Ser429X	c.1286C>A	11	429	CRD-repeat #1		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17215 TNMD-US#2834 M US 0 15951 TNMD-US#349 M US 0
p.Ser429X	c.1286C>G	11	429	CRD-repeat #1		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2538 TNMD_FR#F757608011 M FR 0
p.Ser598X	c.1793C>G	15	598	CRD-repeat #3		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16667 TNMD-US#1652 M US 0
p.Ser675X	c.2024C>G	17	675	CRD-hinge region #2		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13944 TNMD_PL#PL/2006-01-18/DMD/187 M PL 0
p.Ser757X	c.2270C>G	18	757	CRD-repeat #4		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7721 TNMD_CN_HOSP#159 M CN 0 12994 TNMD_JP#20121022-01 M JP 0
p.Ser958X	c.2873C>G	22	958	CRD-repeat #6		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17055 TNMD-US#2409 M US 0
p.Ser1020X	c.3059C>G	23	1020	CRD-repeat #6		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13489 NL#D244 M NL 0
p.Ser1167X	c.3500C>G	26	1167	CRD-repeat #8		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 11322 TNMD_JP#20090914-05 M JP 0
p.Ser1500X	c.4499C>A	32	1500	CRD-repeat #11		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9928 TNMD_HK#62 M HK 0
p.Ser1705X	c.5114C>G	36	1705	CRD-repeat #13		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 17247 TNMD-US#3231 M US 0
p.Ser1788X	c.5363C>G	38	1788	CRD-repeat #14		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9334 TNMD_DE#EB340904-4B50-40F M DE 0 16091 TNMD-US#571 M US 0
p.Ser2605X	c.7814C>G	53	2605	CRD-repeat #21		Small rearrangement	Tv	C->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 16081 TNMD-US#553 M US 0
p.Ser3365X	c.10094C>G	70	3365	Carboxy-terminal region		Small rearrangement	Tv	C->G	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13309 NL#D082 M NL 0 15045 TNMD_UK#3 M UK 0
p.Ser3637X	c.10910C>A	76	3637	Carboxy-terminal region		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 7050 TNMD_FR#F756651111 M FR 0 7048 TNMD_FR#F756651011 M FR 0