The UMD-MYO7A mutations database
Ala to Deletion mutations

Variation type	Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg336X	c.1005_1012del	9-10	335	Motor domain		Small rearrangement	Fr.	Stop at 336	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 247 FR0132006371 Male Homozygous SENEGAL Usher 25
p.Ala886_Lys888del	c.2656_2664del	22	886	Coiled coil		Small rearrangement	InF	In frame del	8
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 367 JP0100100012 Unknown Heterozygous JAPAN Deafness 5 368 JP0100100022 Unknown Heterozygous JAPAN Deafness 5 369 JP0100100032 Unknown Heterozygous JAPAN Deafness 5 370 JP0100100042 Unknown Heterozygous JAPAN Deafness 5 371 JP0100100052 Unknown Heterozygous JAPAN Deafness 5 372 JP0100100062 Unknown Heterozygous JAPAN Deafness 5 373 JP0100100072 Unknown Heterozygous JAPAN Deafness 5 374 JP0100100082 Unknown Heterozygous JAPAN Deafness 5
p.Ala1089ProfsX19	c.3265delG	25	1089			Small rearrangement	Fr.	Stop at 1107	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 439 YE0100100011 Male Heterozygous YEMEN Usher 14
p.Ala2009ProfsX32	c.6025delG	44	2009	FERM 2		Small rearrangement	Fr.	Stop at 2040	12
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 465 US0200522162 Unknown Heterozygous U.K. Usher 15 466 US0201822192 Unknown Heterozygous U.K. Usher 15 475 SP0117000010 Female Homozygous SPAIN Usher 17 476 SP0101400012 Unknown Heterozygous SPAIN Usher 17 520 FR0300108212 Heterozygous FRANCE Usher 32 579 FR0138609240 Female Heterozygous FRANCE Usher 25 861 SP01126900010 Female Heterozygous ITALIA Usher 30 923 FR0400500012 Unknown Homozygous FRANCE Usher 33 941 FR0401000012 Unknown Heterozygous FRANCE Usher 33 945 FR0157014970 Female Heterozygous FRANCE Usher 1 1838 SP01161400012 Heterozygous SPAIN Usher 44 1861 FR0175020570 Female Heterozygous FRANCE Usher 1