Table 2.

Mutations detected in Mexican patients with recessive dRTA

Patient	Gene	Status	Nucleotidea	Protein	Exon/Intron	Reference	Nucleotide*	Protein	Exon/Intron	Reference
I	ATP6V0A4	Compound heterozygous	c.154_157del	p. Val52Metfs*25	3	This study	c.2011‐?_2523+?delb	p.?	18–21	This study
II	ATP6V0A4	Compound heterozygous	c.580C>T	p.Arg194Ter	7	Stover et al. (2002)	c.1231G>T	p.Asp411Tyr	12	Pereira et al. 2015
III	ATP6V0A4	Homozygous	c.1231G>T	p.Asp411Tyr	12	Barros‐Pereira et al. (2015)	c.1231G>T	p.Asp411Tyr	12	Pereira et al. 2015
IV	ATP6V0A4	Homozygous	c.1231G>T	p.Asp411Tyr	12	Barros‐Pereira et al. (2015)	c.1231G>T	p.Asp411Tyr	12	Pereira et al. 2015
V	ATP6V0A4	Compound heterozygous	c.1231G>T	p.Asp411Tyr	12	Barros‐Pereira et al. (2015)	c.1691+2dup	p.?	15	Stover et al. 2002
VI	ATP6V0A4	Homozygous	c.2227C>T	p.Arg743Trp	19	This study	c.2227C>T	p.Arg743Trp	19	This study
VII	ATP6V1B1	Homozygous	c.445+1G>Cc	p.?	5	This study	c.445+1G>Cc	p.?	5	This study
VIII	ATP6V1B1	Homozygous	c.1155dup	p.Ile386Hisfs*56	12	Stover et al. (2002)	c.1155dup	p.Ile386Hisfs*56	12	Stover et al. 2002
IX	ATP6V1B1	Homozygous	c.1037C>G	p.Pro346Arg	10	Karet et al. (1999a, 1999b)	c.1037C>G	p.Pro346Arg	10	Karet et al. 1999a, 1999b

^aNucleotides numbered according to the sequence in GenBank NM_130841 for ATP6V0A4 and NM_001692 for ATP6V1B1. The A of the ATG of the Methionine initiation codon is defined as nucleotide 1. Mutations are described following version 2.0 HGVS recommendations ( http://hgvs.org/mutnomen/).

^bDeletion of exons 18 to 21.

^cSplice site score is abolished.

?, is the nomenclature used for splicing mutation when the consequence on protein is unknown.