Other mutations


type	name	phenotype	mutation	result	source
double	Salamanca, AA, JA	HRND	T128G and G130A	2 amino acids altered in E2	(Puig et al., 2001; Sege-Peterson et al., 1992; Torres et al., 2000)
double	Japan2	HRND	T536G and G538A	2 amino acids altered in E8	(Igarishi et al., 1989)
duplication	MW	LND	dup572-579ATGCCCTT	8 bp duplication	(Jinnah et al., 2000)
duplication	LN26	LND	duplication E2-E3	2 exons duplicated	(Jinnah et al., 2000)
duplication	GM 1622, DM	HRND	duplication E2-E3	2 exons duplicated with rare reversion	(Sege-Peterson et al., 1992; Yang et al., 1984; Yang et al., 1988)
duplication	HJ	HRND	duplication E7-8	2 exons duplicated	(Marcus et al., 1993b)
duplication	PJ	LND	duplication E7-8	2 exons duplicated	(Jinnah et al., 2000)
duplication	GM 6804	HRND	duplication I1	13.7 Kb duplicated with rare reversion	(Monnat et al., 1992; Wilson et al., 1986)
female	Paris	female LND	maternal X inactivated; paternal T459G stop mutati	both alleles dysfunctional	(Aral et al., 1996)
female	LN54, RM	female LND	mosaic paternal X inactivation; maternal IVS8+4A>G	both alleles dysfunctional	(Jinnah et al., 2000; Jinnah et al., 2005)
female	NS*	female LND	one X allele nonfunctional; C151T stop mutation	both alleles dysfunctional	(Yamada et al., 1994)
female	S	female LND	paternal X inactivated; maternal C508T stop mutati	both alleles dysfunctional	(De Gregorio et al., 2000)
female	FLN	female LND	paternal X inactivated; maternal gene deleted	both alleles dysfunctional	(Ogasawara et al., 1989)
female	NS	female LND	translocation interrupting on hprt gene with non-r	both alleles dysfunctional	(Rinat et al., 2005)
substitution	10/00	LND	329-332del CAAC; insTCT	3 bp substituted for 4 bp in E4	(Bertelli et al., 2004)
substitution	LN9	LND	398-402delTGGAA; insG	5 bp replaced with 1 bp in E5	(Jinnah et al., 2000)
substitution	RJK 1210, LN40-4, GB	LND	428-432delTGCAG, insAGCAAA	6 bp substituted for 5 bp in E6	(Gibbs et al., 1989; Jinnah et al., 2005)