Table 1. This table contains all... | Rockefeller University Press

Table 1.

This table contains all currently known disease-associated Orai1 mutations

Mutation	Reference	Functional effect	Disease	Location
E69X	Baskar et al. (2024)	LoF	SCID	N terminus
A88SfsX25	McCarl et al. (2009)	LoF	SCID	TM1
R91W	Feske et al. (2006)	LoF	SCID
S97C	Garibaldi et al. (2017)	GoF	TAM
G98R	Lian et al. (2018)	LoF	SCID
G98S	Böhm et al. (2017)	GoF	TAM and STRMK spectrum
A103E	McCarl et al. (2009)	LoF	SCID
V107M	Böhm et al. (2017)	GoF (facilitated by STIM1 activation)	TAM and STRMK spectrum
C126R	Yu et al. (2021)	LoF	SCID	TM2
L138F	Böhm et al. (2017)	GoF	TAM	TM2
I148S	Klemann et al. (2017)	LoF	SCID and HLH	Loop 2
H165PfsX1	Chou et al. (2015) and Lacruz and Feske (2015)	LoF	SCID	Loop 2
V181SfsX8	Lian et al. (2018)	LoF	SCID	TM3
T184M	Böhm et al. (2017)	GoF (only with STIM1)	TAM
L194P	Lian et al. (2018)	LoF	SCID
H134P/L194P	Noyer et al. (2025)	GoF/LoF	SCID and HLH	TM2 + TM3
P245L	Nesin et al. (2014) and Palty et al. (2015)	GoF (altered CDI)	TAM and STRMK spectrum	TM4
R270X	Badran et al. (2016)	LoF	SCID	C terminus

Mutation	Reference	Functional effect	Disease	Location
E69X	Baskar et al. (2024)	LoF	SCID	N terminus
A88SfsX25	McCarl et al. (2009)	LoF	SCID	TM1
R91W	Feske et al. (2006)	LoF	SCID
S97C	Garibaldi et al. (2017)	GoF	TAM
G98R	Lian et al. (2018)	LoF	SCID
G98S	Böhm et al. (2017)	GoF	TAM and STRMK spectrum
A103E	McCarl et al. (2009)	LoF	SCID
V107M	Böhm et al. (2017)	GoF (facilitated by STIM1 activation)	TAM and STRMK spectrum
C126R	Yu et al. (2021)	LoF	SCID	TM2
L138F	Böhm et al. (2017)	GoF	TAM	TM2
I148S	Klemann et al. (2017)	LoF	SCID and HLH	Loop 2
H165PfsX1	Chou et al. (2015) and Lacruz and Feske (2015)	LoF	SCID	Loop 2
V181SfsX8	Lian et al. (2018)	LoF	SCID	TM3
T184M	Böhm et al. (2017)	GoF (only with STIM1)	TAM
L194P	Lian et al. (2018)	LoF	SCID
H134P/L194P	Noyer et al. (2025)	GoF/LoF	SCID and HLH	TM2 + TM3
P245L	Nesin et al. (2014) and Palty et al. (2015)	GoF (altered CDI)	TAM and STRMK spectrum	TM4
R270X	Badran et al. (2016)	LoF	SCID	C terminus

For each mutation, the first report is listed, as well as its functional impact on the protein. Further, the associated diseases are matched to the mutations. Lastly, the location of the mutations in the Orai1 domains is described.

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