Table 1.

Function and intracellular localization of ABCC6 variants.

ABCC6 variant	Stability in Sf9	MgATP-binding	ATPase catalytic intermediate	Transport activity (% of WT)	Plasma membrane localization in MDCKII cells	Plasma membrane localization in mouse liver	Intracellular localization in mouse liver
WT	Stable	Yes	Yes	100	+++++	+++++	-
DABCC6	Stable	n.d.	n.d.	<10	-	-	+++++
R1138Q	Stable	Yes	Yes	~85	++++	++	+++
V1298F	Stable	Yes	No	<10	+++++	+++++	-
G1321S	Stable	Yes	No	<10	-	-	+++++
R1314W	Stable	Yes	Yes	~90	-	+	++++ (ER)
R1339C	Unstable	n.a.	n.a.	n.a.	-	-	+++++

n.d., not determined; n.a., not applicable; ER, mostly retained with the endoplasmic reticulum.

The symbol “+” represents semiquantitative estimate of the presence of immunohistochemical signal in the given compartment (+++++ is maximal abundance).

The symbol “-” represents absence of immunohistochemical signal in the given compartment.