Skip to main content
. Author manuscript; available in PMC: 2015 Aug 1.
Published in final edited form as: Pflugers Arch. 2014 Feb 11;466(8):1501–1516. doi: 10.1007/s00424-014-1448-8

Table 3.

1NBCe1-A Mutations Causing Proximal RTA

Mutation Location Classification Effect of Mutation
Q29X N-terminal region nonsense NBCe1-A protein truncation
R298S N-terminal region missense - mistargeting: apical/basolateral membranes
-abnormal interaction of the N- terminal region with the cytoplasmic region
S427L TM1 missense -mistargeting: predominant apical membrane
-abnormal helix packing
-decreased GHCO3
-impaired IHCO3 reversal at -Vm
T485S TM3 missense - altered ion interaction
- electroneutral transport
G486R TM3 missense altered ion interaction
R510H TM4 missense ER retention
W516X TM4 nonsense truncation: all NBCe1 variants
L522P TM4 missense ER retension
2311 delA IL4 frameshift truncation: all NBCe1 variants
A799V TM10 missense - intracellular retention
- decreased GHCO3
- bicarbonate-independent Gcation
R881C TM12 missense ER retention (ER)
65 bp-del C-terminal tail frameshift ER retention
1

Numbered according to NBCe1-A amino acid sequence

GHCO3: bicarbonate conductance ; Gcation: cation conductance; IHCO3: bicarbonate-dependent current; -Vm: negative plasma membrane voltages