|
rs121912744
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We investigated the properties of four dRTA-associated AE1 mutations (R589H, G609R, S613F, and G701D) by heterologous expression in Xenopus laevis oocytes.
|
18524859 |
2008 |
|
rs121912744
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We compared the effect of two dominant (R589H and S613F) and two recessive (S773P and G701D) dRTA point mutations on kAE1 trafficking in Madin-Darby canine kidney (MDCK) epithelial cells.
|
16420521 |
2006 |
|
rs121912744
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The absence of detectable AE1 polypeptide in those intercalated cells supports the genetic prediction that the AE1 R589H mutation indeed causes dominant dRTA.
|
14736961 |
2004 |
|
rs121912744
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Three different mutations at this position (R589C, R589H, and R589S) were all found in AD dRTA and a de novo R589H mutation has previously been recorded.
|
12750988 |
2003 |
|
rs121912744
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Thus, in contrast to previously described heterozygous loss-of-function mutations in AE1 associated with red cell abnormalities and apparently normal renal acidification, the heterozygous hypomorphic AE1 mutation R589H is associated with dominant dRTA and normal red cells.
|
9497368 |
1998 |
|
rs121912744
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121912751
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Thus impaired trafficking of the kAE1 G701D and A858D mutants would lead to a profound decrease in functional kAE1 at the basolateral membrane of alpha-intercalated cells in the distal nephron of the patients with dRTA.
|
20151848 |
2010 |
|
rs121912751
|
|
|
0.740 |
GeneticVariation |
BEFREE |
We report here two unrelated Indian patients with combined hemolytic anemia and dRTA who share homozygous A858D mutations of the AE1/SLC4A1 gene.
|
20799361 |
2010 |
|
rs121912751
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Genetic and hematological studies in 18 Thai patients with dRTA have shown that 12 of them (67%) carried SLC4A1 mutations (7 G701D/G701D, 3 SAO/G701D, and 2 G701D/A858D).
|
18266205 |
2008 |
|
rs121912751
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Individuals heterozygous with wild-type (WT) kAE1 either did not display any symptoms of dRTA (DeltaV850/WT) or displayed a mild incomplete form of dRTA (A858D/WT), while compound heterozygotes (DeltaV850/A858D) had dRTA.
|
16849697 |
2006 |
|
rs121912751
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs878853002
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here, we present kidney tissues from dRTA-affected siblings heterozygous for kAE1 G609R, characterized by predominant absence rather than mistargeting of kAE1 in intercalated cells.
|
28638614 |
2017 |
|
rs121912746
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We compared the effect of two dominant (R589H and S613F) and two recessive (S773P and G701D) dRTA point mutations on kAE1 trafficking in Madin-Darby canine kidney (MDCK) epithelial cells.
|
16420521 |
2006 |
|
rs121912745
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Three different mutations at this position (R589C, R589H, and R589S) were all found in AD dRTA and a de novo R589H mutation has previously been recorded.
|
12750988 |
2003 |
|
rs121912745
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121912745
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121912746
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs878853002
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs121912748
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Thus impaired trafficking of the kAE1 G701D and A858D mutants would lead to a profound decrease in functional kAE1 at the basolateral membrane of alpha-intercalated cells in the distal nephron of the patients with dRTA.
|
20151848 |
2010 |
|
rs121912748
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have found an important and unusual exception: a novel combination of heterozygous E522K and G701D mutations in the anion exchanger 1 manifested as complete distal renal tubular acidosis and severe hereditary spherocytosis in an affected patient.
|
19625994 |
2009 |
|
rs121912748
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Recently, we described a cation leak property in four dRTA-causing AE1 mutants, three autosomal dominant (AD) European mutants, one autosomal recessive (AR) from Southeast Asia, G701D.
|
19289107 |
2009 |
|
rs121912748
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Genetic and hematological studies in 18 Thai patients with dRTA have shown that 12 of them (67%) carried SLC4A1 mutations (7 G701D/G701D, 3 SAO/G701D, and 2 G701D/A858D).
|
18266205 |
2008 |
|
rs121912748
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Compound heterozygous anion exchanger 1 (AE1) SAO/G701D mutations result in distal renal tubular acidosis with Southeast Asian ovalocytosis.
|
17027918 |
2006 |
|
rs121912748
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Therefore, compound heterozygous patients expressing both recessive mutants (G701D/S773P) likely developed dRTA due to the lack of a functional kAE1 at the basolateral surface of alpha-intercalated cells.
|
16420521 |
2006 |
|
rs121912748
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The biosynthesis and trafficking of kAE1 containing a novel recessive missense dRTA mutation (kAE1 S773P) was studied in transiently transfected HEK-293 cells, expressing the mutant alone or in combination with wild-type kAE1 or another recessive mutant, kAE1 G701D.
|
15252044 |
2004 |