chr4:2906707:G>T Detail (hg19) (ADD1)

Information

Genome

Assembly Position
hg19 chr4:2,906,707-2,906,707
hg38 chr4:2,904,980-2,904,980 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_014189.3:c.1378G>T NP_054908.2:p.Gly460Trp
NM_001119.4:c.1378G>T NP_001110.2:p.Gly460Trp
Ensemble ENST00000264758.11:c.1378G>T ENST00000264758.11:p.Gly460Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.567
ToMMo:0.545
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.476

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 102680 OMIM
HGNC 243 HGNC
Ensembl ENSG00000087274 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15847893 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 1999-02-01 no assertion criteria provided Hypertension, salt-sensitive essential, susceptibility to germline Detail
drug response 2021-03-24 reviewed by expert panel germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.321 Hypertensive disease In this study, 3 physiologically important candidate gene mutations (angiotensin... BeFree 10856280 Detail
0.239 Hypertensive disease In this study, 3 physiologically important candidate gene mutations (angiotensin... BeFree 10856280 Detail
0.440 Hypertensive disease In this study, 3 physiologically important candidate gene mutations (angiotensin... BeFree 10856280 Detail
0.003 gastroschisis In logistic regression, controlling for maternal ethnicity, and using the homozy... BeFree 17051589 Detail
0.003 gastroschisis In logistic regression, controlling for maternal ethnicity, and using the homozy... BeFree 17051589 Detail
0.003 gastroschisis In logistic regression, controlling for maternal ethnicity, and using the homozy... BeFree 17051589 Detail
0.003 gastroschisis In logistic regression, controlling for maternal ethnicity, and using the homozy... BeFree 17051589 Detail
0.321 Hypertensive disease The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphi... BeFree 15097233 Detail
0.143 Hypertensive disease The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphi... BeFree 15097233 Detail
0.440 Hypertensive disease In a prospective analysis of a Caucasian population, we recently found that the ... BeFree 15097233 Detail
0.019 myocardial infarction This study investigates whether the interaction between diuretics and alpha-addu... BeFree 17189961 Detail
0.017 myocardial infarction This study investigates whether the interaction between diuretics and alpha-addu... BeFree 17189961 Detail
0.017 Cerebrovascular accident This study investigates whether the interaction between diuretics and alpha-addu... BeFree 17189961 Detail
0.321 Hypertensive disease In the present study, we investigated the association between Gly460Trp polymorp... BeFree 9582105 Detail
0.321 Hypertensive disease Alpha-adducin Gly460Trp polymorphism and hypertension risk: a meta-analysis of 2... BeFree 20927398 Detail
0.025 kidney failure In this large series of ADPKD patients, we found no effect of the ACE (I/D) poly... BeFree 13679477 Detail
0.013 Cardiovascular Diseases Women with the Trp/Trp genotype of alpha-adducin Gly460Trp might have increased ... BeFree 15493144 Detail
0.321 Hypertensive disease Genetic variability in the ADD1 (Gly460Trp) and ADD2 (C1797T) subunits of the cy... BeFree 17301826 Detail
0.321 Hypertensive disease Previous studies have shown an association between the alpha-adducin Gly460Trp p... BeFree 15326084 Detail
0.003 renal hypertension In a Caucasian population, the prevalence and incidence of hypertension, renal f... BeFree 12172317 Detail
<0.001 renal hypertension In a Caucasian population, the prevalence and incidence of hypertension, renal f... BeFree 12172317 Detail
0.017 myocardial infarction Interaction between the Gly460Trp alpha-adducin gene variant and diuretics on th... BeFree 19145769 Detail
0.321 Hypertensive disease ADD1 Gly460Trp polymorphism is associated with salt-sensitive hypertension and i... BeFree 18667944 Detail
<0.001 arteriosclerosis For this reason, we examined the association between the alpha-adducin (ADD1) G4... BeFree 12052841 Detail
0.001 essential hypertension A Gly460Trp variant of the cytoskeletal protein alpha-adducin has recently been ... BeFree 10371374 Detail
0.010 renal hypertension In a Caucasian population, the prevalence and incidence of hypertension, renal f... BeFree 12172317 Detail
0.321 Hypertensive disease Hence, no evidence was found to suggest an association between either the alpha-... BeFree 11116113 Detail
0.321 Hypertensive disease We recently found that femoral intima media thickness, as well as the incidence ... BeFree 11728946 Detail
0.011 atherosclerosis For this reason, we examined the association between the alpha-adducin (ADD1) G4... BeFree 12052841 Detail
<0.001 Hypernatremia The Gly460Trp variant of the alpha-adducin gene has been associated with renal s... BeFree 18458162 Detail
<0.001 atherosclerosis For this reason, we sought to examine the association between the alpha-adducin ... BeFree 11283377 Detail
0.130 essential hypertension The Gly460Trp polymorphism of the alpha-adducin gene (ADD-1 ) has been examined ... BeFree 12195119 Detail
0.003 kidney failure A single-nucleotide polymorphism (Gly460Trp) within the alpha-adducin gene (ADD1... BeFree 16612256 Detail
<0.001 atherosclerosis For this reason, we examined the association between the alpha-adducin (ADD1) G4... BeFree 12052841 Detail
0.321 Hypertensive disease More studies based on a larger population are required to evaluate further the r... BeFree 20145305 Detail
0.017 Cerebrovascular accident Alpha-adducin Gly460Trp variant increases the risk of stroke in hypertensive Dut... BeFree 18458162 Detail
0.224 Kidney Failure, Chronic In this large series of ADPKD patients, we found no effect of the ACE (I/D) poly... BeFree 13679477 Detail
0.321 Hypertensive disease In previous studies, an association has been found between the alpha-adducin Gly... BeFree 11775124 Detail
0.130 essential hypertension Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea. BeFree 15608390 Detail
0.321 Hypertensive disease Additional studies have suggested that a polymorphism within exon 10 of the huma... BeFree 10912756 Detail
0.321 Hypertensive disease In this short editorial review, we summarize the recent experimental, clinical a... BeFree 16207143 Detail
0.130 essential hypertension α-Adducin Gly460Trp gene mutation and essential hypertension in a Chinese popula... BeFree 22272309 Detail
0.003 IgA glomerulonephritis The ADD1 G460W-dominant model for the G allele was significantly associated with... BeFree 24271554 Detail
0.321 Hypertensive disease Lack of association between alpha-adducin G460W polymorphism and hypertension: e... BeFree 19960031 Detail
<0.001 arteriosclerosis For this reason, we sought to examine the association between the alpha-adducin ... BeFree 11283377 Detail
0.130 essential hypertension Alpha-adducin Gly460Trp polymorphism and renal hemodynamics in essential hyperte... BeFree 15326084 Detail
0.005 endolymphatic hydrops Gly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphati... BeFree 18667944 Detail
0.013 coronary artery disease Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease... BeFree 17984662 Detail
<0.001 Chronic kidney disease stage 5 We investigated the effect of ACE (I/D) polymorphism on the age at end-stage ren... BeFree 13679477 Detail
0.003 Hyperlipidemia, Familial Combined Association between the alpha-adducin Gly460Trp polymorphism and systolic blood ... BeFree 11775124 Detail
0.321 Hypertensive disease An interaction with hypertension in the association between the ADD1 G460W polym... BeFree 12052841 Detail
0.321 Hypertensive disease The alpha-adducin (ADD1) Gly460Trp polymorphism has been associated with hyperte... BeFree 18657677 Detail
<0.001 Polycystic Kidney, Autosomal Dominant Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal domi... BeFree 13679477 Detail
0.321 Hypertensive disease The ADD1 Gly460Trp polymorphism is significantly associated with an increased ri... BeFree 17984662 Detail
0.321 Hypertensive disease Also in humans, a polymorphism of alpha-adducin gene (Gly460Trp) has been found ... BeFree 9678591 Detail
0.130 essential hypertension No clear consensus has been reached on the alpha-adducin polymorphism (Gly460Trp... BeFree 20927398 Detail
0.093 Hypertensive disease Genetic variability in the ADD1 (Gly460Trp) and ADD2 (C1797T) subunits of the cy... BeFree 17301826 Detail
0.130 essential hypertension A Gly460Trp variant in the alpha-adducin gene has been associated with essential... BeFree 15187197 Detail
0.321 Hypertensive disease The alpha-adducin Gly460Trp polymorphism and the antihypertensive effects of exe... BeFree 17472579 Detail
0.011 Chronic kidney disease stage 5 We investigated the effect of ACE (I/D) polymorphism on the age at end-stage ren... BeFree 13679477 Detail
0.130 essential hypertension Role of the Gly460Trp polymorphism of the alpha-adducin gene in primary hyperten... BeFree 10673730 Detail
0.130 essential hypertension Recent studies have found the tryptophan allele of a glycine to tryptophan polym... BeFree 10912757 Detail
0.321 Hypertensive disease The ADD1 G460W-dominant model for the G allele was significantly associated with... BeFree 24271554 Detail
0.006 Kidney Failure, Chronic In this large series of ADPKD patients, we found no effect of the ACE (I/D) poly... BeFree 13679477 Detail
0.006 Coronary heart disease Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease... BeFree 17984662 Detail
0.440 Hypertensive disease Hence, no evidence was found to suggest an association between either the alpha-... BeFree 11116113 Detail
0.321 Hypertensive disease The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism an... BeFree 19443911 Detail
<0.001 Coronary Arteriosclerosis Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease... BeFree 17984662 Detail
0.130 essential hypertension α-adducin Gly460Trp polymorphism and essential hypertension risk in Chinese: a m... BeFree 21228790 Detail
0.321 Hypertensive disease alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension i... BeFree 12195119 Detail
0.130 essential hypertension We concluded that the Trp/Trp genotype of alpha-adducin Gly460Trp was associated... BeFree 15493144 Detail
0.363 Hypertensive disease alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension i... BeFree 12195119 Detail
0.321 Hypertensive disease The Gly460Trp variant of the alpha-adducin gene has been associated with the sal... BeFree 19145769 Detail
0.003 kidney failure In this large series of ADPKD patients, we found no effect of the ACE (I/D) poly... BeFree 13679477 Detail
0.014 Polycystic Kidney, Autosomal Dominant Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal domi... BeFree 13679477 Detail
0.002 arteriosclerosis For this reason, we examined the association between the alpha-adducin (ADD1) G4... BeFree 12052841 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) AND Hypertension, salt-sensitive essential, susceptibil... ClinVar Detail
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) AND hydrochlorothiazide response - Efficacy ClinVar Detail
In this study, 3 physiologically important candidate gene mutations (angiotensinogen A[-6], alpha-Ad... DisGeNET Detail
In this study, 3 physiologically important candidate gene mutations (angiotensinogen A[-6], alpha-Ad... DisGeNET Detail
In this study, 3 physiologically important candidate gene mutations (angiotensinogen A[-6], alpha-Ad... DisGeNET Detail
In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... DisGeNET Detail
In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... DisGeNET Detail
In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... DisGeNET Detail
In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... DisGeNET Detail
The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphisms interact to infl... DisGeNET Detail
The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphisms interact to infl... DisGeNET Detail
In a prospective analysis of a Caucasian population, we recently found that the genes encoding angio... DisGeNET Detail
This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or ... DisGeNET Detail
This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or ... DisGeNET Detail
This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or ... DisGeNET Detail
In the present study, we investigated the association between Gly460Trp polymorphism of the alpha-ad... DisGeNET Detail
Alpha-adducin Gly460Trp polymorphism and hypertension risk: a meta-analysis of 22 studies including ... DisGeNET Detail
In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age ... DisGeNET Detail
Women with the Trp/Trp genotype of alpha-adducin Gly460Trp might have increased risk for cardiovascu... DisGeNET Detail
Genetic variability in the ADD1 (Gly460Trp) and ADD2 (C1797T) subunits of the cytoskeleton protein a... DisGeNET Detail
Previous studies have shown an association between the alpha-adducin Gly460Trp polymorphism and salt... DisGeNET Detail
In a Caucasian population, the prevalence and incidence of hypertension, renal function and large ar... DisGeNET Detail
In a Caucasian population, the prevalence and incidence of hypertension, renal function and large ar... DisGeNET Detail
Interaction between the Gly460Trp alpha-adducin gene variant and diuretics on the risk of myocardial... DisGeNET Detail
ADD1 Gly460Trp polymorphism is associated with salt-sensitive hypertension and increased Na-K pump a... DisGeNET Detail
For this reason, we examined the association between the alpha-adducin (ADD1) G460W and G-protein be... DisGeNET Detail
A Gly460Trp variant of the cytoskeletal protein alpha-adducin has recently been implicated in the et... DisGeNET Detail
In a Caucasian population, the prevalence and incidence of hypertension, renal function and large ar... DisGeNET Detail
Hence, no evidence was found to suggest an association between either the alpha-adducin G460W or the... DisGeNET Detail
We recently found that femoral intima media thickness, as well as the incidence of hypertension, is ... DisGeNET Detail
For this reason, we examined the association between the alpha-adducin (ADD1) G460W and G-protein be... DisGeNET Detail
The Gly460Trp variant of the alpha-adducin gene has been associated with renal sodium retention and ... DisGeNET Detail
For this reason, we sought to examine the association between the alpha-adducin (ADD1) G/W460 and G-... DisGeNET Detail
The Gly460Trp polymorphism of the alpha-adducin gene (ADD-1 ) has been examined as a candidate gene ... DisGeNET Detail
A single-nucleotide polymorphism (Gly460Trp) within the alpha-adducin gene (ADD1) may influence seve... DisGeNET Detail
For this reason, we examined the association between the alpha-adducin (ADD1) G460W and G-protein be... DisGeNET Detail
More studies based on a larger population are required to evaluate further the role of alpha-adducin... DisGeNET Detail
Alpha-adducin Gly460Trp variant increases the risk of stroke in hypertensive Dutch women. DisGeNET Detail
In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age ... DisGeNET Detail
In previous studies, an association has been found between the alpha-adducin Gly460Trp polymorphism ... DisGeNET Detail
Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea. DisGeNET Detail
Additional studies have suggested that a polymorphism within exon 10 of the human alpha-adducin gene... DisGeNET Detail
In this short editorial review, we summarize the recent experimental, clinical and epidemiological e... DisGeNET Detail
α-Adducin Gly460Trp gene mutation and essential hypertension in a Chinese population: a meta-analysi... DisGeNET Detail
The ADD1 G460W-dominant model for the G allele was significantly associated with hypertension of IgA... DisGeNET Detail
Lack of association between alpha-adducin G460W polymorphism and hypertension: evidence from a case-... DisGeNET Detail
For this reason, we sought to examine the association between the alpha-adducin (ADD1) G/W460 and G-... DisGeNET Detail
Alpha-adducin Gly460Trp polymorphism and renal hemodynamics in essential hypertension. DisGeNET Detail
Gly460Trp alpha-adducin mutation as a possible mechanism leading to endolymphatic hydrops in Ménière... DisGeNET Detail
Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean populat... DisGeNET Detail
We investigated the effect of ACE (I/D) polymorphism on the age at end-stage renal disease (ESRD) in... DisGeNET Detail
Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial... DisGeNET Detail
An interaction with hypertension in the association between the ADD1 G460W polymorphism and cardiova... DisGeNET Detail
The alpha-adducin (ADD1) Gly460Trp polymorphism has been associated with hypertension and response t... DisGeNET Detail
Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidn... DisGeNET Detail
The ADD1 Gly460Trp polymorphism is significantly associated with an increased risk of coronary arter... DisGeNET Detail
Also in humans, a polymorphism of alpha-adducin gene (Gly460Trp) has been found to be significantly ... DisGeNET Detail
No clear consensus has been reached on the alpha-adducin polymorphism (Gly460Trp) and essential hype... DisGeNET Detail
Genetic variability in the ADD1 (Gly460Trp) and ADD2 (C1797T) subunits of the cytoskeleton protein a... DisGeNET Detail
A Gly460Trp variant in the alpha-adducin gene has been associated with essential hypertension. DisGeNET Detail
The alpha-adducin Gly460Trp polymorphism and the antihypertensive effects of exercise among men with... DisGeNET Detail
We investigated the effect of ACE (I/D) polymorphism on the age at end-stage renal disease (ESRD) in... DisGeNET Detail
Role of the Gly460Trp polymorphism of the alpha-adducin gene in primary hypertension in Scandinavian... DisGeNET Detail
Recent studies have found the tryptophan allele of a glycine to tryptophan polymorphism at position ... DisGeNET Detail
The ADD1 G460W-dominant model for the G allele was significantly associated with hypertension of IgA... DisGeNET Detail
In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age ... DisGeNET Detail
Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean populat... DisGeNET Detail
Hence, no evidence was found to suggest an association between either the alpha-adducin G460W or the... DisGeNET Detail
The angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the Adducin-1 (ADD... DisGeNET Detail
Association of alpha-adducin Gly460Trp polymorphism with coronary artery disease in a Korean populat... DisGeNET Detail
α-adducin Gly460Trp polymorphism and essential hypertension risk in Chinese: a meta-analysis. DisGeNET Detail
alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension in younger subjects i... DisGeNET Detail
We concluded that the Trp/Trp genotype of alpha-adducin Gly460Trp was associated with lower serum bi... DisGeNET Detail
alpha-Adducin Gly460Trp polymorphism is associated with low renin hypertension in younger subjects i... DisGeNET Detail
The Gly460Trp variant of the alpha-adducin gene has been associated with the salt-sensitive and diur... DisGeNET Detail
In this large series of ADPKD patients, we found no effect of the ACE (I/D) polymorphism on the age ... DisGeNET Detail
Influence of ACE (I/D) and G460W polymorphism of alpha-adducin in autosomal dominant polycystic kidn... DisGeNET Detail
For this reason, we examined the association between the alpha-adducin (ADD1) G460W and G-protein be... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4961 dbSNP
Genome
hg19
Position
chr4:2,906,707-2,906,707
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
132.30
Standard deviation of sample read depth (HGVD)
62.31
Number of reference allele (HGVD)
1047
Number of alternative allele (HGVD)
1369
Allele Frequency (HGVD)
0.5666390728476821
Gene Symbol (HGVD)
ADD1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs4961
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5449
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9132
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
4106
East Asian Heterozygous Counts (ExAC)
2116
East Asian Homozygous Counts (ExAC)
995
East Asian Allele Frequency (ExAC)
0.47600278228611176
Chromosome Counts in All Race (ExAC)
121286
Allele Counts in All Race (ExAC)
24484
Heterozygous Counts in All Race (ExAC)
18492
Homozygous Counts in All Race (ExAC)
2996
Allele Frequency in All Race (ExAC)
0.201869960259222
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