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Table 1 MiR-1 and miR-133 gene variants identified in familial AF probands

From: A heterozygous variant in the human cardiac miR-133 gene, MIR133A2, alters miRNA duplex processing and strand abundance

Gene

Chromosome

Nucleotide changea

Major/Minor allele

Minor allele frequencyb

dbSNPc

AF

Controls

ESP

1000G

MIR1-1

20

−43C > T

C/T

0.004

NA

-

-

Novel

MIR1-2

18

+15A > G

A/G

0.017

NA

0.020

0.018

rs9989532

  

+74T > C

T/C

0.046

NA

0.087

0.071

rs78641532

MIR133A2

20

−102G > A

G/A

0.142

0.122

-

0.207

rs45547937

  

−82G > A

G/A

0.142

0.122

-

0.206

rs13040566

  

−19G > A

G/A

0.142

0.122

0.229

0.207

rs13040413

  

79T > C

T/C

0.004

0

-

-

Novel

  

+47T > C

T/C

0.400

0.340

0.388

0.387

rs6062251

  

+69G > A

G/A

0.004

0.010

0.006

0.009

rs149629841

MIR133B

6

−25delA

A/-

0.083

NA

0.075

0.074

rs142410335

  1. a Location of nucleotide changes is shown as (−) downstream or (+) upstream of the miRNA stem-loop sequence (as annotated by miRBase).
  2. bAF, atrial fibrillation (n = 120, this study cohort); Controls, healthy volunteer subjects (n = 250, this study cohort); ESP, NHLBI Exome Sequencing Project (European American subgroup data); 1000G, 1000Genomes Project (European subgroup data). NA, data not available (not tested).
  3. c dbSNP, Database of Single Nucleotide Polymorphisms [http://www.ncbi.nlm.nih.gov/projects/SNP/].