All variants in the ACTN2 gene

Information The variants shown are described using the NM_001103.2 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
./. 01 c.26A>G - p.Gln9Arg a-Actinin-2 - GenBank ACTN2_00001 - heart - Qi Ming
./. 01 c.26A>G - p.Gln9Arg DNA sequence analysis identified a heterozygous substitution at nucleotide 26 (A-G) - GenBank ACTN2_00001 - blood - Qi Ming
./. 02 c.241+33T>G - - IVS2+33 A>G - GenBank ACTN2_00023 0.3% whole blood - Qi Ming
./. 03 c.244G>A - p.Glu82Lys - - GenBank ACTN2_00044 NA unknown - Qi Ming
./. 03 c.301A>G - p.Asn101Asp - - GenBank ACTN2_00085 NA unknown - Qi Ming
./. 03 c.331G>A - p.Gly111Arg - - GenBank ACTN2_00084 NA unknown - Qi Ming
./. 03 c.332G>T - p.Gly111Val ACTN2 - GenBank ACTN2_00003 - heart - Qi Ming
./. 03 c.332G>T - p.Gly111Val G111V - GenBank ACTN2_00003 - blood - Qi Ming
./. 03 c.355G>A - p.Ala119Thr ACTN2 - GenBank ACTN2_00002 1.7% heart - Qi Ming
./. 03 c.355G>A - p.Ala119Thr A missense mutation, Ala119Thr - GenBank ACTN2_00002 0.3% whole blood - Qi Ming
./. 04 c.378T>C - p.Asn126Asn Asn126Asn - GenBank ACTN2_00004 4.7% whole blood - Qi Ming
./. 04 c.448+73G>A - - IVS4+73 A>G - GenBank ACTN2_00089 0.3% whole blood - Qi Ming
./. 05 c.508A>C - p.Asn170His - - GenBank ACTN2_00083 NA unknown - Qi Ming
./. 05 c.536+10C>T - - IVS5+10 C>T - GenBank ACTN2_00025 0.3% whole blood - Qi Ming
./. 07 c.617A>G - p.Asp206Gly - - GenBank ACTN2_00082 NA unknown - Qi Ming
./. 07 c.686T>G - p.Leu229Trp - - GenBank ACTN2_00081 NA unknown - Qi Ming
./. 07 c.690T>A - p.Asp230Glu - - GenBank ACTN2_00080 NA unknown - Qi Ming
./. 07 c.697+34A>G - - IVS7+34 G>A - GenBank ACTN2_00026 23.9% whole blood - Qi Ming
./. 08 c.705G>C - p.Val235Val Val235Val - GenBank ACTN2_00086 0.3% whole blood - Qi Ming
./. 08 c.783+23G>C - - IVS8+23 G>C - GenBank ACTN2_00027 34.7% whole blood - Qi Ming
./. 09 c.876+41G>T - - IVS9+41 C>T - GenBank ACTN2_00030 1.7% blood - Qi Ming
./. 10 c.877-48A>C - - IVS9-48 G>C - GenBank ACTN2_00028 0.3% whole blood - Qi Ming
./. 10 c.877-42C>T - - IVS9-42 C>T - GenBank ACTN2_00029 0.3% blood - Qi Ming
./. 10 c.893G>A - p.Arg298His - - GenBank ACTN2_00079 NA unknown - Qi Ming
./. 10 c.899C>T - p.Thr300Met - - GenBank ACTN2_00078 NA unknown - Qi Ming
./. 10 c.920G>A - p.Arg307Gln - - GenBank ACTN2_00077 NA unknown - Qi Ming
./. 10 c.926C>T - p.Pro309Leu - - GenBank ACTN2_00076 NA unknown - Qi Ming
./. 10 c.983G>A - p.Arg328Gln Arg328Gln - GenBank ACTN2_00033 0.3% blood - Qi Ming
./. 10 c.1057C>G - p.Arg353Gly - - GenBank ACTN2_00075 NA unknown - Qi Ming
./. 11 c.1108-8C>G - - IVS10-8 G>C - GenBank ACTN2_00090 9.4% blood - Qi Ming
./. 11 c.1115C>G - p.Ala372Gly - - GenBank ACTN2_00074 NA unknown - Qi Ming
./. 11 c.1192C>T - p.Arg398Cys - - GenBank ACTN2_00073 NA unknown - Qi Ming
./. 11 c.1235C>T - p.Thr412Met - - GenBank ACTN2_00072 NA unknown - Qi Ming
./. 12 c.1292C>T - p.Ser431Leu - - GenBank ACTN2_00071 NA unknown - Qi Ming
./. 12 c.1298C>T - p.Ser433Leu - - GenBank ACTN2_00070 NA unknown - Qi Ming
./. 12 c.1341C>T - p.Phe447Phe Phe447Phe - GenBank ACTN2_00034 0.3% blood - Qi Ming
./. 13 c.1423G>A - p.Asp475Asn - - GenBank ACTN2_00069 NA unknown - Qi Ming
./. 13 c.1426G>A - p.Ala476Thr - - GenBank ACTN2_00068 NA unknown - Qi Ming
./. 13 c.1484C>T - p.Thr495Met T495M - GenBank ACTN2_00019 - blood - Qi Ming
./. 13 c.1484C>T - p.Thr495Met Thr495Met - GenBank ACTN2_00019 0.7% whole blood - Qi Ming
./. 13 c.1513G>T - p.Glu505X - - GenBank ACTN2_00067 NA unknown - Qi Ming
./. 13 c.1515+48T>C - - IVS13+48 T>C - GenBank ACTN2_00035 5.7% blood - Qi Ming
./. 13 c.1515+62A>G - - IVS13+62 A>G - GenBank ACTN2_00036 1.3% blood - Qi Ming
./. 14 c.1519A>G - p.Met507Val - - GenBank ACTN2_00066 NA unknown - Qi Ming
./. 14 c.1646A>T - p.Glu549Val - - GenBank ACTN2_00065 NA unknown - Qi Ming
./. 14 c.1654C>A - p.Gln552Lys - - GenBank ACTN2_00064 NA unknown - Qi Ming
./. 15 c.1714C>T - p.Arg572Trp - - GenBank ACTN2_00063 NA unknown - Qi Ming
./. 15 c.1715G>A - p.Arg572Gln - - GenBank ACTN2_00062 NA unknown - Qi Ming
./. 15 c.1748A>C - p.Glu583Ala Glu583Ala - GenBank ACTN2_00021 0.3% whole blood - Qi Ming
./. 15 c.1810A>G - p.Met604Val In another DCM proband a further change was identified, in exon 15 at nucleotide 1810 (A-G) - GenBank ACTN2_00018 - blood - Qi Ming
./. 15 c.1810A>G - p.Met604Val - - GenBank ACTN2_00018 NA unknown - Qi Ming
./. 16 c.1840-28delTTG - - IVS15delTTG-28 - GenBank ACTN2_00037 1.0% blood - Qi Ming
./. 16 c.1864G>A - p.Asp622Asn - - GenBank ACTN2_00061 NA unknown - Qi Ming
./. 16 c.1883A>G - p.Glu628Gly Glu628Gly - GenBank ACTN2_00022 0.3% whole blood - Qi Ming
./. 16 c.1930G>A - p.Ala644Thr Ala644Thr - GenBank ACTN2_00038 0.3% blood - Qi Ming
./. 16 c.1930G>A - p.Ala644Thr - - GenBank ACTN2_00038 NA unknown - Qi Ming
./. 16 c.1946T>C - p.Ile649Thr - - GenBank ACTN2_00060 NA unknown - Qi Ming
./. 17 c.1984C>T - p.Arg662Trp - - GenBank ACTN2_00059 NA unknown - Qi Ming
./. 17 c.2063A>G - p.Tyr688Cys - - GenBank ACTN2_00058 NA unknown - Qi Ming
./. 17 c.2139G>C - p.Thr713Thr Thr713Thr - GenBank ACTN2_00088 0.3% blood - Qi Ming
./. 17 c.2143T>C - p.Tyr715His - - GenBank ACTN2_00057 NA unknown - Qi Ming
./. 18 c.2161C>A - p.Arg721Ser - - GenBank ACTN2_00056 NA unknown - Qi Ming
./. 18 c.2237A>G - p.Asp746Gly - - GenBank ACTN2_00055 NA unknown - Qi Ming
./. 18 c.2252C>T - p.Thr751Ile - - GenBank ACTN2_00054 NA unknown - Qi Ming
./. 18 c.2276G>C - p.Arg759Thr R759T - GenBank ACTN2_00020 - blood - Qi Ming
./. 19 c.2302-30A>G - - IVS18-30 G>A - GenBank ACTN2_00040 1.3% blood - Qi Ming
./. 19 c.2324A>T - p.His775Leu - - GenBank ACTN2_00053 NA unknown - Qi Ming
./. 20 c.2377G>A - p.Glu793Lys - - GenBank ACTN2_00052 NA unknown - Qi Ming
./. 20 c.2423C>T - p.Thr808Ile - - GenBank ACTN2_00051 NA unknown - Qi Ming
./. 20 c.2468C>T - p.Ala823Val - - GenBank ACTN2_00050 NA unknown - Qi Ming
./. 20 c.2488C>A - p.Gln830Lys - - GenBank ACTN2_00049 NA unknown - Qi Ming
./. 20 c.2526+34G>G - - IVS20+34 A>G - GenBank ACTN2_00041 - blood - Qi Ming
./. 21 c.2551C>T - p.Arg851Cys - - GenBank ACTN2_00048 NA unknown - Qi Ming
./. 21 c.2602G>A - p.Ala868Thr - - GenBank ACTN2_00047 NA unknown - Qi Ming
./. 21 c.2610G>C - p.Ser870Ser Ser870Ser - GenBank ACTN2_00087 33.3% blood - Qi Ming
./. 21 c.2639A>C - p.Asp880Ala - - GenBank ACTN2_00046 NA unknown - Qi Ming
./. 21 c.2659G>A - p.Ala887Thr - - GenBank ACTN2_00045 NA unknown - Qi Ming
./. 21 c.2677G>A - p.Asp893Asn - - GenBank ACTN2_00043 NA Unknown - Qi Ming
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