Transcript #00001778

Transcript name transcript variant IC
Gene name TTN (titin)
Chromosome 2
Transcript - NCBI ID NM_001267550.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001254479.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1328 entries on 14 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
-?/. 18 c.(2927_2928)G>A - r.(=) p.(Trp976Arg)
-/. 43i c.10115-1712AC[(16_18)] - r.(?) p.(=)
-/. 61i c.17740+64A[(10_11)] - r.(=) p.(=)
-/. 93i c.26762-40TTTTG[(5_9)] - r.(=) p.(=)
-/. 111i c.30598+153A[(11_12)] - r.(=) p.(=)
-/. 128i c.32312-540A[(22_25)] - r.(=) p.(=)
-/. 20i c.3380+283AC[(12_13)] - r.(=) p.(=)
-/. 147i c.34292-74AT[(13_16)] - r.(=) p.(=)
-/. 37i c.8902+14TA[(8_9)] - r.(=) p.(=)
?/. ? c.? - r.? p.?
?/. 2i c.91+5G>A - r.(spl?) p.(?)
+?/. 3 c.160G>A - - p.Val54Met
+/. 3 c.160G>A - r.(?) p.(Val54Met)
-?/. 3 c.178G>T - r.(?) p.(Asp60Tyr)
?/? 3i c.296-14T>C - r.(?) p.(=)
+?/. 4 c.325C>T - r.(?) p.(Arg109*)
?/. 4 c.343G>A - r.(?) p.(Val115Met)
?/. 4 c.426C>T - r.(?) p.(=)
?/. 6 c.755A>G - r.(?) p.(Lys252Arg)
?/. 6 c.765_776del - r.(?) p.(Arg256_Pro259del)
?/? 6 c.776C>T - r.(?) p.(Pro259Leu)
?/-? 6 c.835C>T - r.(?) p.(Arg279Trp)
-/. 7 c.982C>T - r.(?) p.(Arg328Cys)
-/. 7 c.982C>T - r.(?) p.(Arg328Cys)
?/. 7 c.1079G>C - r.(?) p.(Arg360Thr)
?/. 7 c.1137A>G - r.(?) p.(=)
?/. 7 c.1221G>A - r.(?) p.(Glu407=)
+?/. 7i c.1245+3A>G - r.spl? p.?
-?/. 7i c.1246-49C>G - r.(?) p.(=)
?/. 7i c.1246-3delT - r.(spl?) p.(=)
?/. 8i c.1398+4C>T - r.(spl?) p.(?)
?/. 8i c.1398+4C>T - r.spl? p.?
-/. 9 c.1492G>A - r.(?) p.(Val498Ile)
?/. 14 c.2218C>A - r.(?) p.(Arg740Ser)
+/. 14 c.2219G>T - r.(?) p.Arg740Leu
+/. 14 c.2219G>T - r.(?) p.(Arg740Leu)
?/. 14 c.2226C>A - r.(?) p.(=)
+/. 14 c.2228C>T - r.(?) p.(Ala743Val)
+/. 14 c.2228C>T - r.(?) p.Ala743Val
+/. 14 c.2228C>T - r.(?) p.(Ala743Val)
-/. 14 c.2244G>A - r.(?) p.(=)
-?/. 14 c.2244G>A - r.(?) p.(Glu748=)
?/. 15 c.2396C>T - r.(?) p.(Thr799Met)
-/. 15 c.2432C>T - r.(?) p.(Thr811Ile)
-?/. 15 c.2432C>T - r.(?) p.(Thr811Ile)
+?/. 16 c.2494G>T - r.(?) p.(Ala832Ser)
?/. 16 c.2765G>A - r.(?) p.(Arg922His)
?/. 17 c.2781A>C - r.(?) p.(=)
?/. 17 c.2811A>C - r.(?) p.(Glu937Asp)
+?/. 17 c.2841G>T - r.(=) p.(=)
+/. 18 c.2926T>C - r.(?) p.(Trp976Arg)
?/. 18 c.2949C>T - r.(?) p.(=)
?/. 18 c.2967C>A - r.(?) p.(Phe989Leu)
-/. 18 c.3087T>C - r.(?) p.(=)
+?/. 18 c.3100G>A - r.(spl?) p.(Val1034Met?)
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met)
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met)
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met)
+?/. 18 c.3100G>A - r.(spl?) p.(Val1034Met)
?/. 18 c.3100G>A - r.(?) p.(Val1034Met)
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met)
+?/. 18 c.3100G>A - r.(?) p.(Val1034Met)
+?/. 18 c.3100G>A - r.spl? p.(Val1034Met)
?/. 18i c.3101-2A>T - r.spl p.?
?/. 20i c.3241G>A - r.(?) p.(Ala1081Thr)
?/. 21 c.3388G>C - r.(?) p.(Val1130Leu)
?/. 21 c.3409G>C - r.(?) p.(Gly1137Arg)
?/. 21 c.3409G>C - r.(?) p.(Gly1137Arg)
?/. 21 c.3409G>C - r.(?) p.(Gly1137Arg)
-/. 22 c.3601A>G - r.(?) p.(Lys1201Glu)
?/. 22 c.3605T>C - r.(?) p.(Val1202Ala)
?/. 22 c.3605T>C - r.(?) p.(Val1202Ala)
?/. 22 c.3605T>C - r.(?) p.(V1156A)
?/. 22 c.3695A>T - r.(?) p.(Asp1232Val)
-/. 23 c.3759A>G - r.(?) p.(=)
-/. 23 c.3884C>T - r.(?) p.(Ser1295Leu)
?/. 24 c.3993C>T - r.(?) p.(=)
?/. 24 c.4034G>A - r.(?) p.(Gly1345Asp)
?/. 24 c.4039G>A - r.(?) p.(Ala1347Thr)
?/. 24 c.4048C>T - r.(?) p.(Arg1350Cys)
?/. 24 c.4049G>A - r.(?) p.(Arg1350His)
?/. 24 c.4057G>C - r.(?) p.(Val1353Leu)
?/. 24 c.4177A>G - r.(?) p.(Ile1393Val)
-?/. 24 c.4199G>C - r.(?) p.(Ser1400Thr)
?/. 25 c.4222C>T - r.(?) p.(Arg1408Cys)
?/. 25 c.4246C>T - r.(?) p.(Arg1416Cys)
?/. 25 c.4289C>A - r.(?) p.(Ala1430Glu)
-?/. 25 c.4322G>C - r.(?) p.(Arg1441Pro)
?/. 25 c.4347A>G - r.(?) p.(=)
?/. 25 c.4359A>T - r.(?) p.(Arg1453Ser)
?/. 25 c.4396T>C - r.(?) p.(Phe1466Leu)
?/. 25 c.4396T>C - r.(?) p.(Phe1466Leu)
?/. 26 c.4532G>A - r.(?) p.(Gly1511Asp)
-?/. 26 c.4630A>G - r.(?) p.(Ile1544Val)
-/. 27 c.4715G>A - r.(?) p.(Arg1572Gln)
+?/. 27 c.4724_4728del - r.(?) p.(Met1575Serfs*6)
?/. 28 c.4972A>G - r.(?) p.(Arg1658Gly)
?/. 28 c.4991G>A - r.(?) p.(Arg1664Gln)
?/. 28 c.5075G>A - r.(?) p.(Gly1692Asp)
?/. 28 c.5231C>T - r.(?) p.(Pro1744Leu)
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