Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30387 | 91384;91385;91386 | chr2:178551741;178551740;178551739 | chr2:179416468;179416467;179416466 |
| N2AB | 28746 | 86461;86462;86463 | chr2:178551741;178551740;178551739 | chr2:179416468;179416467;179416466 |
| N2A | 27819 | 83680;83681;83682 | chr2:178551741;178551740;178551739 | chr2:179416468;179416467;179416466 |
| N2B | 21322 | 64189;64190;64191 | chr2:178551741;178551740;178551739 | chr2:179416468;179416467;179416466 |
| Novex-1 | 21447 | 64564;64565;64566 | chr2:178551741;178551740;178551739 | chr2:179416468;179416467;179416466 |
| Novex-2 | 21514 | 64765;64766;64767 | chr2:178551741;178551740;178551739 | chr2:179416468;179416467;179416466 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs754591100  |
-0.021 | 0.008 | N | 0.329 | 0.164 | 0.299770980665 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs754591100 |
-0.021 | 0.008 | N | 0.329 | 0.164 | 0.299770980665 | gnomAD-4.0.0 | 4.77377E-06 | None | None | None | None | N | None | 0 | 4.57289E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02389E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0715 | likely_benign | 0.0704 | benign | -0.742 | Destabilizing | 0.517 | D | 0.504 | neutral | N | 0.473538733 | None | None | N |
| T/C | 0.3103 | likely_benign | 0.2903 | benign | -0.426 | Destabilizing | 0.996 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/D | 0.4444 | ambiguous | 0.4456 | ambiguous | 0.099 | Stabilizing | 0.987 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/E | 0.3742 | ambiguous | 0.3702 | ambiguous | 0.058 | Stabilizing | 0.987 | D | 0.666 | neutral | None | None | None | None | N |
| T/F | 0.1726 | likely_benign | 0.179 | benign | -1.038 | Destabilizing | 0.923 | D | 0.771 | deleterious | None | None | None | None | N |
| T/G | 0.1634 | likely_benign | 0.1599 | benign | -0.936 | Destabilizing | 0.961 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/H | 0.2659 | likely_benign | 0.2603 | benign | -1.189 | Destabilizing | 0.996 | D | 0.757 | deleterious | None | None | None | None | N |
| T/I | 0.1078 | likely_benign | 0.1128 | benign | -0.333 | Destabilizing | 0.008 | N | 0.329 | neutral | N | 0.47329825 | None | None | N |
| T/K | 0.2534 | likely_benign | 0.2694 | benign | -0.611 | Destabilizing | 0.961 | D | 0.671 | neutral | None | None | None | None | N |
| T/L | 0.0726 | likely_benign | 0.0737 | benign | -0.333 | Destabilizing | 0.197 | N | 0.484 | neutral | None | None | None | None | N |
| T/M | 0.0791 | likely_benign | 0.0777 | benign | -0.058 | Destabilizing | 0.415 | N | 0.431 | neutral | None | None | None | None | N |
| T/N | 0.1171 | likely_benign | 0.1147 | benign | -0.45 | Destabilizing | 0.983 | D | 0.582 | neutral | N | 0.516750792 | None | None | N |
| T/P | 0.1138 | likely_benign | 0.106 | benign | -0.439 | Destabilizing | 0.983 | D | 0.725 | prob.delet. | N | 0.495548801 | None | None | N |
| T/Q | 0.241 | likely_benign | 0.2378 | benign | -0.648 | Destabilizing | 0.961 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/R | 0.2213 | likely_benign | 0.2353 | benign | -0.328 | Destabilizing | 0.961 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/S | 0.0865 | likely_benign | 0.0841 | benign | -0.736 | Destabilizing | 0.84 | D | 0.49 | neutral | N | 0.473517303 | None | None | N |
| T/V | 0.0872 | likely_benign | 0.0883 | benign | -0.439 | Destabilizing | 0.197 | N | 0.43 | neutral | None | None | None | None | N |
| T/W | 0.5111 | ambiguous | 0.5168 | ambiguous | -0.971 | Destabilizing | 0.996 | D | 0.769 | deleterious | None | None | None | None | N |
| T/Y | 0.2587 | likely_benign | 0.2517 | benign | -0.735 | Destabilizing | 0.961 | D | 0.777 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.