Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30282 | 91069;91070;91071 | chr2:178552056;178552055;178552054 | chr2:179416783;179416782;179416781 |
| N2AB | 28641 | 86146;86147;86148 | chr2:178552056;178552055;178552054 | chr2:179416783;179416782;179416781 |
| N2A | 27714 | 83365;83366;83367 | chr2:178552056;178552055;178552054 | chr2:179416783;179416782;179416781 |
| N2B | 21217 | 63874;63875;63876 | chr2:178552056;178552055;178552054 | chr2:179416783;179416782;179416781 |
| Novex-1 | 21342 | 64249;64250;64251 | chr2:178552056;178552055;178552054 | chr2:179416783;179416782;179416781 |
| Novex-2 | 21409 | 64450;64451;64452 | chr2:178552056;178552055;178552054 | chr2:179416783;179416782;179416781 |
| 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/M | rs756769026  |
-0.184 | 1.0 | N | 0.75 | 0.489 | 0.562617508568 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | N | None | 8.27E-05 | 1.41507E-04 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 7.81E-06 | 0 |
| T/M | rs756769026 |
-0.184 | 1.0 | N | 0.75 | 0.489 | 0.562617508568 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| T/M | rs756769026 |
-0.184 | 1.0 | N | 0.75 | 0.489 | 0.562617508568 | gnomAD-4.0.0 | 2.47899E-05 | None | None | None | None | N | None | 6.67592E-05 | 8.33639E-05 | None | 0 | 2.22846E-05 | None | 0 | 0 | 2.03431E-05 | 1.09844E-05 | 6.40533E-05 |
| T/R | None | None | 1.0 | N | 0.709 | 0.478 | 0.517432700143 | gnomAD-4.0.0 | 6.84258E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99496E-07 | 0 | 0 |
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 | 0.1449 | likely_benign | 0.1602 | benign | -1.022 | Destabilizing | 0.767 | D | 0.359 | neutral | N | 0.508884422 | None | None | N |
| T/C | 0.3935 | ambiguous | 0.4693 | ambiguous | -0.53 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| T/D | 0.6834 | likely_pathogenic | 0.7129 | pathogenic | -0.075 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/E | 0.5796 | likely_pathogenic | 0.6047 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| T/F | 0.7116 | likely_pathogenic | 0.7511 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| T/G | 0.3416 | ambiguous | 0.3921 | ambiguous | -1.364 | Destabilizing | 0.997 | D | 0.591 | neutral | None | None | None | None | N |
| T/H | 0.4679 | ambiguous | 0.525 | ambiguous | -1.391 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/I | 0.6133 | likely_pathogenic | 0.6564 | pathogenic | -0.163 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/K | 0.3644 | ambiguous | 0.3896 | ambiguous | -0.295 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.498666979 | None | None | N |
| T/L | 0.2092 | likely_benign | 0.2435 | benign | -0.163 | Destabilizing | 0.997 | D | 0.514 | neutral | None | None | None | None | N |
| T/M | 0.1573 | likely_benign | 0.1669 | benign | -0.12 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.518038682 | None | None | N |
| T/N | 0.1457 | likely_benign | 0.1786 | benign | -0.631 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| T/P | 0.1166 | likely_benign | 0.1387 | benign | -0.417 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.487893331 | None | None | N |
| T/Q | 0.3286 | likely_benign | 0.3503 | ambiguous | -0.54 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| T/R | 0.3132 | likely_benign | 0.3469 | ambiguous | -0.316 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.487639842 | None | None | N |
| T/S | 0.1801 | likely_benign | 0.2054 | benign | -1.025 | Destabilizing | 0.992 | D | 0.445 | neutral | N | 0.507616974 | None | None | N |
| T/V | 0.3859 | ambiguous | 0.4243 | ambiguous | -0.417 | Destabilizing | 0.997 | D | 0.449 | neutral | None | None | None | None | N |
| T/W | 0.9046 | likely_pathogenic | 0.9175 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/Y | 0.6347 | likely_pathogenic | 0.6851 | pathogenic | -0.643 | Destabilizing | 1.0 | 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.