Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25360 | 76303;76304;76305 | chr2:178570054;178570053;178570052 | chr2:179434781;179434780;179434779 |
| N2AB | 23719 | 71380;71381;71382 | chr2:178570054;178570053;178570052 | chr2:179434781;179434780;179434779 |
| N2A | 22792 | 68599;68600;68601 | chr2:178570054;178570053;178570052 | chr2:179434781;179434780;179434779 |
| N2B | 16295 | 49108;49109;49110 | chr2:178570054;178570053;178570052 | chr2:179434781;179434780;179434779 |
| Novex-1 | 16420 | 49483;49484;49485 | chr2:178570054;178570053;178570052 | chr2:179434781;179434780;179434779 |
| Novex-2 | 16487 | 49684;49685;49686 | chr2:178570054;178570053;178570052 | chr2:179434781;179434780;179434779 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1158176682  |
None | 0.521 | N | 0.425 | 0.121 | 0.250039746154 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs1158176682 |
None | 0.521 | N | 0.425 | 0.121 | 0.250039746154 | gnomAD-4.0.0 | 6.57583E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47115E-05 | 0 | 0 |
| G/R | None | None | 0.792 | N | 0.427 | 0.178 | 0.373537453441 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.091 | likely_benign | 0.0976 | benign | -0.348 | Destabilizing | 0.309 | N | 0.357 | neutral | N | 0.391301351 | None | None | I |
| G/C | 0.1374 | likely_benign | 0.1557 | benign | -0.878 | Destabilizing | 0.996 | D | 0.488 | neutral | None | None | None | None | I |
| G/D | 0.3629 | ambiguous | 0.3296 | benign | -0.485 | Destabilizing | 0.742 | D | 0.365 | neutral | None | None | None | None | I |
| G/E | 0.3424 | ambiguous | 0.3147 | benign | -0.573 | Destabilizing | 0.521 | D | 0.425 | neutral | N | 0.401688916 | None | None | I |
| G/F | 0.5246 | ambiguous | 0.5602 | ambiguous | -0.777 | Destabilizing | 0.984 | D | 0.498 | neutral | None | None | None | None | I |
| G/H | 0.3386 | likely_benign | 0.335 | benign | -0.581 | Destabilizing | 0.987 | D | 0.451 | neutral | None | None | None | None | I |
| G/I | 0.2581 | likely_benign | 0.2875 | benign | -0.214 | Destabilizing | 0.953 | D | 0.506 | neutral | None | None | None | None | I |
| G/K | 0.4729 | ambiguous | 0.4327 | ambiguous | -0.889 | Destabilizing | 0.009 | N | 0.299 | neutral | None | None | None | None | I |
| G/L | 0.2874 | likely_benign | 0.3149 | benign | -0.214 | Destabilizing | 0.742 | D | 0.436 | neutral | None | None | None | None | I |
| G/M | 0.3387 | likely_benign | 0.3787 | ambiguous | -0.488 | Destabilizing | 0.996 | D | 0.481 | neutral | None | None | None | None | I |
| G/N | 0.1931 | likely_benign | 0.1996 | benign | -0.647 | Destabilizing | 0.742 | D | 0.344 | neutral | None | None | None | None | I |
| G/P | 0.3185 | likely_benign | 0.3369 | benign | -0.221 | Destabilizing | 0.953 | D | 0.428 | neutral | None | None | None | None | I |
| G/Q | 0.3351 | likely_benign | 0.3297 | benign | -0.809 | Destabilizing | 0.91 | D | 0.429 | neutral | None | None | None | None | I |
| G/R | 0.3698 | ambiguous | 0.3116 | benign | -0.536 | Destabilizing | 0.792 | D | 0.427 | neutral | N | 0.378777558 | None | None | I |
| G/S | 0.0697 | likely_benign | 0.0685 | benign | -0.869 | Destabilizing | 0.016 | N | 0.115 | neutral | None | None | None | None | I |
| G/T | 0.0891 | likely_benign | 0.0912 | benign | -0.864 | Destabilizing | 0.59 | D | 0.414 | neutral | None | None | None | None | I |
| G/V | 0.1557 | likely_benign | 0.1718 | benign | -0.221 | Destabilizing | 0.884 | D | 0.452 | neutral | N | 0.4484455 | None | None | I |
| G/W | 0.4025 | ambiguous | 0.3911 | ambiguous | -1.033 | Destabilizing | 0.996 | D | 0.556 | neutral | None | None | None | None | I |
| G/Y | 0.368 | ambiguous | 0.379 | ambiguous | -0.629 | Destabilizing | 0.984 | D | 0.499 | neutral | None | None | None | None | I |
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.