Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27313 | 82162;82163;82164 | chr2:178564195;178564194;178564193 | chr2:179428922;179428921;179428920 |
| N2AB | 25672 | 77239;77240;77241 | chr2:178564195;178564194;178564193 | chr2:179428922;179428921;179428920 |
| N2A | 24745 | 74458;74459;74460 | chr2:178564195;178564194;178564193 | chr2:179428922;179428921;179428920 |
| N2B | 18248 | 54967;54968;54969 | chr2:178564195;178564194;178564193 | chr2:179428922;179428921;179428920 |
| Novex-1 | 18373 | 55342;55343;55344 | chr2:178564195;178564194;178564193 | chr2:179428922;179428921;179428920 |
| Novex-2 | 18440 | 55543;55544;55545 | chr2:178564195;178564194;178564193 | chr2:179428922;179428921;179428920 |
| 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 | rs199670463  |
-0.493 | 1.0 | N | 0.713 | 0.421 | 0.456830177556 | gnomAD-2.1.1 | 5.83301E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.13072E-03 | None | 0 | 3.92E-05 | 1.40528E-04 |
| G/E | rs199670463 |
-0.493 | 1.0 | N | 0.713 | 0.421 | 0.456830177556 | gnomAD-3.1.2 | 2.16974E-04 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 5.59238E-03 | 0 |
| G/E | rs199670463 |
-0.493 | 1.0 | N | 0.713 | 0.421 | 0.456830177556 | 1000 genomes | 1.39776E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 7.2E-03 | None |
| G/E | rs199670463 |
-0.493 | 1.0 | N | 0.713 | 0.421 | 0.456830177556 | gnomAD-4.0.0 | 3.30932E-04 | None | None | None | None | N | None | 2.66596E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08584E-05 | 4.9406E-03 | 3.52146E-04 |
| G/R | rs786205298 |
None | 1.0 | N | 0.709 | 0.494 | 0.632259734576 | gnomAD-4.0.0 | 6.84274E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2132 | likely_benign | 0.2273 | benign | -0.161 | Destabilizing | 0.999 | D | 0.533 | neutral | N | 0.504472968 | None | None | N |
| G/C | 0.2551 | likely_benign | 0.2761 | benign | -0.88 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/D | 0.1447 | likely_benign | 0.1374 | benign | -0.4 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/E | 0.1676 | likely_benign | 0.1587 | benign | -0.562 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.4780866 | None | None | N |
| G/F | 0.5926 | likely_pathogenic | 0.6247 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/H | 0.3286 | likely_benign | 0.3432 | ambiguous | -0.319 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| G/I | 0.3882 | ambiguous | 0.4369 | ambiguous | -0.399 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/K | 0.308 | likely_benign | 0.3105 | benign | -0.59 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/L | 0.4935 | ambiguous | 0.5225 | ambiguous | -0.399 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/M | 0.471 | ambiguous | 0.5038 | ambiguous | -0.512 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/N | 0.17 | likely_benign | 0.1669 | benign | -0.29 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/P | 0.9125 | likely_pathogenic | 0.9311 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/Q | 0.2294 | likely_benign | 0.231 | benign | -0.547 | Destabilizing | 0.997 | D | 0.551 | neutral | None | None | None | None | N |
| G/R | 0.2184 | likely_benign | 0.2273 | benign | -0.202 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.489736075 | None | None | N |
| G/S | 0.1036 | likely_benign | 0.1067 | benign | -0.441 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/T | 0.2309 | likely_benign | 0.2489 | benign | -0.533 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| G/V | 0.3296 | likely_benign | 0.3667 | ambiguous | -0.292 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.531984972 | None | None | N |
| G/W | 0.412 | ambiguous | 0.4425 | ambiguous | -1.055 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/Y | 0.419 | ambiguous | 0.4473 | ambiguous | -0.722 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | 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.