Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31640 | 95143;95144;95145 | chr2:178546413;178546412;178546411 | chr2:179411140;179411139;179411138 |
| N2AB | 29999 | 90220;90221;90222 | chr2:178546413;178546412;178546411 | chr2:179411140;179411139;179411138 |
| N2A | 29072 | 87439;87440;87441 | chr2:178546413;178546412;178546411 | chr2:179411140;179411139;179411138 |
| N2B | 22575 | 67948;67949;67950 | chr2:178546413;178546412;178546411 | chr2:179411140;179411139;179411138 |
| Novex-1 | 22700 | 68323;68324;68325 | chr2:178546413;178546412;178546411 | chr2:179411140;179411139;179411138 |
| Novex-2 | 22767 | 68524;68525;68526 | chr2:178546413;178546412;178546411 | chr2:179411140;179411139;179411138 |
| 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/C | rs773967663  |
None | 1.0 | N | 0.679 | 0.458 | 0.639984247256 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/C | rs773967663 |
None | 1.0 | N | 0.679 | 0.458 | 0.639984247256 | gnomAD-4.0.0 | 6.84222E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99486E-07 | 0 | 0 |
| G/D | rs1697151144 |
None | 1.0 | N | 0.67 | 0.471 | 0.401753679984 | 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 |
| G/R | rs773967663 |
None | 1.0 | N | 0.657 | 0.493 | 0.546087423956 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.04083E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | -0.423 | 1.0 | N | 0.653 | 0.413 | 0.337378238328 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/S | None | -0.423 | 1.0 | N | 0.653 | 0.413 | 0.337378238328 | gnomAD-4.0.0 | 6.158E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09537E-06 | 0 | 0 |
| G/V | rs1697151144 |
None | 1.0 | N | 0.703 | 0.442 | 0.554156219314 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1697151144 |
None | 1.0 | N | 0.703 | 0.442 | 0.554156219314 | gnomAD-4.0.0 | 6.57445E-06 | None | None | None | None | I | None | 0 | 6.55308E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1243 | likely_benign | 0.1328 | benign | -0.329 | Destabilizing | 1.0 | D | 0.587 | neutral | N | 0.434220701 | None | None | I |
| G/C | 0.2128 | likely_benign | 0.2462 | benign | -0.904 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.498984256 | None | None | I |
| G/D | 0.4422 | ambiguous | 0.4973 | ambiguous | -0.598 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.468141274 | None | None | I |
| G/E | 0.3801 | ambiguous | 0.4344 | ambiguous | -0.741 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| G/F | 0.5517 | ambiguous | 0.5932 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| G/H | 0.4924 | ambiguous | 0.5613 | ambiguous | -0.686 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | I |
| G/I | 0.347 | ambiguous | 0.3812 | ambiguous | -0.372 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| G/K | 0.6481 | likely_pathogenic | 0.705 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| G/L | 0.4676 | ambiguous | 0.5118 | ambiguous | -0.372 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/M | 0.4935 | ambiguous | 0.5334 | ambiguous | -0.495 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| G/N | 0.4713 | ambiguous | 0.5081 | ambiguous | -0.599 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | I |
| G/P | 0.9879 | likely_pathogenic | 0.9883 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| G/Q | 0.4433 | ambiguous | 0.4998 | ambiguous | -0.847 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | I |
| G/R | 0.4531 | ambiguous | 0.5073 | ambiguous | -0.571 | Destabilizing | 1.0 | D | 0.657 | neutral | N | 0.409786404 | None | None | I |
| G/S | 0.1001 | likely_benign | 0.1093 | benign | -0.749 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.426715939 | None | None | I |
| G/T | 0.1537 | likely_benign | 0.1731 | benign | -0.818 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| G/V | 0.2514 | likely_benign | 0.2742 | benign | -0.322 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.47539532 | None | None | I |
| G/W | 0.4306 | ambiguous | 0.4909 | ambiguous | -1.159 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | I |
| G/Y | 0.4688 | ambiguous | 0.5137 | ambiguous | -0.797 | Destabilizing | 1.0 | D | 0.656 | 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.