Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24470 | 73633;73634;73635 | chr2:178572724;178572723;178572722 | chr2:179437451;179437450;179437449 |
| N2AB | 22829 | 68710;68711;68712 | chr2:178572724;178572723;178572722 | chr2:179437451;179437450;179437449 |
| N2A | 21902 | 65929;65930;65931 | chr2:178572724;178572723;178572722 | chr2:179437451;179437450;179437449 |
| N2B | 15405 | 46438;46439;46440 | chr2:178572724;178572723;178572722 | chr2:179437451;179437450;179437449 |
| Novex-1 | 15530 | 46813;46814;46815 | chr2:178572724;178572723;178572722 | chr2:179437451;179437450;179437449 |
| Novex-2 | 15597 | 47014;47015;47016 | chr2:178572724;178572723;178572722 | chr2:179437451;179437450;179437449 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | rs1161493702  |
-0.393 | 0.991 | N | 0.629 | 0.574 | 0.804186511895 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/S | rs1161493702 |
-0.393 | 0.991 | N | 0.629 | 0.574 | 0.804186511895 | gnomAD-4.0.0 | 1.59188E-06 | None | None | None | None | N | None | 5.66187E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2055 | likely_benign | 0.233 | benign | -1.49 | Destabilizing | 0.953 | D | 0.467 | neutral | None | None | None | None | N |
| L/C | 0.5812 | likely_pathogenic | 0.6377 | pathogenic | -1.115 | Destabilizing | 0.999 | D | 0.581 | neutral | None | None | None | None | N |
| L/D | 0.6778 | likely_pathogenic | 0.7347 | pathogenic | -0.677 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | None | None | N |
| L/E | 0.4594 | ambiguous | 0.4937 | ambiguous | -0.656 | Destabilizing | 0.998 | D | 0.669 | neutral | None | None | None | None | N |
| L/F | 0.1696 | likely_benign | 0.1827 | benign | -0.985 | Destabilizing | 0.982 | D | 0.563 | neutral | N | 0.515615508 | None | None | N |
| L/G | 0.453 | ambiguous | 0.5153 | ambiguous | -1.814 | Destabilizing | 0.993 | D | 0.666 | neutral | None | None | None | None | N |
| L/H | 0.3628 | ambiguous | 0.4037 | ambiguous | -0.961 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| L/I | 0.099 | likely_benign | 0.0982 | benign | -0.674 | Destabilizing | 0.1 | N | 0.289 | neutral | N | 0.47795841 | None | None | N |
| L/K | 0.4032 | ambiguous | 0.4324 | ambiguous | -1.049 | Destabilizing | 0.993 | D | 0.631 | neutral | None | None | None | None | N |
| L/M | 0.1126 | likely_benign | 0.1172 | benign | -0.717 | Destabilizing | 0.807 | D | 0.396 | neutral | None | None | None | None | N |
| L/N | 0.4049 | ambiguous | 0.4723 | ambiguous | -0.91 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| L/P | 0.1696 | likely_benign | 0.1918 | benign | -0.915 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | None | None | N |
| L/Q | 0.2744 | likely_benign | 0.301 | benign | -0.999 | Destabilizing | 0.993 | D | 0.642 | neutral | None | None | None | None | N |
| L/R | 0.3519 | ambiguous | 0.3829 | ambiguous | -0.559 | Destabilizing | 0.993 | D | 0.642 | neutral | None | None | None | None | N |
| L/S | 0.2673 | likely_benign | 0.3032 | benign | -1.545 | Destabilizing | 0.991 | D | 0.629 | neutral | N | 0.440368388 | None | None | N |
| L/T | 0.1656 | likely_benign | 0.1802 | benign | -1.389 | Destabilizing | 0.986 | D | 0.566 | neutral | None | None | None | None | N |
| L/V | 0.0954 | likely_benign | 0.0997 | benign | -0.915 | Destabilizing | 0.76 | D | 0.422 | neutral | N | 0.471264511 | None | None | N |
| L/W | 0.3414 | ambiguous | 0.3616 | ambiguous | -1.024 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| L/Y | 0.4703 | ambiguous | 0.5113 | ambiguous | -0.813 | Destabilizing | 0.998 | D | 0.588 | neutral | 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.