Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22497 | 67714;67715;67716 | chr2:178579708;178579707;178579706 | chr2:179444435;179444434;179444433 |
| N2AB | 20856 | 62791;62792;62793 | chr2:178579708;178579707;178579706 | chr2:179444435;179444434;179444433 |
| N2A | 19929 | 60010;60011;60012 | chr2:178579708;178579707;178579706 | chr2:179444435;179444434;179444433 |
| N2B | 13432 | 40519;40520;40521 | chr2:178579708;178579707;178579706 | chr2:179444435;179444434;179444433 |
| Novex-1 | 13557 | 40894;40895;40896 | chr2:178579708;178579707;178579706 | chr2:179444435;179444434;179444433 |
| Novex-2 | 13624 | 41095;41096;41097 | chr2:178579708;178579707;178579706 | chr2:179444435;179444434;179444433 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1282105128  |
-0.828 | 1.0 | N | 0.731 | 0.608 | 0.602320007227 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs1282105128 |
-0.828 | 1.0 | N | 0.731 | 0.608 | 0.602320007227 | gnomAD-4.0.0 | 1.59225E-06 | None | None | None | None | N | None | 0 | 2.28739E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9635 | likely_pathogenic | 0.9519 | pathogenic | -2.902 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/C | 0.9858 | likely_pathogenic | 0.9827 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | D | 0.526899772 | None | None | N |
| W/D | 0.9874 | likely_pathogenic | 0.9866 | pathogenic | -1.688 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/E | 0.9866 | likely_pathogenic | 0.9854 | pathogenic | -1.62 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| W/F | 0.498 | ambiguous | 0.458 | ambiguous | -1.777 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| W/G | 0.8807 | likely_pathogenic | 0.853 | pathogenic | -3.098 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.499387768 | None | None | N |
| W/H | 0.9615 | likely_pathogenic | 0.9542 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| W/I | 0.9548 | likely_pathogenic | 0.9437 | pathogenic | -2.194 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/K | 0.9911 | likely_pathogenic | 0.9905 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| W/L | 0.8828 | likely_pathogenic | 0.8625 | pathogenic | -2.194 | Highly Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.50224815 | None | None | N |
| W/M | 0.9647 | likely_pathogenic | 0.9569 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| W/N | 0.9818 | likely_pathogenic | 0.9774 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| W/P | 0.9692 | likely_pathogenic | 0.9616 | pathogenic | -2.446 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9916 | likely_pathogenic | 0.9897 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| W/R | 0.9867 | likely_pathogenic | 0.9854 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.496767648 | None | None | N |
| W/S | 0.9387 | likely_pathogenic | 0.9261 | pathogenic | -2.143 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.497866831 | None | None | N |
| W/T | 0.9606 | likely_pathogenic | 0.9527 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| W/V | 0.9512 | likely_pathogenic | 0.9417 | pathogenic | -2.446 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/Y | 0.6349 | likely_pathogenic | 0.5992 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.545 | 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.