Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26314 | 79165;79166;79167 | chr2:178567192;178567191;178567190 | chr2:179431919;179431918;179431917 |
| N2AB | 24673 | 74242;74243;74244 | chr2:178567192;178567191;178567190 | chr2:179431919;179431918;179431917 |
| N2A | 23746 | 71461;71462;71463 | chr2:178567192;178567191;178567190 | chr2:179431919;179431918;179431917 |
| N2B | 17249 | 51970;51971;51972 | chr2:178567192;178567191;178567190 | chr2:179431919;179431918;179431917 |
| Novex-1 | 17374 | 52345;52346;52347 | chr2:178567192;178567191;178567190 | chr2:179431919;179431918;179431917 |
| Novex-2 | 17441 | 52546;52547;52548 | chr2:178567192;178567191;178567190 | chr2:179431919;179431918;179431917 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1214319496  |
None | 1.0 | N | 0.687 | 0.576 | 0.469826472337 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs1214319496 |
None | 1.0 | N | 0.687 | 0.576 | 0.469826472337 | gnomAD-4.0.0 | 2.56445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79076E-06 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.678 | 0.337 | 0.369867359543 | gnomAD-4.0.0 | 6.84539E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99828E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7052 | likely_pathogenic | 0.7712 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.496020406 | None | None | N |
| D/C | 0.9475 | likely_pathogenic | 0.9496 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| D/E | 0.7203 | likely_pathogenic | 0.7767 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.435 | neutral | N | 0.492208518 | None | None | N |
| D/F | 0.9569 | likely_pathogenic | 0.9646 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| D/G | 0.6361 | likely_pathogenic | 0.7119 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.515645598 | None | None | N |
| D/H | 0.8228 | likely_pathogenic | 0.8414 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.510770526 | None | None | N |
| D/I | 0.8945 | likely_pathogenic | 0.9168 | pathogenic | 0.404 | Stabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| D/K | 0.9193 | likely_pathogenic | 0.9396 | pathogenic | 0.114 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| D/L | 0.895 | likely_pathogenic | 0.9228 | pathogenic | 0.404 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/M | 0.9415 | likely_pathogenic | 0.9574 | pathogenic | 0.841 | Stabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| D/N | 0.1639 | likely_benign | 0.1893 | benign | -0.107 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.499607826 | None | None | N |
| D/P | 0.965 | likely_pathogenic | 0.9751 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/Q | 0.8853 | likely_pathogenic | 0.9156 | pathogenic | -0.052 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/R | 0.9287 | likely_pathogenic | 0.9482 | pathogenic | -0.016 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| D/S | 0.4202 | ambiguous | 0.4982 | ambiguous | -0.234 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/T | 0.5809 | likely_pathogenic | 0.6895 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| D/V | 0.7713 | likely_pathogenic | 0.8192 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.519974011 | None | None | N |
| D/W | 0.9906 | likely_pathogenic | 0.9914 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| D/Y | 0.7437 | likely_pathogenic | 0.7855 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.618 | neutral | D | 0.52963525 | 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.