Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30536 | 91831;91832;91833 | chr2:178550232;178550231;178550230 | chr2:179414959;179414958;179414957 |
| N2AB | 28895 | 86908;86909;86910 | chr2:178550232;178550231;178550230 | chr2:179414959;179414958;179414957 |
| N2A | 27968 | 84127;84128;84129 | chr2:178550232;178550231;178550230 | chr2:179414959;179414958;179414957 |
| N2B | 21471 | 64636;64637;64638 | chr2:178550232;178550231;178550230 | chr2:179414959;179414958;179414957 |
| Novex-1 | 21596 | 65011;65012;65013 | chr2:178550232;178550231;178550230 | chr2:179414959;179414958;179414957 |
| Novex-2 | 21663 | 65212;65213;65214 | chr2:178550232;178550231;178550230 | chr2:179414959;179414958;179414957 |
| 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/F | rs1177911560  |
-0.647 | 0.497 | N | 0.553 | 0.186 | 0.0762999501168 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs1177911560 |
-0.647 | 0.497 | N | 0.553 | 0.186 | 0.0762999501168 | gnomAD-4.0.0 | 1.59241E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77346E-05 | 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 | 0.2882 | likely_benign | 0.3811 | ambiguous | -1.888 | Destabilizing | 0.157 | N | 0.511 | neutral | None | None | None | None | I |
| L/C | 0.4491 | ambiguous | 0.5392 | ambiguous | -1.347 | Destabilizing | 0.909 | D | 0.631 | neutral | None | None | None | None | I |
| L/D | 0.7174 | likely_pathogenic | 0.8206 | pathogenic | -1.449 | Destabilizing | 0.726 | D | 0.702 | prob.neutral | None | None | None | None | I |
| L/E | 0.4223 | ambiguous | 0.5321 | ambiguous | -1.278 | Destabilizing | 0.726 | D | 0.696 | prob.neutral | None | None | None | None | I |
| L/F | 0.1348 | likely_benign | 0.1975 | benign | -0.992 | Destabilizing | 0.497 | N | 0.553 | neutral | N | 0.471215929 | None | None | I |
| L/G | 0.6182 | likely_pathogenic | 0.7557 | pathogenic | -2.348 | Highly Destabilizing | 0.726 | D | 0.684 | prob.neutral | None | None | None | None | I |
| L/H | 0.2663 | likely_benign | 0.3775 | ambiguous | -1.435 | Destabilizing | 0.958 | D | 0.724 | prob.delet. | N | 0.466696479 | None | None | I |
| L/I | 0.0713 | likely_benign | 0.0778 | benign | -0.611 | Destabilizing | 0.001 | N | 0.313 | neutral | N | 0.491243767 | None | None | I |
| L/K | 0.2902 | likely_benign | 0.359 | ambiguous | -1.398 | Destabilizing | 0.726 | D | 0.659 | neutral | None | None | None | None | I |
| L/M | 0.0948 | likely_benign | 0.1061 | benign | -0.688 | Destabilizing | 0.567 | D | 0.566 | neutral | None | None | None | None | I |
| L/N | 0.4022 | ambiguous | 0.5004 | ambiguous | -1.632 | Destabilizing | 0.726 | D | 0.702 | prob.neutral | None | None | None | None | I |
| L/P | 0.7112 | likely_pathogenic | 0.8182 | pathogenic | -1.013 | Destabilizing | 0.859 | D | 0.703 | prob.neutral | N | 0.507766834 | None | None | I |
| L/Q | 0.1889 | likely_benign | 0.2499 | benign | -1.531 | Destabilizing | 0.89 | D | 0.676 | prob.neutral | None | None | None | None | I |
| L/R | 0.2652 | likely_benign | 0.3613 | ambiguous | -1.096 | Destabilizing | 0.667 | D | 0.668 | neutral | N | 0.488902111 | None | None | I |
| L/S | 0.3833 | ambiguous | 0.5214 | ambiguous | -2.347 | Highly Destabilizing | 0.396 | N | 0.565 | neutral | None | None | None | None | I |
| L/T | 0.2438 | likely_benign | 0.3068 | benign | -2.024 | Highly Destabilizing | 0.011 | N | 0.287 | neutral | None | None | None | None | I |
| L/V | 0.0793 | likely_benign | 0.0927 | benign | -1.013 | Destabilizing | 0.001 | N | 0.241 | neutral | N | 0.46678804 | None | None | I |
| L/W | 0.3506 | ambiguous | 0.4892 | ambiguous | -1.166 | Destabilizing | 0.968 | D | 0.701 | prob.neutral | None | None | None | None | I |
| L/Y | 0.344 | ambiguous | 0.4685 | ambiguous | -0.897 | Destabilizing | 0.726 | D | 0.607 | 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.