Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2957 | 9094;9095;9096 | chr2:178769712;178769711;178769710 | chr2:179634439;179634438;179634437 |
| N2AB | 2957 | 9094;9095;9096 | chr2:178769712;178769711;178769710 | chr2:179634439;179634438;179634437 |
| N2A | 2957 | 9094;9095;9096 | chr2:178769712;178769711;178769710 | chr2:179634439;179634438;179634437 |
| N2B | 2911 | 8956;8957;8958 | chr2:178769712;178769711;178769710 | chr2:179634439;179634438;179634437 |
| Novex-1 | 2911 | 8956;8957;8958 | chr2:178769712;178769711;178769710 | chr2:179634439;179634438;179634437 |
| Novex-2 | 2911 | 8956;8957;8958 | chr2:178769712;178769711;178769710 | chr2:179634439;179634438;179634437 |
| Novex-3 | 2957 | 9094;9095;9096 | chr2:178769712;178769711;178769710 | chr2:179634439;179634438;179634437 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs138465450  |
None | 0.999 | N | 0.671 | 0.662 | None | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 6.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs138465450 |
None | 0.999 | N | 0.671 | 0.662 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/D | rs138465450 |
None | 0.999 | N | 0.671 | 0.662 | None | gnomAD-4.0.0 | 5.12543E-06 | None | None | None | None | N | None | 5.07614E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84446E-05 |
| N/S | None | None | 0.999 | N | 0.653 | 0.532 | 0.300449992093 | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85843E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.5017 | ambiguous | 0.5587 | ambiguous | -0.12 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| N/C | 0.7115 | likely_pathogenic | 0.7004 | pathogenic | 0.013 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| N/D | 0.2162 | likely_benign | 0.2304 | benign | -0.121 | Destabilizing | 0.999 | D | 0.671 | neutral | N | 0.516889656 | None | None | N |
| N/E | 0.5872 | likely_pathogenic | 0.6346 | pathogenic | -0.194 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| N/F | 0.8857 | likely_pathogenic | 0.8934 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| N/G | 0.4951 | ambiguous | 0.5536 | ambiguous | -0.171 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| N/H | 0.2362 | likely_benign | 0.2695 | benign | -0.185 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.592107574 | None | None | N |
| N/I | 0.6145 | likely_pathogenic | 0.5993 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.652 | neutral | D | 0.549194849 | None | None | N |
| N/K | 0.4713 | ambiguous | 0.5309 | ambiguous | -0.036 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.577810931 | None | None | N |
| N/L | 0.6166 | likely_pathogenic | 0.6247 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| N/M | 0.6271 | likely_pathogenic | 0.6524 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| N/P | 0.8381 | likely_pathogenic | 0.8718 | pathogenic | -0.075 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| N/Q | 0.5329 | ambiguous | 0.6043 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| N/R | 0.5427 | ambiguous | 0.5924 | pathogenic | 0.054 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| N/S | 0.1266 | likely_benign | 0.1341 | benign | -0.1 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.506231474 | None | None | N |
| N/T | 0.2873 | likely_benign | 0.2998 | benign | -0.085 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | D | 0.551714825 | None | None | N |
| N/V | 0.6221 | likely_pathogenic | 0.6348 | pathogenic | -0.075 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| N/W | 0.9524 | likely_pathogenic | 0.9572 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| N/Y | 0.4972 | ambiguous | 0.4905 | ambiguous | -0.618 | Destabilizing | 1.0 | D | 0.67 | neutral | D | 0.664748572 | 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.