Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8061 | 24406;24407;24408 | chr2:178719209;178719208;178719207 | chr2:179583936;179583935;179583934 |
| N2AB | 7744 | 23455;23456;23457 | chr2:178719209;178719208;178719207 | chr2:179583936;179583935;179583934 |
| N2A | 6817 | 20674;20675;20676 | chr2:178719209;178719208;178719207 | chr2:179583936;179583935;179583934 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.999 | D | 0.635 | 0.558 | 0.416833835346 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8586E-06 | 0 | 0 |
| N/K | rs1376169033  |
None | 1.0 | D | 0.745 | 0.39 | 0.137902524267 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs1376169033 |
None | 1.0 | D | 0.745 | 0.39 | 0.137902524267 | gnomAD-4.0.0 | 6.57341E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47024E-05 | 0 | 0 |
| N/S | rs752499533 |
-0.65 | 0.999 | N | 0.599 | 0.527 | 0.278968121808 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 8.94E-06 | 0 |
| N/S | rs752499533 |
-0.65 | 0.999 | N | 0.599 | 0.527 | 0.278968121808 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs752499533 |
-0.65 | 0.999 | N | 0.599 | 0.527 | 0.278968121808 | gnomAD-4.0.0 | 4.33808E-06 | None | None | None | None | I | None | 0 | 1.66683E-05 | None | 0 | 0 | None | 0 | 0 | 8.47637E-07 | 5.49089E-05 | 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 | 0.9584 | likely_pathogenic | 0.9767 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| N/C | 0.944 | likely_pathogenic | 0.9602 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| N/D | 0.9023 | likely_pathogenic | 0.9347 | pathogenic | -0.958 | Destabilizing | 0.999 | D | 0.635 | neutral | D | 0.559006905 | None | None | I |
| N/E | 0.9925 | likely_pathogenic | 0.9953 | pathogenic | -0.922 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | I |
| N/F | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| N/G | 0.9146 | likely_pathogenic | 0.9447 | pathogenic | -1.084 | Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | I |
| N/H | 0.9173 | likely_pathogenic | 0.9504 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.560274353 | None | None | I |
| N/I | 0.9722 | likely_pathogenic | 0.9851 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.560527842 | None | None | I |
| N/K | 0.9936 | likely_pathogenic | 0.9961 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.559767373 | None | None | I |
| N/L | 0.9497 | likely_pathogenic | 0.9629 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| N/M | 0.9704 | likely_pathogenic | 0.983 | pathogenic | 0.383 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| N/P | 0.9875 | likely_pathogenic | 0.9922 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| N/Q | 0.9929 | likely_pathogenic | 0.9962 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| N/R | 0.9918 | likely_pathogenic | 0.9943 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| N/S | 0.3698 | ambiguous | 0.4696 | ambiguous | -0.722 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.500553083 | None | None | I |
| N/T | 0.7839 | likely_pathogenic | 0.8519 | pathogenic | -0.528 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | D | 0.529799834 | None | None | I |
| N/V | 0.9536 | likely_pathogenic | 0.9734 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| N/W | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| N/Y | 0.9771 | likely_pathogenic | 0.985 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.548918047 | 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.