Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 180 | 763;764;765 | chr2:178800440;178800439;178800438 | chr2:179665167;179665166;179665165 |
| N2AB | 180 | 763;764;765 | chr2:178800440;178800439;178800438 | chr2:179665167;179665166;179665165 |
| N2A | 180 | 763;764;765 | chr2:178800440;178800439;178800438 | chr2:179665167;179665166;179665165 |
| N2B | 180 | 763;764;765 | chr2:178800440;178800439;178800438 | chr2:179665167;179665166;179665165 |
| Novex-1 | 180 | 763;764;765 | chr2:178800440;178800439;178800438 | chr2:179665167;179665166;179665165 |
| Novex-2 | 180 | 763;764;765 | chr2:178800440;178800439;178800438 | chr2:179665167;179665166;179665165 |
| Novex-3 | 180 | 763;764;765 | chr2:178800440;178800439;178800438 | chr2:179665167;179665166;179665165 |
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/S | rs568119356  |
-0.829 | 0.999 | D | 0.575 | 0.642 | 0.441636318388 | gnomAD-2.1.1 | 2.39E-05 | None | None | None | -1.301(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 1.63335E-04 | None | 0 | 8.8E-06 | 0 |
| N/S | rs568119356 |
-0.829 | 0.999 | D | 0.575 | 0.642 | 0.441636318388 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | -1.301(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14079E-04 | 0 |
| N/S | rs568119356 |
-0.829 | 0.999 | D | 0.575 | 0.642 | 0.441636318388 | 1000 genomes | 3.99361E-04 | None | None | None | -1.301(TCAP) | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| N/S | rs568119356 |
-0.829 | 0.999 | D | 0.575 | 0.642 | 0.441636318388 | gnomAD-4.0.0 | 1.23903E-05 | None | None | None | -1.301(TCAP) | N | None | 1.3323E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2373E-06 | 1.53708E-04 | 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 | 0.9756 | likely_pathogenic | 0.9902 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | -0.799(TCAP) | N |
| N/C | 0.975 | likely_pathogenic | 0.9856 | pathogenic | -0.196 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | -1.542(TCAP) | N |
| N/D | 0.8925 | likely_pathogenic | 0.9464 | pathogenic | -1.429 | Destabilizing | 0.999 | D | 0.607 | neutral | D | 0.850975543 | None | -0.491(TCAP) | N |
| N/E | 0.9937 | likely_pathogenic | 0.9973 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | -0.65(TCAP) | N |
| N/F | 0.9976 | likely_pathogenic | 0.9989 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | -1.001(TCAP) | N |
| N/G | 0.9579 | likely_pathogenic | 0.9802 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.549 | neutral | None | None | None | -0.745(TCAP) | N |
| N/H | 0.9502 | likely_pathogenic | 0.9752 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.849534724 | None | -0.305(TCAP) | N |
| N/I | 0.9847 | likely_pathogenic | 0.9931 | pathogenic | -0.02 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.849246012 | None | -1.018(TCAP) | N |
| N/K | 0.9961 | likely_pathogenic | 0.9984 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.850172442 | None | -1.822(TCAP) | N |
| N/L | 0.9585 | likely_pathogenic | 0.979 | pathogenic | -0.02 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | -1.018(TCAP) | N |
| N/M | 0.988 | likely_pathogenic | 0.994 | pathogenic | 0.5 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | -0.873(TCAP) | N |
| N/P | 0.9924 | likely_pathogenic | 0.9967 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | -0.937(TCAP) | N |
| N/Q | 0.9937 | likely_pathogenic | 0.9973 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | -1.172(TCAP) | N |
| N/R | 0.9934 | likely_pathogenic | 0.9969 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | -1.77(TCAP) | N |
| N/S | 0.5297 | ambiguous | 0.6725 | pathogenic | -0.932 | Destabilizing | 0.999 | D | 0.575 | neutral | D | 0.672246456 | None | -1.301(TCAP) | N |
| N/T | 0.8689 | likely_pathogenic | 0.9223 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | D | 0.798506249 | None | -1.421(TCAP) | N |
| N/V | 0.9785 | likely_pathogenic | 0.9893 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | -0.937(TCAP) | N |
| N/W | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | -1.066(TCAP) | N |
| N/Y | 0.9781 | likely_pathogenic | 0.9896 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.849246012 | None | -0.809(TCAP) | 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.