Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16468 | 49627;49628;49629 | chr2:178613881;178613880;178613879 | chr2:179478608;179478607;179478606 |
| N2AB | 14827 | 44704;44705;44706 | chr2:178613881;178613880;178613879 | chr2:179478608;179478607;179478606 |
| N2A | 13900 | 41923;41924;41925 | chr2:178613881;178613880;178613879 | chr2:179478608;179478607;179478606 |
| N2B | 7403 | 22432;22433;22434 | chr2:178613881;178613880;178613879 | chr2:179478608;179478607;179478606 |
| Novex-1 | 7528 | 22807;22808;22809 | chr2:178613881;178613880;178613879 | chr2:179478608;179478607;179478606 |
| Novex-2 | 7595 | 23008;23009;23010 | chr2:178613881;178613880;178613879 | chr2:179478608;179478607;179478606 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1345455396  |
0.176 | 0.997 | N | 0.627 | 0.376 | 0.480349945188 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 5.86E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1345455396 |
0.176 | 0.997 | N | 0.627 | 0.376 | 0.480349945188 | gnomAD-4.0.0 | 4.79693E-06 | None | None | None | None | N | None | 0 | 4.49741E-05 | None | 0 | 0 | None | 0 | 0 | 4.50166E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.3377 | likely_benign | 0.3356 | benign | -0.799 | Destabilizing | 0.911 | D | 0.419 | neutral | N | 0.48541981 | None | None | N |
| T/C | 0.7107 | likely_pathogenic | 0.6525 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| T/D | 0.9091 | likely_pathogenic | 0.9178 | pathogenic | -1.609 | Destabilizing | 0.971 | D | 0.505 | neutral | None | None | None | None | N |
| T/E | 0.8738 | likely_pathogenic | 0.8865 | pathogenic | -1.527 | Destabilizing | 0.985 | D | 0.513 | neutral | None | None | None | None | N |
| T/F | 0.5871 | likely_pathogenic | 0.553 | ambiguous | -0.82 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/G | 0.7292 | likely_pathogenic | 0.7148 | pathogenic | -1.107 | Destabilizing | 0.985 | D | 0.531 | neutral | None | None | None | None | N |
| T/H | 0.6695 | likely_pathogenic | 0.6727 | pathogenic | -1.439 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| T/I | 0.4157 | ambiguous | 0.3931 | ambiguous | -0.05 | Destabilizing | 0.997 | D | 0.627 | neutral | N | 0.469572685 | None | None | N |
| T/K | 0.7724 | likely_pathogenic | 0.8137 | pathogenic | -0.777 | Destabilizing | 0.985 | D | 0.509 | neutral | None | None | None | None | N |
| T/L | 0.2443 | likely_benign | 0.2086 | benign | -0.05 | Destabilizing | 0.993 | D | 0.498 | neutral | None | None | None | None | N |
| T/M | 0.1714 | likely_benign | 0.1562 | benign | 0.126 | Stabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| T/N | 0.453 | ambiguous | 0.439 | ambiguous | -1.196 | Destabilizing | 0.4 | N | 0.347 | neutral | N | 0.485170764 | None | None | N |
| T/P | 0.9073 | likely_pathogenic | 0.9242 | pathogenic | -0.268 | Destabilizing | 0.997 | D | 0.627 | neutral | D | 0.634257955 | None | None | N |
| T/Q | 0.6923 | likely_pathogenic | 0.7006 | pathogenic | -1.303 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| T/R | 0.7337 | likely_pathogenic | 0.784 | pathogenic | -0.647 | Destabilizing | 0.998 | D | 0.626 | neutral | None | None | None | None | N |
| T/S | 0.2969 | likely_benign | 0.286 | benign | -1.292 | Destabilizing | 0.659 | D | 0.24 | neutral | N | 0.477547143 | None | None | N |
| T/V | 0.3095 | likely_benign | 0.2714 | benign | -0.268 | Destabilizing | 0.993 | D | 0.437 | neutral | None | None | None | None | N |
| T/W | 0.8748 | likely_pathogenic | 0.8667 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| T/Y | 0.6575 | likely_pathogenic | 0.6435 | pathogenic | -0.544 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | 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.