Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27741 | 83446;83447;83448 | chr2:178562911;178562910;178562909 | chr2:179427638;179427637;179427636 |
| N2AB | 26100 | 78523;78524;78525 | chr2:178562911;178562910;178562909 | chr2:179427638;179427637;179427636 |
| N2A | 25173 | 75742;75743;75744 | chr2:178562911;178562910;178562909 | chr2:179427638;179427637;179427636 |
| N2B | 18676 | 56251;56252;56253 | chr2:178562911;178562910;178562909 | chr2:179427638;179427637;179427636 |
| Novex-1 | 18801 | 56626;56627;56628 | chr2:178562911;178562910;178562909 | chr2:179427638;179427637;179427636 |
| Novex-2 | 18868 | 56827;56828;56829 | chr2:178562911;178562910;178562909 | chr2:179427638;179427637;179427636 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1368077967  |
-1.222 | 0.98 | D | 0.555 | 0.425 | 0.324436698001 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/G | rs1368077967 |
-1.222 | 0.98 | D | 0.555 | 0.425 | 0.324436698001 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| S/G | rs1368077967 |
-1.222 | 0.98 | D | 0.555 | 0.425 | 0.324436698001 | gnomAD-4.0.0 | 5.12601E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.36049E-05 | 0 |
| S/N | None | None | 0.98 | N | 0.535 | 0.307 | 0.32082282376 | gnomAD-4.0.0 | 1.59189E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| S/R | rs1368077967 |
None | 0.994 | N | 0.651 | 0.578 | 0.401612077098 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1368077967 |
None | 0.994 | N | 0.651 | 0.578 | 0.401612077098 | gnomAD-4.0.0 | 6.40751E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 9.72621E-05 | None | 0 | 0 | 0 | 0 | 2.8456E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1263 | likely_benign | 0.1175 | benign | -0.689 | Destabilizing | 0.931 | D | 0.427 | neutral | None | None | None | None | I |
| S/C | 0.1957 | likely_benign | 0.1745 | benign | -0.452 | Destabilizing | 1.0 | D | 0.658 | neutral | N | 0.516931451 | None | None | I |
| S/D | 0.9734 | likely_pathogenic | 0.9704 | pathogenic | 0.153 | Stabilizing | 0.985 | D | 0.509 | neutral | None | None | None | None | I |
| S/E | 0.9733 | likely_pathogenic | 0.9711 | pathogenic | 0.119 | Stabilizing | 0.985 | D | 0.501 | neutral | None | None | None | None | I |
| S/F | 0.8218 | likely_pathogenic | 0.7899 | pathogenic | -1.019 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | I |
| S/G | 0.1799 | likely_benign | 0.1602 | benign | -0.891 | Destabilizing | 0.98 | D | 0.555 | neutral | D | 0.533560976 | None | None | I |
| S/H | 0.8921 | likely_pathogenic | 0.8733 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| S/I | 0.7662 | likely_pathogenic | 0.7389 | pathogenic | -0.267 | Destabilizing | 0.989 | D | 0.669 | neutral | D | 0.527780778 | None | None | I |
| S/K | 0.9893 | likely_pathogenic | 0.9869 | pathogenic | -0.578 | Destabilizing | 0.97 | D | 0.505 | neutral | None | None | None | None | I |
| S/L | 0.4305 | ambiguous | 0.3975 | ambiguous | -0.267 | Destabilizing | 0.97 | D | 0.614 | neutral | None | None | None | None | I |
| S/M | 0.5306 | ambiguous | 0.5023 | ambiguous | 0.025 | Stabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| S/N | 0.661 | likely_pathogenic | 0.6118 | pathogenic | -0.458 | Destabilizing | 0.98 | D | 0.535 | neutral | N | 0.511625079 | None | None | I |
| S/P | 0.9829 | likely_pathogenic | 0.9792 | pathogenic | -0.376 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | I |
| S/Q | 0.9273 | likely_pathogenic | 0.9194 | pathogenic | -0.641 | Destabilizing | 0.999 | D | 0.533 | neutral | None | None | None | None | I |
| S/R | 0.9767 | likely_pathogenic | 0.9705 | pathogenic | -0.462 | Destabilizing | 0.994 | D | 0.651 | neutral | N | 0.492533319 | None | None | I |
| S/T | 0.1527 | likely_benign | 0.1484 | benign | -0.56 | Destabilizing | 0.122 | N | 0.211 | neutral | N | 0.484556308 | None | None | I |
| S/V | 0.6813 | likely_pathogenic | 0.6601 | pathogenic | -0.376 | Destabilizing | 0.97 | D | 0.627 | neutral | None | None | None | None | I |
| S/W | 0.9307 | likely_pathogenic | 0.9146 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| S/Y | 0.7995 | likely_pathogenic | 0.7652 | pathogenic | -0.708 | Destabilizing | 0.999 | D | 0.756 | deleterious | 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.