Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2409 | 7450;7451;7452 | chr2:178773943;178773942;178773941 | chr2:179638670;179638669;179638668 |
| N2AB | 2409 | 7450;7451;7452 | chr2:178773943;178773942;178773941 | chr2:179638670;179638669;179638668 |
| N2A | 2409 | 7450;7451;7452 | chr2:178773943;178773942;178773941 | chr2:179638670;179638669;179638668 |
| N2B | 2363 | 7312;7313;7314 | chr2:178773943;178773942;178773941 | chr2:179638670;179638669;179638668 |
| Novex-1 | 2363 | 7312;7313;7314 | chr2:178773943;178773942;178773941 | chr2:179638670;179638669;179638668 |
| Novex-2 | 2363 | 7312;7313;7314 | chr2:178773943;178773942;178773941 | chr2:179638670;179638669;179638668 |
| Novex-3 | 2409 | 7450;7451;7452 | chr2:178773943;178773942;178773941 | chr2:179638670;179638669;179638668 |
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/C | rs769246937  |
-0.353 | 0.999 | N | 0.523 | 0.41 | 0.546995609267 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| S/C | rs769246937 |
-0.353 | 0.999 | N | 0.523 | 0.41 | 0.546995609267 | gnomAD-4.0.0 | 6.84073E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99305E-07 | 0 | 0 |
| S/Y | rs769246937 |
-0.156 | 0.996 | N | 0.606 | 0.435 | 0.70524541446 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| S/Y | rs769246937 |
-0.156 | 0.996 | N | 0.606 | 0.435 | 0.70524541446 | gnomAD-4.0.0 | 6.84073E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99305E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1207 | likely_benign | 0.1234 | benign | -0.36 | Destabilizing | 0.061 | N | 0.138 | neutral | N | 0.492245124 | None | None | N |
| S/C | 0.1345 | likely_benign | 0.1316 | benign | -0.476 | Destabilizing | 0.999 | D | 0.523 | neutral | N | 0.514422284 | None | None | N |
| S/D | 0.8082 | likely_pathogenic | 0.8149 | pathogenic | -1.703 | Destabilizing | 0.969 | D | 0.503 | neutral | None | None | None | None | N |
| S/E | 0.8423 | likely_pathogenic | 0.8465 | pathogenic | -1.607 | Destabilizing | 0.969 | D | 0.469 | neutral | None | None | None | None | N |
| S/F | 0.3936 | ambiguous | 0.402 | ambiguous | -0.247 | Destabilizing | 0.988 | D | 0.599 | neutral | N | 0.501966768 | None | None | N |
| S/G | 0.1815 | likely_benign | 0.1846 | benign | -0.685 | Destabilizing | 0.863 | D | 0.449 | neutral | None | None | None | None | N |
| S/H | 0.5415 | ambiguous | 0.5575 | ambiguous | -1.334 | Destabilizing | 0.999 | D | 0.519 | neutral | None | None | None | None | N |
| S/I | 0.2696 | likely_benign | 0.2788 | benign | 0.422 | Stabilizing | 0.884 | D | 0.523 | neutral | None | None | None | None | N |
| S/K | 0.8946 | likely_pathogenic | 0.9047 | pathogenic | -0.885 | Destabilizing | 0.969 | D | 0.466 | neutral | None | None | None | None | N |
| S/L | 0.1752 | likely_benign | 0.1739 | benign | 0.422 | Stabilizing | 0.759 | D | 0.497 | neutral | None | None | None | None | N |
| S/M | 0.2681 | likely_benign | 0.2681 | benign | 0.534 | Stabilizing | 0.991 | D | 0.559 | neutral | None | None | None | None | N |
| S/N | 0.2046 | likely_benign | 0.2232 | benign | -1.324 | Destabilizing | 0.99 | D | 0.517 | neutral | None | None | None | None | N |
| S/P | 0.9738 | likely_pathogenic | 0.974 | pathogenic | 0.197 | Stabilizing | 0.988 | D | 0.547 | neutral | N | 0.509788591 | None | None | N |
| S/Q | 0.716 | likely_pathogenic | 0.7253 | pathogenic | -1.226 | Destabilizing | 0.997 | D | 0.549 | neutral | None | None | None | None | N |
| S/R | 0.83 | likely_pathogenic | 0.839 | pathogenic | -1.039 | Destabilizing | 0.991 | D | 0.563 | neutral | None | None | None | None | N |
| S/T | 0.1123 | likely_benign | 0.1166 | benign | -0.933 | Destabilizing | 0.826 | D | 0.483 | neutral | N | 0.451369596 | None | None | N |
| S/V | 0.2603 | likely_benign | 0.2671 | benign | 0.197 | Stabilizing | 0.079 | N | 0.308 | neutral | None | None | None | None | N |
| S/W | 0.5585 | ambiguous | 0.5496 | ambiguous | -0.587 | Destabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | N |
| S/Y | 0.3242 | likely_benign | 0.33 | benign | -0.187 | Destabilizing | 0.996 | D | 0.606 | neutral | N | 0.513716677 | 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.