Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7565 | 22918;22919;22920 | chr2:178721970;178721969;178721968 | chr2:179586697;179586696;179586695 |
| N2AB | 7248 | 21967;21968;21969 | chr2:178721970;178721969;178721968 | chr2:179586697;179586696;179586695 |
| N2A | 6321 | 19186;19187;19188 | chr2:178721970;178721969;178721968 | chr2:179586697;179586696;179586695 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs753947699  |
-0.948 | 0.001 | N | 0.457 | 0.277 | 0.622510390952 | gnomAD-4.0.0 | 6.84313E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65706E-05 |
| C/R | rs757611239 |
None | 0.213 | N | 0.608 | 0.252 | 0.684433362957 | gnomAD-4.0.0 | 3.42152E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87259E-05 | 0 | 3.59836E-06 | 0 | 0 |
| C/S | rs757611239 |
-0.51 | 0.183 | N | 0.494 | 0.224 | 0.527908583987 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| C/S | rs757611239 |
-0.51 | 0.183 | N | 0.494 | 0.224 | 0.527908583987 | gnomAD-4.0.0 | 6.84303E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9959E-07 | 0 | 0 |
| C/Y | None | None | 0.002 | N | 0.469 | 0.277 | 0.483448007585 | gnomAD-4.0.0 | 6.84313E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15961E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.2477 | likely_benign | 0.2883 | benign | -1.028 | Destabilizing | 0.228 | N | 0.35 | neutral | None | None | None | None | N |
| C/D | 0.4729 | ambiguous | 0.5455 | ambiguous | 0.304 | Stabilizing | 0.593 | D | 0.619 | neutral | None | None | None | None | N |
| C/E | 0.605 | likely_pathogenic | 0.6606 | pathogenic | 0.299 | Stabilizing | 0.418 | N | 0.597 | neutral | None | None | None | None | N |
| C/F | 0.081 | likely_benign | 0.1101 | benign | -0.834 | Destabilizing | 0.001 | N | 0.457 | neutral | N | 0.344140202 | None | None | N |
| C/G | 0.1697 | likely_benign | 0.2046 | benign | -1.217 | Destabilizing | 0.523 | D | 0.582 | neutral | N | 0.452134458 | None | None | N |
| C/H | 0.2513 | likely_benign | 0.3246 | benign | -1.254 | Destabilizing | 0.716 | D | 0.589 | neutral | None | None | None | None | N |
| C/I | 0.3072 | likely_benign | 0.3436 | ambiguous | -0.601 | Destabilizing | 0.264 | N | 0.527 | neutral | None | None | None | None | N |
| C/K | 0.6348 | likely_pathogenic | 0.6822 | pathogenic | -0.247 | Destabilizing | 0.004 | N | 0.487 | neutral | None | None | None | None | N |
| C/L | 0.2871 | likely_benign | 0.3365 | benign | -0.601 | Destabilizing | 0.129 | N | 0.493 | neutral | None | None | None | None | N |
| C/M | 0.384 | ambiguous | 0.43 | ambiguous | 0.02 | Stabilizing | 0.836 | D | 0.543 | neutral | None | None | None | None | N |
| C/N | 0.2806 | likely_benign | 0.3432 | ambiguous | 0.081 | Stabilizing | 0.593 | D | 0.613 | neutral | None | None | None | None | N |
| C/P | 0.8573 | likely_pathogenic | 0.8957 | pathogenic | -0.718 | Destabilizing | 0.94 | D | 0.605 | neutral | None | None | None | None | N |
| C/Q | 0.3716 | ambiguous | 0.4495 | ambiguous | -0.033 | Destabilizing | 0.716 | D | 0.611 | neutral | None | None | None | None | N |
| C/R | 0.2711 | likely_benign | 0.3255 | benign | 0.029 | Stabilizing | 0.213 | N | 0.608 | neutral | N | 0.427833447 | None | None | N |
| C/S | 0.1725 | likely_benign | 0.2092 | benign | -0.423 | Destabilizing | 0.183 | N | 0.494 | neutral | N | 0.371902806 | None | None | N |
| C/T | 0.2542 | likely_benign | 0.2978 | benign | -0.286 | Destabilizing | 0.593 | D | 0.499 | neutral | None | None | None | None | N |
| C/V | 0.246 | likely_benign | 0.2775 | benign | -0.718 | Destabilizing | 0.129 | N | 0.505 | neutral | None | None | None | None | N |
| C/W | 0.2371 | likely_benign | 0.3082 | benign | -0.766 | Destabilizing | 0.794 | D | 0.573 | neutral | N | 0.489479338 | None | None | N |
| C/Y | 0.11 | likely_benign | 0.1389 | benign | -0.694 | Destabilizing | 0.002 | N | 0.469 | neutral | N | 0.3732496 | 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.