Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30672 | 92239;92240;92241 | chr2:178549708;178549707;178549706 | chr2:179414435;179414434;179414433 |
| N2AB | 29031 | 87316;87317;87318 | chr2:178549708;178549707;178549706 | chr2:179414435;179414434;179414433 |
| N2A | 28104 | 84535;84536;84537 | chr2:178549708;178549707;178549706 | chr2:179414435;179414434;179414433 |
| N2B | 21607 | 65044;65045;65046 | chr2:178549708;178549707;178549706 | chr2:179414435;179414434;179414433 |
| Novex-1 | 21732 | 65419;65420;65421 | chr2:178549708;178549707;178549706 | chr2:179414435;179414434;179414433 |
| Novex-2 | 21799 | 65620;65621;65622 | chr2:178549708;178549707;178549706 | chr2:179414435;179414434;179414433 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 0.978 | N | 0.419 | 0.3 | 0.215109475489 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/N | rs1025405753  |
None | 0.978 | N | 0.428 | 0.244 | 0.235664433957 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs1025405753 |
None | 0.978 | N | 0.428 | 0.244 | 0.235664433957 | gnomAD-4.0.0 | 3.84379E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1794E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.184 | likely_benign | 0.1985 | benign | -0.509 | Destabilizing | 0.9 | D | 0.453 | neutral | N | 0.424760564 | None | None | N |
| D/C | 0.6854 | likely_pathogenic | 0.716 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/E | 0.1317 | likely_benign | 0.1297 | benign | -0.566 | Destabilizing | 0.948 | D | 0.407 | neutral | N | 0.403443929 | None | None | N |
| D/F | 0.7341 | likely_pathogenic | 0.793 | pathogenic | -0.219 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/G | 0.14 | likely_benign | 0.168 | benign | -0.807 | Destabilizing | 0.978 | D | 0.419 | neutral | N | 0.455392902 | None | None | N |
| D/H | 0.3387 | likely_benign | 0.3748 | ambiguous | -0.42 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.512670337 | None | None | N |
| D/I | 0.5176 | ambiguous | 0.5599 | ambiguous | 0.262 | Stabilizing | 0.998 | D | 0.698 | prob.neutral | None | None | None | None | N |
| D/K | 0.3605 | ambiguous | 0.3825 | ambiguous | -0.352 | Destabilizing | 0.983 | D | 0.51 | neutral | None | None | None | None | N |
| D/L | 0.488 | ambiguous | 0.5351 | ambiguous | 0.262 | Stabilizing | 0.998 | D | 0.634 | neutral | None | None | None | None | N |
| D/M | 0.6454 | likely_pathogenic | 0.6796 | pathogenic | 0.569 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/N | 0.1098 | likely_benign | 0.1207 | benign | -0.663 | Destabilizing | 0.978 | D | 0.428 | neutral | N | 0.476882895 | None | None | N |
| D/P | 0.5128 | ambiguous | 0.5266 | ambiguous | 0.029 | Stabilizing | 0.998 | D | 0.607 | neutral | None | None | None | None | N |
| D/Q | 0.3175 | likely_benign | 0.3268 | benign | -0.561 | Destabilizing | 0.998 | D | 0.534 | neutral | None | None | None | None | N |
| D/R | 0.431 | ambiguous | 0.4668 | ambiguous | -0.133 | Destabilizing | 0.998 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/S | 0.1254 | likely_benign | 0.1355 | benign | -0.861 | Destabilizing | 0.487 | N | 0.171 | neutral | None | None | None | None | N |
| D/T | 0.2368 | likely_benign | 0.2512 | benign | -0.631 | Destabilizing | 0.967 | D | 0.461 | neutral | None | None | None | None | N |
| D/V | 0.3067 | likely_benign | 0.3426 | ambiguous | 0.029 | Stabilizing | 0.997 | D | 0.698 | prob.neutral | N | 0.511624613 | None | None | N |
| D/W | 0.8938 | likely_pathogenic | 0.9156 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/Y | 0.3043 | likely_benign | 0.3628 | ambiguous | -0.004 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | N | 0.494084576 | 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.