Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21682 | 65269;65270;65271 | chr2:178584507;178584506;178584505 | chr2:179449234;179449233;179449232 |
| N2AB | 20041 | 60346;60347;60348 | chr2:178584507;178584506;178584505 | chr2:179449234;179449233;179449232 |
| N2A | 19114 | 57565;57566;57567 | chr2:178584507;178584506;178584505 | chr2:179449234;179449233;179449232 |
| N2B | 12617 | 38074;38075;38076 | chr2:178584507;178584506;178584505 | chr2:179449234;179449233;179449232 |
| Novex-1 | 12742 | 38449;38450;38451 | chr2:178584507;178584506;178584505 | chr2:179449234;179449233;179449232 |
| Novex-2 | 12809 | 38650;38651;38652 | chr2:178584507;178584506;178584505 | chr2:179449234;179449233;179449232 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | 0.006 | N | 0.211 | 0.134 | 0.158396225186 | 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 |
| R/T | rs1553632377  |
None | 0.822 | N | 0.63 | 0.263 | 0.285316908763 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2674 | likely_benign | 0.2473 | benign | -0.049 | Destabilizing | 0.754 | D | 0.605 | neutral | None | None | None | None | N |
| R/C | 0.1859 | likely_benign | 0.1774 | benign | -0.243 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | N |
| R/D | 0.6204 | likely_pathogenic | 0.5935 | pathogenic | -0.334 | Destabilizing | 0.956 | D | 0.666 | neutral | None | None | None | None | N |
| R/E | 0.2862 | likely_benign | 0.2681 | benign | -0.212 | Destabilizing | 0.754 | D | 0.562 | neutral | None | None | None | None | N |
| R/F | 0.4838 | ambiguous | 0.4814 | ambiguous | -0.066 | Destabilizing | 0.993 | D | 0.726 | prob.delet. | None | None | None | None | N |
| R/G | 0.2559 | likely_benign | 0.2419 | benign | -0.301 | Destabilizing | 0.822 | D | 0.623 | neutral | N | 0.470130281 | None | None | N |
| R/H | 0.1148 | likely_benign | 0.1161 | benign | -1.058 | Destabilizing | 0.978 | D | 0.604 | neutral | None | None | None | None | N |
| R/I | 0.2111 | likely_benign | 0.2137 | benign | 0.603 | Stabilizing | 0.97 | D | 0.729 | prob.delet. | N | 0.509283315 | None | None | N |
| R/K | 0.0781 | likely_benign | 0.0744 | benign | -0.054 | Destabilizing | 0.006 | N | 0.211 | neutral | N | 0.39168814 | None | None | N |
| R/L | 0.1892 | likely_benign | 0.1788 | benign | 0.603 | Stabilizing | 0.86 | D | 0.623 | neutral | None | None | None | None | N |
| R/M | 0.2191 | likely_benign | 0.2117 | benign | -0.082 | Destabilizing | 0.998 | D | 0.673 | neutral | None | None | None | None | N |
| R/N | 0.5228 | ambiguous | 0.4985 | ambiguous | -0.044 | Destabilizing | 0.956 | D | 0.585 | neutral | None | None | None | None | N |
| R/P | 0.2807 | likely_benign | 0.2523 | benign | 0.406 | Stabilizing | 0.978 | D | 0.738 | prob.delet. | None | None | None | None | N |
| R/Q | 0.1012 | likely_benign | 0.0978 | benign | 0.013 | Stabilizing | 0.956 | D | 0.607 | neutral | None | None | None | None | N |
| R/S | 0.3864 | ambiguous | 0.3664 | ambiguous | -0.292 | Destabilizing | 0.822 | D | 0.627 | neutral | N | 0.463953671 | None | None | N |
| R/T | 0.1909 | likely_benign | 0.1869 | benign | -0.002 | Destabilizing | 0.822 | D | 0.63 | neutral | N | 0.474093306 | None | None | N |
| R/V | 0.2524 | likely_benign | 0.2453 | benign | 0.406 | Stabilizing | 0.956 | D | 0.715 | prob.delet. | None | None | None | None | N |
| R/W | 0.2196 | likely_benign | 0.2306 | benign | -0.133 | Destabilizing | 0.998 | D | 0.723 | prob.delet. | None | None | None | None | N |
| R/Y | 0.379 | ambiguous | 0.3834 | ambiguous | 0.251 | Stabilizing | 0.993 | D | 0.738 | prob.delet. | 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.