Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24170 | 72733;72734;72735 | chr2:178573624;178573623;178573622 | chr2:179438351;179438350;179438349 |
| N2AB | 22529 | 67810;67811;67812 | chr2:178573624;178573623;178573622 | chr2:179438351;179438350;179438349 |
| N2A | 21602 | 65029;65030;65031 | chr2:178573624;178573623;178573622 | chr2:179438351;179438350;179438349 |
| N2B | 15105 | 45538;45539;45540 | chr2:178573624;178573623;178573622 | chr2:179438351;179438350;179438349 |
| Novex-1 | 15230 | 45913;45914;45915 | chr2:178573624;178573623;178573622 | chr2:179438351;179438350;179438349 |
| Novex-2 | 15297 | 46114;46115;46116 | chr2:178573624;178573623;178573622 | chr2:179438351;179438350;179438349 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | rs878867684  |
None | 1.0 | D | 0.632 | 0.607 | 0.497086342495 | 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 |
| W/G | rs878867684 |
None | 1.0 | D | 0.632 | 0.607 | 0.497086342495 | gnomAD-4.0.0 | 1.33208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.77342E-06 | 0 | 0 |
| W/R | rs878867684 |
None | 1.0 | D | 0.702 | 0.558 | 0.82698182672 | gnomAD-4.0.0 | 4.44672E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.66168E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9946 | likely_pathogenic | 0.9956 | pathogenic | -2.93 | Highly Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| W/C | 0.9971 | likely_pathogenic | 0.9979 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.645 | neutral | N | 0.514720546 | None | None | N |
| W/D | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| W/E | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| W/F | 0.7281 | likely_pathogenic | 0.7683 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| W/G | 0.9867 | likely_pathogenic | 0.9881 | pathogenic | -3.118 | Highly Destabilizing | 1.0 | D | 0.632 | neutral | D | 0.546952583 | None | None | N |
| W/H | 0.996 | likely_pathogenic | 0.9967 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| W/I | 0.9947 | likely_pathogenic | 0.9962 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| W/L | 0.9781 | likely_pathogenic | 0.9843 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.632 | neutral | D | 0.534835809 | None | None | N |
| W/M | 0.9941 | likely_pathogenic | 0.9954 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| W/N | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/P | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -2.496 | Highly Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.547459562 | None | None | N |
| W/S | 0.9885 | likely_pathogenic | 0.9911 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.534075341 | None | None | N |
| W/T | 0.9963 | likely_pathogenic | 0.9971 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| W/V | 0.9915 | likely_pathogenic | 0.9938 | pathogenic | -2.496 | Highly Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| W/Y | 0.9056 | likely_pathogenic | 0.9181 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.572 | neutral | 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.