Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19111 | 57556;57557;57558 | chr2:178597751;178597750;178597749 | chr2:179462478;179462477;179462476 |
| N2AB | 17470 | 52633;52634;52635 | chr2:178597751;178597750;178597749 | chr2:179462478;179462477;179462476 |
| N2A | 16543 | 49852;49853;49854 | chr2:178597751;178597750;178597749 | chr2:179462478;179462477;179462476 |
| N2B | 10046 | 30361;30362;30363 | chr2:178597751;178597750;178597749 | chr2:179462478;179462477;179462476 |
| Novex-1 | 10171 | 30736;30737;30738 | chr2:178597751;178597750;178597749 | chr2:179462478;179462477;179462476 |
| Novex-2 | 10238 | 30937;30938;30939 | chr2:178597751;178597750;178597749 | chr2:179462478;179462477;179462476 |
| 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/P | rs375808207  |
-0.547 | 1.0 | N | 0.73 | 0.515 | 0.490144168196 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| R/P | rs375808207 |
-0.547 | 1.0 | N | 0.73 | 0.515 | 0.490144168196 | gnomAD-4.0.0 | 6.84436E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9963E-07 | 0 | 0 |
| R/Q | rs375808207 |
-0.252 | 1.0 | N | 0.691 | 0.377 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| R/Q | rs375808207 |
-0.252 | 1.0 | N | 0.691 | 0.377 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/Q | rs375808207 |
-0.252 | 1.0 | N | 0.691 | 0.377 | None | gnomAD-4.0.0 | 1.05391E-05 | None | None | None | None | N | None | 2.67144E-05 | 0 | None | 3.37998E-05 | 2.23814E-05 | None | 0 | 0 | 1.01735E-05 | 1.09823E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9777 | likely_pathogenic | 0.9914 | pathogenic | -0.692 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| R/C | 0.7115 | likely_pathogenic | 0.8752 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/D | 0.9842 | likely_pathogenic | 0.9937 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/E | 0.9253 | likely_pathogenic | 0.9648 | pathogenic | 0.123 | Stabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | N |
| R/F | 0.9843 | likely_pathogenic | 0.9929 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| R/G | 0.9439 | likely_pathogenic | 0.9826 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.492572187 | None | None | N |
| R/H | 0.3818 | ambiguous | 0.5835 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| R/I | 0.9534 | likely_pathogenic | 0.9757 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| R/K | 0.4568 | ambiguous | 0.6441 | pathogenic | -0.66 | Destabilizing | 0.998 | D | 0.502 | neutral | None | None | None | None | N |
| R/L | 0.9267 | likely_pathogenic | 0.9645 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.456221865 | None | None | N |
| R/M | 0.9557 | likely_pathogenic | 0.9828 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| R/N | 0.958 | likely_pathogenic | 0.9834 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| R/P | 0.9946 | likely_pathogenic | 0.9976 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.492572187 | None | None | N |
| R/Q | 0.4576 | ambiguous | 0.6725 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.457742803 | None | None | N |
| R/S | 0.9571 | likely_pathogenic | 0.9849 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| R/T | 0.9187 | likely_pathogenic | 0.9713 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| R/V | 0.9532 | likely_pathogenic | 0.9761 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/W | 0.7343 | likely_pathogenic | 0.8636 | pathogenic | -0.059 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/Y | 0.9334 | likely_pathogenic | 0.9704 | pathogenic | 0.218 | Stabilizing | 1.0 | D | 0.756 | deleterious | 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.