Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14470 | 43633;43634;43635 | chr2:178632598;178632597;178632596 | chr2:179497325;179497324;179497323 |
| N2AB | 12829 | 38710;38711;38712 | chr2:178632598;178632597;178632596 | chr2:179497325;179497324;179497323 |
| N2A | 11902 | 35929;35930;35931 | chr2:178632598;178632597;178632596 | chr2:179497325;179497324;179497323 |
| N2B | 5405 | 16438;16439;16440 | chr2:178632598;178632597;178632596 | chr2:179497325;179497324;179497323 |
| Novex-1 | 5530 | 16813;16814;16815 | chr2:178632598;178632597;178632596 | chr2:179497325;179497324;179497323 |
| Novex-2 | 5597 | 17014;17015;17016 | chr2:178632598;178632597;178632596 | chr2:179497325;179497324;179497323 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs766505487  |
-0.567 | 0.963 | D | 0.313 | 0.372 | 0.434384183301 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/P | rs766505487 |
-0.567 | 0.963 | D | 0.313 | 0.372 | 0.434384183301 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| A/P | rs766505487 |
-0.567 | 0.963 | D | 0.313 | 0.372 | 0.434384183301 | gnomAD-4.0.0 | 2.85132E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56235E-05 | 0 | 3.56063E-05 | 0 | 4.80523E-05 |
| A/T | None | None | 0.016 | N | 0.26 | 0.194 | 0.207176502487 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99612E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5578 | ambiguous | 0.5296 | ambiguous | -1.005 | Destabilizing | 0.992 | D | 0.365 | neutral | None | None | None | None | N |
| A/D | 0.3544 | ambiguous | 0.3608 | ambiguous | -1.232 | Destabilizing | 0.549 | D | 0.392 | neutral | N | 0.504959425 | None | None | N |
| A/E | 0.33 | likely_benign | 0.3315 | benign | -1.237 | Destabilizing | 0.617 | D | 0.32 | neutral | None | None | None | None | N |
| A/F | 0.3952 | ambiguous | 0.3822 | ambiguous | -1.095 | Destabilizing | 0.972 | D | 0.423 | neutral | None | None | None | None | N |
| A/G | 0.1488 | likely_benign | 0.1392 | benign | -1.311 | Destabilizing | 0.004 | N | 0.147 | neutral | N | 0.501573347 | None | None | N |
| A/H | 0.525 | ambiguous | 0.5057 | ambiguous | -1.438 | Destabilizing | 0.992 | D | 0.407 | neutral | None | None | None | None | N |
| A/I | 0.3757 | ambiguous | 0.3335 | benign | -0.371 | Destabilizing | 0.85 | D | 0.328 | neutral | None | None | None | None | N |
| A/K | 0.4577 | ambiguous | 0.4373 | ambiguous | -1.207 | Destabilizing | 0.021 | N | 0.225 | neutral | None | None | None | None | N |
| A/L | 0.2338 | likely_benign | 0.2166 | benign | -0.371 | Destabilizing | 0.617 | D | 0.347 | neutral | None | None | None | None | N |
| A/M | 0.329 | likely_benign | 0.2938 | benign | -0.296 | Destabilizing | 0.992 | D | 0.341 | neutral | None | None | None | None | N |
| A/N | 0.2909 | likely_benign | 0.2817 | benign | -0.999 | Destabilizing | 0.617 | D | 0.391 | neutral | None | None | None | None | N |
| A/P | 0.7663 | likely_pathogenic | 0.7069 | pathogenic | -0.545 | Destabilizing | 0.963 | D | 0.313 | neutral | D | 0.563356159 | None | None | N |
| A/Q | 0.3613 | ambiguous | 0.35 | ambiguous | -1.124 | Destabilizing | 0.85 | D | 0.311 | neutral | None | None | None | None | N |
| A/R | 0.3454 | ambiguous | 0.3259 | benign | -0.887 | Destabilizing | 0.005 | N | 0.246 | neutral | None | None | None | None | N |
| A/S | 0.0878 | likely_benign | 0.0914 | benign | -1.41 | Destabilizing | 0.201 | N | 0.387 | neutral | N | 0.489107276 | None | None | N |
| A/T | 0.1066 | likely_benign | 0.0987 | benign | -1.311 | Destabilizing | 0.016 | N | 0.26 | neutral | N | 0.473768406 | None | None | N |
| A/V | 0.1768 | likely_benign | 0.1574 | benign | -0.545 | Destabilizing | 0.549 | D | 0.345 | neutral | N | 0.495457261 | None | None | N |
| A/W | 0.838 | likely_pathogenic | 0.8155 | pathogenic | -1.461 | Destabilizing | 0.992 | D | 0.515 | neutral | None | None | None | None | N |
| A/Y | 0.5864 | likely_pathogenic | 0.5775 | pathogenic | -1.039 | Destabilizing | 0.972 | D | 0.423 | 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.