Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18056 | 54391;54392;54393 | chr2:178605011;178605010;178605009 | chr2:179469738;179469737;179469736 |
| N2AB | 16415 | 49468;49469;49470 | chr2:178605011;178605010;178605009 | chr2:179469738;179469737;179469736 |
| N2A | 15488 | 46687;46688;46689 | chr2:178605011;178605010;178605009 | chr2:179469738;179469737;179469736 |
| N2B | 8991 | 27196;27197;27198 | chr2:178605011;178605010;178605009 | chr2:179469738;179469737;179469736 |
| Novex-1 | 9116 | 27571;27572;27573 | chr2:178605011;178605010;178605009 | chr2:179469738;179469737;179469736 |
| Novex-2 | 9183 | 27772;27773;27774 | chr2:178605011;178605010;178605009 | chr2:179469738;179469737;179469736 |
| 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/G | None | None | 0.756 | N | 0.628 | 0.265 | 0.523495912915 | gnomAD-4.0.0 | 6.90367E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.185E-05 | 0 |
| R/Q | rs376932266  |
-0.335 | 0.774 | N | 0.581 | 0.176 | None | gnomAD-2.1.1 | 1.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.04E-05 | None | 0 | 2.41E-05 | 0 |
| R/Q | rs376932266 |
-0.335 | 0.774 | N | 0.581 | 0.176 | None | gnomAD-3.1.2 | 4.61E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| R/Q | rs376932266 |
-0.335 | 0.774 | N | 0.581 | 0.176 | None | gnomAD-4.0.0 | 2.62526E-05 | None | None | None | None | N | None | 1.34376E-05 | 0 | None | 6.97545E-05 | 0 | None | 0 | 0 | 2.90144E-05 | 3.36927E-05 | 3.23426E-05 |
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 | 0.624 | likely_pathogenic | 0.6322 | pathogenic | -0.013 | Destabilizing | 0.25 | N | 0.563 | neutral | None | None | None | None | N |
| R/C | 0.232 | likely_benign | 0.2435 | benign | -0.254 | Destabilizing | 0.992 | D | 0.618 | neutral | None | None | None | None | N |
| R/D | 0.8821 | likely_pathogenic | 0.8829 | pathogenic | -0.075 | Destabilizing | 0.447 | N | 0.631 | neutral | None | None | None | None | N |
| R/E | 0.5747 | likely_pathogenic | 0.5691 | pathogenic | 0.023 | Stabilizing | 0.021 | N | 0.15 | neutral | None | None | None | None | N |
| R/F | 0.802 | likely_pathogenic | 0.8218 | pathogenic | -0.124 | Destabilizing | 0.92 | D | 0.644 | neutral | None | None | None | None | N |
| R/G | 0.5043 | ambiguous | 0.5201 | ambiguous | -0.243 | Destabilizing | 0.756 | D | 0.628 | neutral | N | 0.479590419 | None | None | N |
| R/H | 0.1648 | likely_benign | 0.1656 | benign | -0.802 | Destabilizing | 0.005 | N | 0.15 | neutral | None | None | None | None | N |
| R/I | 0.5726 | likely_pathogenic | 0.5901 | pathogenic | 0.568 | Stabilizing | 0.92 | D | 0.661 | neutral | None | None | None | None | N |
| R/K | 0.1798 | likely_benign | 0.1684 | benign | -0.065 | Destabilizing | 0.002 | N | 0.122 | neutral | None | None | None | None | N |
| R/L | 0.4706 | ambiguous | 0.5027 | ambiguous | 0.568 | Stabilizing | 0.756 | D | 0.658 | neutral | N | 0.499272258 | None | None | N |
| R/M | 0.5685 | likely_pathogenic | 0.5708 | pathogenic | -0.042 | Destabilizing | 0.972 | D | 0.633 | neutral | None | None | None | None | N |
| R/N | 0.8068 | likely_pathogenic | 0.8066 | pathogenic | 0.024 | Stabilizing | 0.617 | D | 0.568 | neutral | None | None | None | None | N |
| R/P | 0.9661 | likely_pathogenic | 0.9734 | pathogenic | 0.395 | Stabilizing | 0.957 | D | 0.693 | prob.neutral | N | 0.494517874 | None | None | N |
| R/Q | 0.1359 | likely_benign | 0.1354 | benign | 0.012 | Stabilizing | 0.774 | D | 0.581 | neutral | N | 0.480686497 | None | None | N |
| R/S | 0.6923 | likely_pathogenic | 0.691 | pathogenic | -0.31 | Destabilizing | 0.447 | N | 0.61 | neutral | None | None | None | None | N |
| R/T | 0.5007 | ambiguous | 0.5063 | ambiguous | -0.056 | Destabilizing | 0.617 | D | 0.633 | neutral | None | None | None | None | N |
| R/V | 0.5905 | likely_pathogenic | 0.61 | pathogenic | 0.395 | Stabilizing | 0.617 | D | 0.698 | prob.neutral | None | None | None | None | N |
| R/W | 0.3753 | ambiguous | 0.4016 | ambiguous | -0.165 | Destabilizing | 0.992 | D | 0.631 | neutral | None | None | None | None | N |
| R/Y | 0.6038 | likely_pathogenic | 0.626 | pathogenic | 0.237 | Stabilizing | 0.85 | D | 0.683 | prob.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.