Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26653 | 80182;80183;80184 | chr2:178566175;178566174;178566173 | chr2:179430902;179430901;179430900 |
| N2AB | 25012 | 75259;75260;75261 | chr2:178566175;178566174;178566173 | chr2:179430902;179430901;179430900 |
| N2A | 24085 | 72478;72479;72480 | chr2:178566175;178566174;178566173 | chr2:179430902;179430901;179430900 |
| N2B | 17588 | 52987;52988;52989 | chr2:178566175;178566174;178566173 | chr2:179430902;179430901;179430900 |
| Novex-1 | 17713 | 53362;53363;53364 | chr2:178566175;178566174;178566173 | chr2:179430902;179430901;179430900 |
| Novex-2 | 17780 | 53563;53564;53565 | chr2:178566175;178566174;178566173 | chr2:179430902;179430901;179430900 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs752562709  |
-0.91 | 0.99 | N | 0.678 | 0.613 | 0.770712332363 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78676E-04 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs752562709 |
-0.91 | 0.99 | N | 0.678 | 0.613 | 0.770712332363 | gnomAD-4.0.0 | 7.95753E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.38696E-04 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6651 | likely_pathogenic | 0.6145 | pathogenic | -0.337 | Destabilizing | 0.019 | N | 0.323 | neutral | None | None | None | None | N |
| C/D | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -0.978 | Destabilizing | 0.978 | D | 0.73 | prob.delet. | None | None | None | None | N |
| C/E | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -0.916 | Destabilizing | 0.956 | D | 0.732 | prob.delet. | None | None | None | None | N |
| C/F | 0.9105 | likely_pathogenic | 0.8849 | pathogenic | -0.643 | Destabilizing | 0.97 | D | 0.67 | neutral | N | 0.487325398 | None | None | N |
| C/G | 0.676 | likely_pathogenic | 0.635 | pathogenic | -0.538 | Destabilizing | 0.698 | D | 0.665 | neutral | N | 0.505936632 | None | None | N |
| C/H | 0.9924 | likely_pathogenic | 0.9898 | pathogenic | -1.253 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | N |
| C/I | 0.8187 | likely_pathogenic | 0.7667 | pathogenic | 0.113 | Stabilizing | 0.956 | D | 0.669 | neutral | None | None | None | None | N |
| C/K | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | 0.078 | Stabilizing | 0.956 | D | 0.719 | prob.delet. | None | None | None | None | N |
| C/L | 0.8284 | likely_pathogenic | 0.7977 | pathogenic | 0.113 | Stabilizing | 0.754 | D | 0.523 | neutral | None | None | None | None | N |
| C/M | 0.9077 | likely_pathogenic | 0.8824 | pathogenic | 0.461 | Stabilizing | 0.998 | D | 0.648 | neutral | None | None | None | None | N |
| C/N | 0.9763 | likely_pathogenic | 0.9715 | pathogenic | -0.143 | Destabilizing | 0.978 | D | 0.731 | prob.delet. | None | None | None | None | N |
| C/P | 0.9904 | likely_pathogenic | 0.988 | pathogenic | -0.01 | Destabilizing | 0.978 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/Q | 0.9938 | likely_pathogenic | 0.9914 | pathogenic | -0.217 | Destabilizing | 0.978 | D | 0.736 | prob.delet. | None | None | None | None | N |
| C/R | 0.9892 | likely_pathogenic | 0.9854 | pathogenic | -0.075 | Destabilizing | 0.97 | D | 0.727 | prob.delet. | N | 0.505936632 | None | None | N |
| C/S | 0.6236 | likely_pathogenic | 0.5775 | pathogenic | -0.235 | Destabilizing | 0.698 | D | 0.576 | neutral | N | 0.469834785 | None | None | N |
| C/T | 0.6552 | likely_pathogenic | 0.6224 | pathogenic | -0.04 | Destabilizing | 0.86 | D | 0.619 | neutral | None | None | None | None | N |
| C/V | 0.6055 | likely_pathogenic | 0.5665 | pathogenic | -0.01 | Destabilizing | 0.754 | D | 0.576 | neutral | None | None | None | None | N |
| C/W | 0.9877 | likely_pathogenic | 0.9826 | pathogenic | -0.969 | Destabilizing | 0.997 | D | 0.663 | neutral | N | 0.506190121 | None | None | N |
| C/Y | 0.9778 | likely_pathogenic | 0.9693 | pathogenic | -0.554 | Destabilizing | 0.99 | D | 0.678 | prob.neutral | N | 0.505936632 | 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.