Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27844 | 83755;83756;83757 | chr2:178562602;178562601;178562600 | chr2:179427329;179427328;179427327 |
| N2AB | 26203 | 78832;78833;78834 | chr2:178562602;178562601;178562600 | chr2:179427329;179427328;179427327 |
| N2A | 25276 | 76051;76052;76053 | chr2:178562602;178562601;178562600 | chr2:179427329;179427328;179427327 |
| N2B | 18779 | 56560;56561;56562 | chr2:178562602;178562601;178562600 | chr2:179427329;179427328;179427327 |
| Novex-1 | 18904 | 56935;56936;56937 | chr2:178562602;178562601;178562600 | chr2:179427329;179427328;179427327 |
| Novex-2 | 18971 | 57136;57137;57138 | chr2:178562602;178562601;178562600 | chr2:179427329;179427328;179427327 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | None | None | 1.0 | D | 0.781 | 0.733 | 0.605930529564 | gnomAD-4.0.0 | 1.59905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86607E-06 | 0 | 0 |
| N/K | None | None | 1.0 | D | 0.758 | 0.628 | 0.363944505237 | gnomAD-4.0.0 | 3.19828E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73256E-06 | 0 | 0 |
| N/S | rs754569815  |
-0.798 | 0.999 | D | 0.594 | 0.616 | 0.424073947737 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| N/S | rs754569815 |
-0.798 | 0.999 | D | 0.594 | 0.616 | 0.424073947737 | gnomAD-4.0.0 | 4.79945E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30178E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -0.474 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| N/C | 0.9601 | likely_pathogenic | 0.9699 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| N/D | 0.9909 | likely_pathogenic | 0.9925 | pathogenic | -2.351 | Highly Destabilizing | 0.998 | D | 0.615 | neutral | D | 0.525652913 | None | None | N |
| N/E | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/F | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| N/G | 0.988 | likely_pathogenic | 0.9894 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.569 | neutral | None | None | None | None | N |
| N/H | 0.9839 | likely_pathogenic | 0.9874 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.555406643 | None | None | N |
| N/I | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | 0.194 | Stabilizing | 1.0 | D | 0.781 | deleterious | D | 0.567181022 | None | None | N |
| N/K | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.565913574 | None | None | N |
| N/L | 0.9836 | likely_pathogenic | 0.9853 | pathogenic | 0.194 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/M | 0.9956 | likely_pathogenic | 0.9962 | pathogenic | 0.327 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| N/P | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| N/Q | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/R | 0.9972 | likely_pathogenic | 0.9977 | pathogenic | -0.043 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| N/S | 0.84 | likely_pathogenic | 0.8481 | pathogenic | -0.873 | Destabilizing | 0.999 | D | 0.594 | neutral | D | 0.526120212 | None | None | N |
| N/T | 0.9703 | likely_pathogenic | 0.9736 | pathogenic | -0.576 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | N | 0.501201874 | None | None | N |
| N/V | 0.9941 | likely_pathogenic | 0.9948 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| N/Y | 0.9967 | likely_pathogenic | 0.9974 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.555406643 | 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.