Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8810 | 26653;26654;26655 | chr2:178714346;178714345;178714344 | chr2:179579073;179579072;179579071 |
| N2AB | 8493 | 25702;25703;25704 | chr2:178714346;178714345;178714344 | chr2:179579073;179579072;179579071 |
| N2A | 7566 | 22921;22922;22923 | chr2:178714346;178714345;178714344 | chr2:179579073;179579072;179579071 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs781752797  |
-1.302 | 0.241 | D | 0.373 | 0.304 | 0.373357554552 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 1.65948E-04 |
| Q/H | rs781752797 |
-1.302 | 0.241 | D | 0.373 | 0.304 | 0.373357554552 | gnomAD-4.0.0 | 9.57938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.7456E-05 | 0 | 2.69853E-06 | 0 | 1.49081E-04 |
| Q/L | rs934473433 |
0.187 | 0.989 | D | 0.642 | 0.434 | 0.554881495044 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| Q/L | rs934473433 |
0.187 | 0.989 | D | 0.642 | 0.434 | 0.554881495044 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/L | rs934473433 |
0.187 | 0.989 | D | 0.642 | 0.434 | 0.554881495044 | gnomAD-4.0.0 | 5.12471E-06 | None | None | None | None | N | None | 1.69159E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17992E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3941 | ambiguous | 0.463 | ambiguous | -0.952 | Destabilizing | 0.997 | D | 0.572 | neutral | None | None | None | None | N |
| Q/C | 0.6933 | likely_pathogenic | 0.8297 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| Q/D | 0.7842 | likely_pathogenic | 0.8782 | pathogenic | -1.605 | Destabilizing | 0.989 | D | 0.546 | neutral | None | None | None | None | N |
| Q/E | 0.1184 | likely_benign | 0.1411 | benign | -1.35 | Destabilizing | 0.95 | D | 0.518 | neutral | N | 0.486671107 | None | None | N |
| Q/F | 0.759 | likely_pathogenic | 0.8329 | pathogenic | -0.304 | Destabilizing | 0.998 | D | 0.724 | prob.delet. | None | None | None | None | N |
| Q/G | 0.5402 | ambiguous | 0.6706 | pathogenic | -1.412 | Destabilizing | 0.997 | D | 0.642 | neutral | None | None | None | None | N |
| Q/H | 0.3282 | likely_benign | 0.4426 | ambiguous | -1.055 | Destabilizing | 0.241 | N | 0.373 | neutral | D | 0.529077876 | None | None | N |
| Q/I | 0.3781 | ambiguous | 0.4259 | ambiguous | 0.298 | Stabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| Q/K | 0.1324 | likely_benign | 0.1729 | benign | -0.537 | Destabilizing | 0.901 | D | 0.556 | neutral | N | 0.478819627 | None | None | N |
| Q/L | 0.1803 | likely_benign | 0.2289 | benign | 0.298 | Stabilizing | 0.989 | D | 0.642 | neutral | D | 0.53367562 | None | None | N |
| Q/M | 0.4227 | ambiguous | 0.4535 | ambiguous | 0.534 | Stabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| Q/N | 0.5618 | ambiguous | 0.6518 | pathogenic | -1.329 | Destabilizing | 0.978 | D | 0.543 | neutral | None | None | None | None | N |
| Q/P | 0.8927 | likely_pathogenic | 0.958 | pathogenic | -0.091 | Destabilizing | 0.999 | D | 0.621 | neutral | D | 0.527425156 | None | None | N |
| Q/R | 0.121 | likely_benign | 0.1658 | benign | -0.704 | Destabilizing | 0.082 | N | 0.405 | neutral | N | 0.490980848 | None | None | N |
| Q/S | 0.4824 | ambiguous | 0.5368 | ambiguous | -1.554 | Destabilizing | 0.997 | D | 0.564 | neutral | None | None | None | None | N |
| Q/T | 0.3386 | likely_benign | 0.4038 | ambiguous | -1.102 | Destabilizing | 0.92 | D | 0.576 | neutral | None | None | None | None | N |
| Q/V | 0.2819 | likely_benign | 0.3136 | benign | -0.091 | Destabilizing | 0.992 | D | 0.675 | neutral | None | None | None | None | N |
| Q/W | 0.6613 | likely_pathogenic | 0.8096 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| Q/Y | 0.5718 | likely_pathogenic | 0.6927 | pathogenic | 0.009 | Stabilizing | 0.997 | D | 0.625 | 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.