Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4754 | 14485;14486;14487 | chr2:178738193;178738192;178738191 | chr2:179602920;179602919;179602918 |
| N2AB | 4437 | 13534;13535;13536 | chr2:178738193;178738192;178738191 | chr2:179602920;179602919;179602918 |
| N2A | 3510 | 10753;10754;10755 | chr2:178738193;178738192;178738191 | chr2:179602920;179602919;179602918 |
| N2B | 4391 | 13396;13397;13398 | chr2:178738193;178738192;178738191 | chr2:179602920;179602919;179602918 |
| Novex-1 | 4516 | 13771;13772;13773 | chr2:178738193;178738192;178738191 | chr2:179602920;179602919;179602918 |
| Novex-2 | 4583 | 13972;13973;13974 | chr2:178738193;178738192;178738191 | chr2:179602920;179602919;179602918 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs1012186680  |
None | 0.033 | N | 0.605 | 0.199 | 0.717156073737 | gnomAD-4.0.0 | 6.84252E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7343E-04 | 0 | 0 | 0 |
| I/T | None | None | None | N | 0.167 | 0.173 | 0.612396071159 | gnomAD-4.0.0 | 6.84252E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15942E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1799 | likely_benign | 0.2274 | benign | -1.594 | Destabilizing | 0.004 | N | 0.286 | neutral | None | None | None | None | N |
| I/C | 0.4735 | ambiguous | 0.5326 | ambiguous | -1.257 | Destabilizing | 0.245 | N | 0.488 | neutral | None | None | None | None | N |
| I/D | 0.42 | ambiguous | 0.5247 | ambiguous | -0.453 | Destabilizing | 0.044 | N | 0.601 | neutral | None | None | None | None | N |
| I/E | 0.2805 | likely_benign | 0.3451 | ambiguous | -0.413 | Destabilizing | 0.044 | N | 0.569 | neutral | None | None | None | None | N |
| I/F | 0.1172 | likely_benign | 0.1429 | benign | -1.081 | Destabilizing | None | N | 0.133 | neutral | N | 0.488013969 | None | None | N |
| I/G | 0.3887 | ambiguous | 0.5037 | ambiguous | -1.938 | Destabilizing | 0.018 | N | 0.488 | neutral | None | None | None | None | N |
| I/H | 0.2834 | likely_benign | 0.3366 | benign | -1.119 | Destabilizing | 0.497 | N | 0.561 | neutral | None | None | None | None | N |
| I/K | 0.1933 | likely_benign | 0.2342 | benign | -0.84 | Destabilizing | 0.018 | N | 0.545 | neutral | None | None | None | None | N |
| I/L | 0.0918 | likely_benign | 0.1 | benign | -0.712 | Destabilizing | None | N | 0.085 | neutral | N | 0.486902662 | None | None | N |
| I/M | 0.0843 | likely_benign | 0.0923 | benign | -0.728 | Destabilizing | None | N | 0.261 | neutral | N | 0.488013969 | None | None | N |
| I/N | 0.1477 | likely_benign | 0.1845 | benign | -0.721 | Destabilizing | 0.033 | N | 0.605 | neutral | N | 0.397192716 | None | None | N |
| I/P | 0.8664 | likely_pathogenic | 0.9302 | pathogenic | -0.975 | Destabilizing | 0.085 | N | 0.621 | neutral | None | None | None | None | N |
| I/Q | 0.2151 | likely_benign | 0.2603 | benign | -0.831 | Destabilizing | 0.044 | N | 0.631 | neutral | None | None | None | None | N |
| I/R | 0.1447 | likely_benign | 0.1844 | benign | -0.416 | Destabilizing | 0.044 | N | 0.623 | neutral | None | None | None | None | N |
| I/S | 0.1383 | likely_benign | 0.1719 | benign | -1.517 | Destabilizing | 0.001 | N | 0.24 | neutral | N | 0.484833154 | None | None | N |
| I/T | 0.1001 | likely_benign | 0.1138 | benign | -1.346 | Destabilizing | None | N | 0.167 | neutral | N | 0.484543749 | None | None | N |
| I/V | 0.0543 | likely_benign | 0.0561 | benign | -0.975 | Destabilizing | None | N | 0.088 | neutral | N | 0.486902662 | None | None | N |
| I/W | 0.6502 | likely_pathogenic | 0.7163 | pathogenic | -1.101 | Destabilizing | 0.788 | D | 0.561 | neutral | None | None | None | None | N |
| I/Y | 0.3393 | likely_benign | 0.3999 | ambiguous | -0.849 | Destabilizing | 0.022 | N | 0.523 | 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.