Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14451 | 43576;43577;43578 | chr2:178632655;178632654;178632653 | chr2:179497382;179497381;179497380 |
| N2AB | 12810 | 38653;38654;38655 | chr2:178632655;178632654;178632653 | chr2:179497382;179497381;179497380 |
| N2A | 11883 | 35872;35873;35874 | chr2:178632655;178632654;178632653 | chr2:179497382;179497381;179497380 |
| N2B | 5386 | 16381;16382;16383 | chr2:178632655;178632654;178632653 | chr2:179497382;179497381;179497380 |
| Novex-1 | 5511 | 16756;16757;16758 | chr2:178632655;178632654;178632653 | chr2:179497382;179497381;179497380 |
| Novex-2 | 5578 | 16957;16958;16959 | chr2:178632655;178632654;178632653 | chr2:179497382;179497381;179497380 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs768931150  |
0.276 | 0.993 | N | 0.613 | 0.373 | 0.464442853059 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs768931150 |
0.276 | 0.993 | N | 0.613 | 0.373 | 0.464442853059 | gnomAD-4.0.0 | 3.42159E-06 | None | None | None | None | N | None | 0 | 2.23654E-05 | None | 0 | 0 | None | 0 | 3.47102E-04 | 8.99603E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1596 | likely_benign | 0.162 | benign | 0.044 | Stabilizing | 0.977 | D | 0.523 | neutral | N | 0.505764972 | None | None | N |
| D/C | 0.5404 | ambiguous | 0.5473 | ambiguous | -0.045 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/E | 0.1145 | likely_benign | 0.1118 | benign | -0.257 | Destabilizing | 0.117 | N | 0.321 | neutral | N | 0.470216411 | None | None | N |
| D/F | 0.5582 | ambiguous | 0.5365 | ambiguous | -0.107 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/G | 0.1084 | likely_benign | 0.1141 | benign | -0.053 | Destabilizing | 0.977 | D | 0.551 | neutral | N | 0.509900253 | None | None | N |
| D/H | 0.2267 | likely_benign | 0.2194 | benign | 0.452 | Stabilizing | 0.999 | D | 0.637 | neutral | N | 0.511392063 | None | None | N |
| D/I | 0.3337 | likely_benign | 0.3343 | benign | 0.231 | Stabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/K | 0.2297 | likely_benign | 0.2399 | benign | 0.456 | Stabilizing | 0.99 | D | 0.564 | neutral | None | None | None | None | N |
| D/L | 0.3536 | ambiguous | 0.3576 | ambiguous | 0.231 | Stabilizing | 0.995 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/M | 0.5932 | likely_pathogenic | 0.573 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/N | 0.0937 | likely_benign | 0.094 | benign | 0.304 | Stabilizing | 0.993 | D | 0.613 | neutral | N | 0.507624979 | None | None | N |
| D/P | 0.542 | ambiguous | 0.534 | ambiguous | 0.187 | Stabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| D/Q | 0.2549 | likely_benign | 0.2505 | benign | 0.293 | Stabilizing | 0.99 | D | 0.663 | neutral | None | None | None | None | N |
| D/R | 0.2616 | likely_benign | 0.2653 | benign | 0.631 | Stabilizing | 0.995 | D | 0.625 | neutral | None | None | None | None | N |
| D/S | 0.1017 | likely_benign | 0.1037 | benign | 0.191 | Stabilizing | 0.983 | D | 0.557 | neutral | None | None | None | None | N |
| D/T | 0.2211 | likely_benign | 0.2195 | benign | 0.271 | Stabilizing | 0.995 | D | 0.58 | neutral | None | None | None | None | N |
| D/V | 0.2056 | likely_benign | 0.212 | benign | 0.187 | Stabilizing | 0.997 | D | 0.687 | prob.neutral | D | 0.622489609 | None | None | N |
| D/W | 0.837 | likely_pathogenic | 0.8296 | pathogenic | -0.091 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/Y | 0.2255 | likely_benign | 0.2263 | benign | 0.111 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.624220697 | 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.