Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15378 | 46357;46358;46359 | chr2:178620389;178620388;178620387 | chr2:179485116;179485115;179485114 |
| N2AB | 13737 | 41434;41435;41436 | chr2:178620389;178620388;178620387 | chr2:179485116;179485115;179485114 |
| N2A | 12810 | 38653;38654;38655 | chr2:178620389;178620388;178620387 | chr2:179485116;179485115;179485114 |
| N2B | 6313 | 19162;19163;19164 | chr2:178620389;178620388;178620387 | chr2:179485116;179485115;179485114 |
| Novex-1 | 6438 | 19537;19538;19539 | chr2:178620389;178620388;178620387 | chr2:179485116;179485115;179485114 |
| Novex-2 | 6505 | 19738;19739;19740 | chr2:178620389;178620388;178620387 | chr2:179485116;179485115;179485114 |
| 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/G | rs1443484418  |
-0.512 | 0.996 | N | 0.489 | 0.305 | 0.215109475489 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1443484418 |
-0.512 | 0.996 | N | 0.489 | 0.305 | 0.215109475489 | gnomAD-4.0.0 | 1.59502E-06 | None | None | None | None | N | None | 5.68958E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs1301703106 |
None | 1.0 | N | 0.664 | 0.297 | 0.246773566709 | gnomAD-4.0.0 | 1.59506E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86494E-06 | 0 | 0 |
| D/N | rs1301703106 |
0.066 | 0.996 | N | 0.502 | 0.278 | 0.215109475489 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| D/N | rs1301703106 |
0.066 | 0.996 | N | 0.502 | 0.278 | 0.215109475489 | gnomAD-4.0.0 | 1.59506E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86494E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3818 | ambiguous | 0.3752 | ambiguous | -0.543 | Destabilizing | 0.992 | D | 0.503 | neutral | N | 0.440816852 | None | None | N |
| D/C | 0.8272 | likely_pathogenic | 0.8325 | pathogenic | -0.074 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/E | 0.3223 | likely_benign | 0.3392 | benign | -0.541 | Destabilizing | 0.996 | D | 0.454 | neutral | N | 0.479101991 | None | None | N |
| D/F | 0.8081 | likely_pathogenic | 0.8367 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/G | 0.4019 | ambiguous | 0.4024 | ambiguous | -0.803 | Destabilizing | 0.996 | D | 0.489 | neutral | N | 0.457183218 | None | None | N |
| D/H | 0.5007 | ambiguous | 0.5303 | ambiguous | -0.482 | Destabilizing | 1.0 | D | 0.664 | neutral | N | 0.506647873 | None | None | N |
| D/I | 0.7431 | likely_pathogenic | 0.756 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/K | 0.7453 | likely_pathogenic | 0.7438 | pathogenic | 0.047 | Stabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| D/L | 0.7375 | likely_pathogenic | 0.7639 | pathogenic | 0.113 | Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| D/M | 0.8535 | likely_pathogenic | 0.8799 | pathogenic | 0.428 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/N | 0.1835 | likely_benign | 0.201 | benign | -0.323 | Destabilizing | 0.996 | D | 0.502 | neutral | N | 0.447530209 | None | None | N |
| D/P | 0.977 | likely_pathogenic | 0.9794 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| D/Q | 0.5494 | ambiguous | 0.5905 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| D/R | 0.7778 | likely_pathogenic | 0.7922 | pathogenic | 0.179 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/S | 0.242 | likely_benign | 0.2583 | benign | -0.476 | Destabilizing | 0.927 | D | 0.235 | neutral | None | None | None | None | N |
| D/T | 0.5175 | ambiguous | 0.5369 | ambiguous | -0.272 | Destabilizing | 0.994 | D | 0.54 | neutral | None | None | None | None | N |
| D/V | 0.5055 | ambiguous | 0.5163 | ambiguous | -0.082 | Destabilizing | 0.999 | D | 0.741 | deleterious | N | 0.439882536 | None | None | N |
| D/W | 0.9542 | likely_pathogenic | 0.9643 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| D/Y | 0.364 | ambiguous | 0.4138 | ambiguous | -0.121 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.505800108 | 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.