Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31940 | 96043;96044;96045 | chr2:178544411;178544410;178544409 | chr2:179409138;179409137;179409136 |
| N2AB | 30299 | 91120;91121;91122 | chr2:178544411;178544410;178544409 | chr2:179409138;179409137;179409136 |
| N2A | 29372 | 88339;88340;88341 | chr2:178544411;178544410;178544409 | chr2:179409138;179409137;179409136 |
| N2B | 22875 | 68848;68849;68850 | chr2:178544411;178544410;178544409 | chr2:179409138;179409137;179409136 |
| Novex-1 | 23000 | 69223;69224;69225 | chr2:178544411;178544410;178544409 | chr2:179409138;179409137;179409136 |
| Novex-2 | 23067 | 69424;69425;69426 | chr2:178544411;178544410;178544409 | chr2:179409138;179409137;179409136 |
| 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/H | None | None | 1.0 | N | 0.625 | 0.421 | 0.309839678437 | gnomAD-4.0.0 | 6.84242E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99536E-07 | 0 | 0 |
| D/N | rs188213186  |
0.254 | 0.884 | N | 0.334 | 0.282 | None | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| D/N | rs188213186 |
0.254 | 0.884 | N | 0.334 | 0.282 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs188213186 |
0.254 | 0.884 | N | 0.334 | 0.282 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/N | rs188213186 |
0.254 | 0.884 | N | 0.334 | 0.282 | None | gnomAD-4.0.0 | 2.47871E-06 | None | None | None | None | I | None | 2.66574E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69534E-06 | 0 | 0 |
| D/V | None | None | 1.0 | N | 0.659 | 0.449 | 0.466991082792 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-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 | 0.1254 | likely_benign | 0.1159 | benign | -0.124 | Destabilizing | 0.999 | D | 0.605 | neutral | N | 0.412930204 | None | None | I |
| D/C | 0.5381 | ambiguous | 0.4966 | ambiguous | 0.108 | Stabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| D/E | 0.1101 | likely_benign | 0.1141 | benign | -0.19 | Destabilizing | 0.996 | D | 0.43 | neutral | N | 0.399806191 | None | None | I |
| D/F | 0.6236 | likely_pathogenic | 0.5675 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| D/G | 0.1594 | likely_benign | 0.1377 | benign | -0.294 | Destabilizing | 0.996 | D | 0.589 | neutral | N | 0.440194163 | None | None | I |
| D/H | 0.2937 | likely_benign | 0.2474 | benign | 0.082 | Stabilizing | 1.0 | D | 0.625 | neutral | N | 0.457702489 | None | None | I |
| D/I | 0.3386 | likely_benign | 0.3024 | benign | 0.268 | Stabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | I |
| D/K | 0.3103 | likely_benign | 0.2858 | benign | 0.417 | Stabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | I |
| D/L | 0.3701 | ambiguous | 0.3366 | benign | 0.268 | Stabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| D/M | 0.5272 | ambiguous | 0.5039 | ambiguous | 0.324 | Stabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | I |
| D/N | 0.0986 | likely_benign | 0.093 | benign | 0.208 | Stabilizing | 0.884 | D | 0.334 | neutral | N | 0.439847447 | None | None | I |
| D/P | 0.3523 | ambiguous | 0.3512 | ambiguous | 0.159 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| D/Q | 0.2889 | likely_benign | 0.2631 | benign | 0.229 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| D/R | 0.3768 | ambiguous | 0.3256 | benign | 0.561 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | I |
| D/S | 0.1166 | likely_benign | 0.1067 | benign | 0.09 | Stabilizing | 0.997 | D | 0.576 | neutral | None | None | None | None | I |
| D/T | 0.2085 | likely_benign | 0.1977 | benign | 0.221 | Stabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | I |
| D/V | 0.1964 | likely_benign | 0.1715 | benign | 0.159 | Stabilizing | 1.0 | D | 0.659 | neutral | N | 0.441020883 | None | None | I |
| D/W | 0.8928 | likely_pathogenic | 0.8618 | pathogenic | -0.074 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| D/Y | 0.2759 | likely_benign | 0.2244 | benign | 0.075 | Stabilizing | 1.0 | D | 0.63 | neutral | N | 0.50384021 | None | None | I |
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.