Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30848 | 92767;92768;92769 | chr2:178549084;178549083;178549082 | chr2:179413811;179413810;179413809 |
| N2AB | 29207 | 87844;87845;87846 | chr2:178549084;178549083;178549082 | chr2:179413811;179413810;179413809 |
| N2A | 28280 | 85063;85064;85065 | chr2:178549084;178549083;178549082 | chr2:179413811;179413810;179413809 |
| N2B | 21783 | 65572;65573;65574 | chr2:178549084;178549083;178549082 | chr2:179413811;179413810;179413809 |
| Novex-1 | 21908 | 65947;65948;65949 | chr2:178549084;178549083;178549082 | chr2:179413811;179413810;179413809 |
| Novex-2 | 21975 | 66148;66149;66150 | chr2:178549084;178549083;178549082 | chr2:179413811;179413810;179413809 |
| 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/A | rs746794842  |
-0.806 | 1.0 | N | 0.709 | 0.567 | 0.53689752714 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| D/A | rs746794842 |
-0.806 | 1.0 | N | 0.709 | 0.567 | 0.53689752714 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/A | rs746794842 |
-0.806 | 1.0 | N | 0.709 | 0.567 | 0.53689752714 | gnomAD-4.0.0 | 8.67516E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.1866E-05 | 0 | 0 |
| D/H | None | None | 1.0 | N | 0.641 | 0.536 | 0.383921772103 | gnomAD-4.0.0 | 6.84181E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65656E-05 |
| D/N | None | None | 1.0 | N | 0.669 | 0.439 | 0.310458034454 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | I | None | 2.98775E-05 | 2.23654E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.6568 | likely_pathogenic | 0.761 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.510174642 | None | None | I |
| D/C | 0.8923 | likely_pathogenic | 0.9348 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | I |
| D/E | 0.6879 | likely_pathogenic | 0.7402 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.439 | neutral | N | 0.499285636 | None | None | I |
| D/F | 0.948 | likely_pathogenic | 0.9707 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | I |
| D/G | 0.6316 | likely_pathogenic | 0.7261 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.51334142 | None | None | I |
| D/H | 0.7245 | likely_pathogenic | 0.8137 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.509453853 | None | None | I |
| D/I | 0.9062 | likely_pathogenic | 0.944 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| D/K | 0.9181 | likely_pathogenic | 0.9505 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| D/L | 0.8805 | likely_pathogenic | 0.9209 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| D/M | 0.9625 | likely_pathogenic | 0.977 | pathogenic | 0.656 | Stabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | I |
| D/N | 0.1973 | likely_benign | 0.2017 | benign | -0.853 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.467965424 | None | None | I |
| D/P | 0.9317 | likely_pathogenic | 0.9498 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| D/Q | 0.8634 | likely_pathogenic | 0.9099 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| D/R | 0.8871 | likely_pathogenic | 0.9328 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| D/S | 0.3081 | likely_benign | 0.38 | ambiguous | -1.132 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| D/T | 0.6653 | likely_pathogenic | 0.733 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| D/V | 0.7989 | likely_pathogenic | 0.8707 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.515694824 | None | None | I |
| D/W | 0.984 | likely_pathogenic | 0.9915 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | I |
| D/Y | 0.6914 | likely_pathogenic | 0.7981 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.539839466 | 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.