Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29882 | 89869;89870;89871 | chr2:178553256;178553255;178553254 | chr2:179417983;179417982;179417981 |
| N2AB | 28241 | 84946;84947;84948 | chr2:178553256;178553255;178553254 | chr2:179417983;179417982;179417981 |
| N2A | 27314 | 82165;82166;82167 | chr2:178553256;178553255;178553254 | chr2:179417983;179417982;179417981 |
| N2B | 20817 | 62674;62675;62676 | chr2:178553256;178553255;178553254 | chr2:179417983;179417982;179417981 |
| Novex-1 | 20942 | 63049;63050;63051 | chr2:178553256;178553255;178553254 | chr2:179417983;179417982;179417981 |
| Novex-2 | 21009 | 63250;63251;63252 | chr2:178553256;178553255;178553254 | chr2:179417983;179417982;179417981 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs755022770  |
0.162 | 0.351 | N | 0.203 | 0.153 | None | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 1.15882E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| S/N | rs755022770 |
0.162 | 0.351 | N | 0.203 | 0.153 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs755022770 |
0.162 | 0.351 | N | 0.203 | 0.153 | None | gnomAD-4.0.0 | 2.10834E-05 | None | None | None | None | N | None | 1.33451E-05 | 6.66733E-05 | None | 0 | 2.22777E-05 | None | 0 | 3.28839E-04 | 2.03417E-05 | 0 | 3.20256E-05 |
| S/R | None | None | 0.351 | N | 0.409 | 0.205 | 0.251639045875 | gnomAD-4.0.0 | 2.40068E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62504E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.075 | likely_benign | 0.0734 | benign | -0.221 | Destabilizing | 0.004 | N | 0.173 | neutral | None | None | None | None | N |
| S/C | 0.1155 | likely_benign | 0.1069 | benign | -0.252 | Destabilizing | 0.936 | D | 0.332 | neutral | D | 0.535929278 | None | None | N |
| S/D | 0.1904 | likely_benign | 0.1819 | benign | -0.019 | Destabilizing | 0.264 | N | 0.168 | neutral | None | None | None | None | N |
| S/E | 0.2559 | likely_benign | 0.2536 | benign | -0.128 | Destabilizing | 0.01 | N | 0.173 | neutral | None | None | None | None | N |
| S/F | 0.1763 | likely_benign | 0.1463 | benign | -0.929 | Destabilizing | 0.716 | D | 0.354 | neutral | None | None | None | None | N |
| S/G | 0.0704 | likely_benign | 0.0706 | benign | -0.29 | Destabilizing | 0.001 | N | 0.162 | neutral | N | 0.480286639 | None | None | N |
| S/H | 0.2132 | likely_benign | 0.2077 | benign | -0.73 | Destabilizing | 0.94 | D | 0.339 | neutral | None | None | None | None | N |
| S/I | 0.1037 | likely_benign | 0.0941 | benign | -0.174 | Destabilizing | 0.002 | N | 0.232 | neutral | N | 0.494101298 | None | None | N |
| S/K | 0.294 | likely_benign | 0.3066 | benign | -0.41 | Destabilizing | 0.418 | N | 0.168 | neutral | None | None | None | None | N |
| S/L | 0.0828 | likely_benign | 0.0784 | benign | -0.174 | Destabilizing | 0.049 | N | 0.307 | neutral | None | None | None | None | N |
| S/M | 0.1401 | likely_benign | 0.1336 | benign | -0.001 | Destabilizing | 0.716 | D | 0.342 | neutral | None | None | None | None | N |
| S/N | 0.0717 | likely_benign | 0.0771 | benign | -0.137 | Destabilizing | 0.351 | N | 0.203 | neutral | N | 0.462527597 | None | None | N |
| S/P | 0.1042 | likely_benign | 0.1104 | benign | -0.164 | Destabilizing | 0.593 | D | 0.389 | neutral | None | None | None | None | N |
| S/Q | 0.2669 | likely_benign | 0.2783 | benign | -0.394 | Destabilizing | 0.716 | D | 0.269 | neutral | None | None | None | None | N |
| S/R | 0.289 | likely_benign | 0.2788 | benign | -0.161 | Destabilizing | 0.351 | N | 0.409 | neutral | N | 0.495293377 | None | None | N |
| S/T | 0.0691 | likely_benign | 0.0676 | benign | -0.23 | Destabilizing | 0.001 | N | 0.154 | neutral | N | 0.46460511 | None | None | N |
| S/V | 0.1134 | likely_benign | 0.1051 | benign | -0.164 | Destabilizing | 0.049 | N | 0.309 | neutral | None | None | None | None | N |
| S/W | 0.2724 | likely_benign | 0.2296 | benign | -0.987 | Destabilizing | 0.983 | D | 0.36 | neutral | None | None | None | None | N |
| S/Y | 0.1569 | likely_benign | 0.1379 | benign | -0.68 | Destabilizing | 0.836 | D | 0.351 | 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.