Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21076 | 63451;63452;63453 | chr2:178588181;178588180;178588179 | chr2:179452908;179452907;179452906 |
| N2AB | 19435 | 58528;58529;58530 | chr2:178588181;178588180;178588179 | chr2:179452908;179452907;179452906 |
| N2A | 18508 | 55747;55748;55749 | chr2:178588181;178588180;178588179 | chr2:179452908;179452907;179452906 |
| N2B | 12011 | 36256;36257;36258 | chr2:178588181;178588180;178588179 | chr2:179452908;179452907;179452906 |
| Novex-1 | 12136 | 36631;36632;36633 | chr2:178588181;178588180;178588179 | chr2:179452908;179452907;179452906 |
| Novex-2 | 12203 | 36832;36833;36834 | chr2:178588181;178588180;178588179 | chr2:179452908;179452907;179452906 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs972090108  |
-0.305 | 0.966 | N | 0.36 | 0.322 | 0.33110744837 | gnomAD-2.1.1 | 7.33E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.6E-05 | 0 |
| T/I | rs972090108 |
-0.305 | 0.966 | N | 0.36 | 0.322 | 0.33110744837 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs972090108 |
-0.305 | 0.966 | N | 0.36 | 0.322 | 0.33110744837 | gnomAD-4.0.0 | 2.50761E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.57127E-06 | 0 | 1.6239E-05 |
| T/R | rs972090108 |
-0.406 | 0.934 | N | 0.351 | 0.331 | 0.544520820351 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.13E-06 | 0 |
| T/R | rs972090108 |
-0.406 | 0.934 | N | 0.351 | 0.331 | 0.544520820351 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/R | rs972090108 |
-0.406 | 0.934 | N | 0.351 | 0.331 | 0.544520820351 | gnomAD-4.0.0 | 1.25381E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.5709E-07 | 0 | 1.6239E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1336 | likely_benign | 0.1478 | benign | -0.817 | Destabilizing | 0.267 | N | 0.271 | neutral | N | 0.463492311 | None | None | N |
| T/C | 0.4312 | ambiguous | 0.4047 | ambiguous | -0.996 | Destabilizing | 0.998 | D | 0.356 | neutral | None | None | None | None | N |
| T/D | 0.8267 | likely_pathogenic | 0.8248 | pathogenic | -1.484 | Destabilizing | 0.842 | D | 0.394 | neutral | None | None | None | None | N |
| T/E | 0.6609 | likely_pathogenic | 0.6815 | pathogenic | -1.441 | Destabilizing | 0.842 | D | 0.404 | neutral | None | None | None | None | N |
| T/F | 0.4471 | ambiguous | 0.4373 | ambiguous | -1.139 | Destabilizing | 0.991 | D | 0.451 | neutral | None | None | None | None | N |
| T/G | 0.4376 | ambiguous | 0.4268 | ambiguous | -1.052 | Destabilizing | 0.525 | D | 0.402 | neutral | None | None | None | None | N |
| T/H | 0.4543 | ambiguous | 0.4041 | ambiguous | -1.435 | Destabilizing | 0.991 | D | 0.427 | neutral | None | None | None | None | N |
| T/I | 0.3476 | ambiguous | 0.381 | ambiguous | -0.274 | Destabilizing | 0.966 | D | 0.36 | neutral | N | 0.418237237 | None | None | N |
| T/K | 0.4534 | ambiguous | 0.4627 | ambiguous | -0.677 | Destabilizing | 0.801 | D | 0.4 | neutral | N | 0.48188607 | None | None | N |
| T/L | 0.2364 | likely_benign | 0.2471 | benign | -0.274 | Destabilizing | 0.842 | D | 0.428 | neutral | None | None | None | None | N |
| T/M | 0.1355 | likely_benign | 0.1533 | benign | -0.018 | Destabilizing | 0.991 | D | 0.365 | neutral | None | None | None | None | N |
| T/N | 0.3374 | likely_benign | 0.3254 | benign | -0.998 | Destabilizing | 0.842 | D | 0.385 | neutral | None | None | None | None | N |
| T/P | 0.8379 | likely_pathogenic | 0.8488 | pathogenic | -0.426 | Destabilizing | 0.891 | D | 0.355 | neutral | N | 0.49533537 | None | None | N |
| T/Q | 0.4162 | ambiguous | 0.4293 | ambiguous | -1.241 | Destabilizing | 0.974 | D | 0.353 | neutral | None | None | None | None | N |
| T/R | 0.3591 | ambiguous | 0.3758 | ambiguous | -0.465 | Destabilizing | 0.934 | D | 0.351 | neutral | N | 0.488985401 | None | None | N |
| T/S | 0.1385 | likely_benign | 0.1357 | benign | -1.108 | Destabilizing | 0.007 | N | 0.101 | neutral | N | 0.416970587 | None | None | N |
| T/V | 0.2318 | likely_benign | 0.2439 | benign | -0.426 | Destabilizing | 0.842 | D | 0.381 | neutral | None | None | None | None | N |
| T/W | 0.7949 | likely_pathogenic | 0.7671 | pathogenic | -1.164 | Destabilizing | 0.998 | D | 0.487 | neutral | None | None | None | None | N |
| T/Y | 0.4273 | ambiguous | 0.401 | ambiguous | -0.794 | Destabilizing | 0.991 | D | 0.44 | 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.