Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35970 | 108133;108134;108135 | chr2:178527080;178527079;178527078 | chr2:179391807;179391806;179391805 |
| N2AB | 34329 | 103210;103211;103212 | chr2:178527080;178527079;178527078 | chr2:179391807;179391806;179391805 |
| N2A | 33402 | 100429;100430;100431 | chr2:178527080;178527079;178527078 | chr2:179391807;179391806;179391805 |
| N2B | 26905 | 80938;80939;80940 | chr2:178527080;178527079;178527078 | chr2:179391807;179391806;179391805 |
| Novex-1 | 27030 | 81313;81314;81315 | chr2:178527080;178527079;178527078 | chr2:179391807;179391806;179391805 |
| Novex-2 | 27097 | 81514;81515;81516 | chr2:178527080;178527079;178527078 | chr2:179391807;179391806;179391805 |
| 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 | rs765869850  |
None | 0.999 | N | 0.765 | 0.378 | 0.433713641954 | gnomAD-4.0.0 | 2.0525E-06 | None | None | None | -1.097(OBSL1) -0.06(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69823E-06 | 0 | 0 |
| T/N | None | -0.791 | 0.999 | N | 0.656 | 0.385 | 0.405979908929 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | -0.763(OBSL1) -0.257(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| T/N | None | -0.791 | 0.999 | N | 0.656 | 0.385 | 0.405979908929 | gnomAD-4.0.0 | 2.0525E-06 | None | None | None | -0.763(OBSL1) -0.257(OBSCN) | N | None | 0 | 0 | None | 0 | 2.51927E-05 | None | 0 | 0 | 0 | 2.319E-05 | 0 |
| T/S | rs765869850 |
-1.237 | 0.905 | N | 0.393 | 0.272 | 0.177238962908 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | -0.901(OBSL1) -0.039(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| T/S | rs765869850 |
-1.237 | 0.905 | N | 0.393 | 0.272 | 0.177238962908 | gnomAD-4.0.0 | 6.84166E-07 | None | None | None | -0.901(OBSL1) -0.039(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9941E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1631 | likely_benign | 0.169 | benign | -1.407 | Destabilizing | 0.981 | D | 0.506 | neutral | N | 0.485841145 | None | -0.913(OBSL1) 0.143(OBSCN) | N |
| T/C | 0.5884 | likely_pathogenic | 0.5952 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | -0.706(OBSL1) 0.138(OBSCN) | N |
| T/D | 0.6638 | likely_pathogenic | 0.6558 | pathogenic | -0.87 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | -0.524(OBSL1) -0.015(OBSCN) | N |
| T/E | 0.4211 | ambiguous | 0.408 | ambiguous | -0.764 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | -0.59(OBSL1) -0.127(OBSCN) | N |
| T/F | 0.4024 | ambiguous | 0.4091 | ambiguous | -1.483 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | -1.029(OBSL1) 0.022(OBSCN) | N |
| T/G | 0.5583 | ambiguous | 0.5751 | pathogenic | -1.708 | Destabilizing | 0.997 | D | 0.591 | neutral | None | None | None | -0.861(OBSL1) 0.187(OBSCN) | N |
| T/H | 0.2833 | likely_benign | 0.2824 | benign | -1.842 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | -0.891(OBSL1) 0.457(OBSCN) | N |
| T/I | 0.2581 | likely_benign | 0.2501 | benign | -0.652 | Destabilizing | 0.999 | D | 0.765 | deleterious | N | 0.514816847 | None | -1.097(OBSL1) -0.06(OBSCN) | N |
| T/K | 0.271 | likely_benign | 0.2551 | benign | -0.57 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | -1.212(OBSL1) -0.338(OBSCN) | N |
| T/L | 0.1948 | likely_benign | 0.1875 | benign | -0.652 | Destabilizing | 0.998 | D | 0.561 | neutral | None | None | None | -1.097(OBSL1) -0.06(OBSCN) | N |
| T/M | 0.1358 | likely_benign | 0.1391 | benign | -0.445 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | -0.908(OBSL1) 0.162(OBSCN) | N |
| T/N | 0.2459 | likely_benign | 0.2439 | benign | -0.892 | Destabilizing | 0.999 | D | 0.656 | neutral | N | 0.471713363 | None | -0.763(OBSL1) -0.257(OBSCN) | N |
| T/P | 0.7688 | likely_pathogenic | 0.7412 | pathogenic | -0.876 | Destabilizing | 0.999 | D | 0.765 | deleterious | N | 0.516569153 | None | -1.031(OBSL1) 0.019(OBSCN) | N |
| T/Q | 0.2676 | likely_benign | 0.2647 | benign | -0.977 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | -0.804(OBSL1) -0.195(OBSCN) | N |
| T/R | 0.1968 | likely_benign | 0.1847 | benign | -0.517 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | -1.296(OBSL1) -0.538(OBSCN) | N |
| T/S | 0.162 | likely_benign | 0.1745 | benign | -1.28 | Destabilizing | 0.905 | D | 0.393 | neutral | N | 0.510621749 | None | -0.901(OBSL1) -0.039(OBSCN) | N |
| T/V | 0.2234 | likely_benign | 0.2226 | benign | -0.876 | Destabilizing | 0.998 | D | 0.517 | neutral | None | None | None | -1.031(OBSL1) 0.019(OBSCN) | N |
| T/W | 0.7701 | likely_pathogenic | 0.7734 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | -1.051(OBSL1) -0.011(OBSCN) | N |
| T/Y | 0.4 | ambiguous | 0.3866 | ambiguous | -1.08 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | -0.957(OBSL1) 0.233(OBSCN) | 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.