Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4743 | 14452;14453;14454 | chr2:178738226;178738225;178738224 | chr2:179602953;179602952;179602951 |
| N2AB | 4426 | 13501;13502;13503 | chr2:178738226;178738225;178738224 | chr2:179602953;179602952;179602951 |
| N2A | 3499 | 10720;10721;10722 | chr2:178738226;178738225;178738224 | chr2:179602953;179602952;179602951 |
| N2B | 4380 | 13363;13364;13365 | chr2:178738226;178738225;178738224 | chr2:179602953;179602952;179602951 |
| Novex-1 | 4505 | 13738;13739;13740 | chr2:178738226;178738225;178738224 | chr2:179602953;179602952;179602951 |
| Novex-2 | 4572 | 13939;13940;13941 | chr2:178738226;178738225;178738224 | chr2:179602953;179602952;179602951 |
| 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 | None | None | 0.549 | N | 0.391 | 0.153 | 0.149567049428 | gnomAD-4.0.0 | 1.5917E-06 | None | None | None | None | N | None | 5.65419E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | None | None | 0.81 | D | 0.327 | 0.253 | 0.227934060464 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.2729 | likely_benign | 0.3221 | benign | -0.27 | Destabilizing | 0.25 | N | 0.428 | neutral | None | None | None | None | N |
| S/C | 0.4239 | ambiguous | 0.4655 | ambiguous | -0.197 | Destabilizing | 0.99 | D | 0.335 | neutral | D | 0.650277919 | None | None | N |
| S/D | 0.7287 | likely_pathogenic | 0.76 | pathogenic | 0.076 | Stabilizing | 0.005 | N | 0.245 | neutral | None | None | None | None | N |
| S/E | 0.9324 | likely_pathogenic | 0.9372 | pathogenic | -0.033 | Destabilizing | 0.447 | N | 0.335 | neutral | None | None | None | None | N |
| S/F | 0.8306 | likely_pathogenic | 0.8588 | pathogenic | -0.954 | Destabilizing | 0.92 | D | 0.394 | neutral | None | None | None | None | N |
| S/G | 0.1035 | likely_benign | 0.1477 | benign | -0.345 | Destabilizing | 0.002 | N | 0.181 | neutral | N | 0.451716598 | None | None | N |
| S/H | 0.8517 | likely_pathogenic | 0.8563 | pathogenic | -0.845 | Destabilizing | 0.992 | D | 0.294 | neutral | None | None | None | None | N |
| S/I | 0.7974 | likely_pathogenic | 0.8231 | pathogenic | -0.204 | Destabilizing | 0.681 | D | 0.417 | neutral | D | 0.56265617 | None | None | N |
| S/K | 0.9749 | likely_pathogenic | 0.977 | pathogenic | -0.4 | Destabilizing | 0.617 | D | 0.359 | neutral | None | None | None | None | N |
| S/L | 0.4514 | ambiguous | 0.4936 | ambiguous | -0.204 | Destabilizing | 0.447 | N | 0.38 | neutral | None | None | None | None | N |
| S/M | 0.5844 | likely_pathogenic | 0.6122 | pathogenic | 0.063 | Stabilizing | 0.977 | D | 0.31 | neutral | None | None | None | None | N |
| S/N | 0.2982 | likely_benign | 0.3578 | ambiguous | -0.095 | Destabilizing | 0.549 | D | 0.391 | neutral | N | 0.461041485 | None | None | N |
| S/P | 0.9446 | likely_pathogenic | 0.9509 | pathogenic | -0.199 | Destabilizing | 0.92 | D | 0.326 | neutral | None | None | None | None | N |
| S/Q | 0.9314 | likely_pathogenic | 0.9372 | pathogenic | -0.369 | Destabilizing | 0.92 | D | 0.348 | neutral | None | None | None | None | N |
| S/R | 0.9626 | likely_pathogenic | 0.9699 | pathogenic | -0.181 | Destabilizing | 0.81 | D | 0.327 | neutral | D | 0.544496923 | None | None | N |
| S/T | 0.1411 | likely_benign | 0.1494 | benign | -0.212 | Destabilizing | 0.004 | N | 0.249 | neutral | N | 0.49103641 | None | None | N |
| S/V | 0.757 | likely_pathogenic | 0.786 | pathogenic | -0.199 | Destabilizing | 0.447 | N | 0.409 | neutral | None | None | None | None | N |
| S/W | 0.8683 | likely_pathogenic | 0.8744 | pathogenic | -0.988 | Destabilizing | 0.992 | D | 0.533 | neutral | None | None | None | None | N |
| S/Y | 0.7429 | likely_pathogenic | 0.7602 | pathogenic | -0.693 | Destabilizing | 0.92 | D | 0.389 | 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.