Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16921 | 50986;50987;50988 | chr2:178611468;178611467;178611466 | chr2:179476195;179476194;179476193 |
| N2AB | 15280 | 46063;46064;46065 | chr2:178611468;178611467;178611466 | chr2:179476195;179476194;179476193 |
| N2A | 14353 | 43282;43283;43284 | chr2:178611468;178611467;178611466 | chr2:179476195;179476194;179476193 |
| N2B | 7856 | 23791;23792;23793 | chr2:178611468;178611467;178611466 | chr2:179476195;179476194;179476193 |
| Novex-1 | 7981 | 24166;24167;24168 | chr2:178611468;178611467;178611466 | chr2:179476195;179476194;179476193 |
| Novex-2 | 8048 | 24367;24368;24369 | chr2:178611468;178611467;178611466 | chr2:179476195;179476194;179476193 |
| 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 | None | None | 0.978 | N | 0.653 | 0.479 | 0.386071988338 | gnomAD-4.0.0 | 1.59299E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| D/E | None | None | 0.198 | N | 0.259 | 0.104 | 0.152612264143 | gnomAD-4.0.0 | 6.37215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14454E-05 | 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 | 0.3696 | ambiguous | 0.462 | ambiguous | -0.345 | Destabilizing | 0.978 | D | 0.653 | neutral | N | 0.454664117 | None | None | N |
| D/C | 0.8007 | likely_pathogenic | 0.8862 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| D/E | 0.1697 | likely_benign | 0.2471 | benign | -0.393 | Destabilizing | 0.198 | N | 0.259 | neutral | N | 0.401172946 | None | None | N |
| D/F | 0.7912 | likely_pathogenic | 0.854 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/G | 0.1826 | likely_benign | 0.2192 | benign | -0.601 | Destabilizing | 0.989 | D | 0.677 | prob.neutral | N | 0.3169498 | None | None | N |
| D/H | 0.548 | ambiguous | 0.6314 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.460440471 | None | None | N |
| D/I | 0.7799 | likely_pathogenic | 0.8422 | pathogenic | 0.299 | Stabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| D/K | 0.64 | likely_pathogenic | 0.7408 | pathogenic | -0.126 | Destabilizing | 0.983 | D | 0.669 | neutral | None | None | None | None | N |
| D/L | 0.6047 | likely_pathogenic | 0.7142 | pathogenic | 0.299 | Stabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| D/M | 0.7973 | likely_pathogenic | 0.8913 | pathogenic | 0.38 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/N | 0.1427 | likely_benign | 0.1773 | benign | -0.423 | Destabilizing | 0.989 | D | 0.647 | neutral | N | 0.42451874 | None | None | N |
| D/P | 0.9393 | likely_pathogenic | 0.9522 | pathogenic | 0.108 | Stabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| D/Q | 0.5 | ambiguous | 0.6317 | pathogenic | -0.347 | Destabilizing | 0.995 | D | 0.639 | neutral | None | None | None | None | N |
| D/R | 0.6872 | likely_pathogenic | 0.7534 | pathogenic | 0.163 | Stabilizing | 0.995 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/S | 0.2295 | likely_benign | 0.2866 | benign | -0.593 | Destabilizing | 0.983 | D | 0.594 | neutral | None | None | None | None | N |
| D/T | 0.4996 | ambiguous | 0.6312 | pathogenic | -0.396 | Destabilizing | 0.998 | D | 0.633 | neutral | None | None | None | None | N |
| D/V | 0.5744 | likely_pathogenic | 0.6592 | pathogenic | 0.108 | Stabilizing | 0.997 | D | 0.727 | prob.delet. | N | 0.48346481 | None | None | N |
| D/W | 0.943 | likely_pathogenic | 0.9695 | pathogenic | 0.094 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| D/Y | 0.4468 | ambiguous | 0.5118 | ambiguous | 0.16 | Stabilizing | 1.0 | D | 0.747 | deleterious | N | 0.466352449 | 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.