Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33279 | 100060;100061;100062 | chr2:178537372;178537371;178537370 | chr2:179402099;179402098;179402097 |
| N2AB | 31638 | 95137;95138;95139 | chr2:178537372;178537371;178537370 | chr2:179402099;179402098;179402097 |
| N2A | 30711 | 92356;92357;92358 | chr2:178537372;178537371;178537370 | chr2:179402099;179402098;179402097 |
| N2B | 24214 | 72865;72866;72867 | chr2:178537372;178537371;178537370 | chr2:179402099;179402098;179402097 |
| Novex-1 | 24339 | 73240;73241;73242 | chr2:178537372;178537371;178537370 | chr2:179402099;179402098;179402097 |
| Novex-2 | 24406 | 73441;73442;73443 | chr2:178537372;178537371;178537370 | chr2:179402099;179402098;179402097 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs770098799  |
-1.51 | 0.998 | N | 0.455 | 0.335 | 0.61771375628 | gnomAD-2.1.1 | 4.25E-06 | None | None | None | None | I | None | 0 | 3.09E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs770098799 |
-1.51 | 0.998 | N | 0.455 | 0.335 | 0.61771375628 | gnomAD-4.0.0 | 3.30536E-06 | None | None | None | None | I | None | 0 | 4.83419E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs770098799 |
-1.942 | 1.0 | N | 0.753 | 0.576 | 0.899959819303 | gnomAD-2.1.1 | 4.25E-06 | None | None | None | None | I | None | 6.64E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs770098799 |
-1.942 | 1.0 | N | 0.753 | 0.576 | 0.899959819303 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs770098799 |
-1.942 | 1.0 | N | 0.753 | 0.576 | 0.899959819303 | gnomAD-4.0.0 | 3.96173E-06 | None | None | None | None | I | None | 5.13699E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1529 | likely_benign | 0.1368 | benign | -0.393 | Destabilizing | 0.998 | D | 0.455 | neutral | N | 0.394953024 | None | None | I |
| V/C | 0.8504 | likely_pathogenic | 0.8276 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| V/D | 0.5886 | likely_pathogenic | 0.5103 | ambiguous | -0.209 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.418427317 | None | None | I |
| V/E | 0.4322 | ambiguous | 0.3616 | ambiguous | -0.331 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| V/F | 0.3095 | likely_benign | 0.3044 | benign | -0.675 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.483633588 | None | None | I |
| V/G | 0.4015 | ambiguous | 0.3614 | ambiguous | -0.505 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.501872632 | None | None | I |
| V/H | 0.7546 | likely_pathogenic | 0.6949 | pathogenic | -0.092 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| V/I | 0.097 | likely_benign | 0.1001 | benign | -0.252 | Destabilizing | 0.308 | N | 0.231 | neutral | N | 0.40867447 | None | None | I |
| V/K | 0.4593 | ambiguous | 0.37 | ambiguous | -0.32 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| V/L | 0.3476 | ambiguous | 0.3261 | benign | -0.252 | Destabilizing | 0.873 | D | 0.487 | neutral | N | 0.471992443 | None | None | I |
| V/M | 0.1808 | likely_benign | 0.1704 | benign | -0.316 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| V/N | 0.4478 | ambiguous | 0.389 | ambiguous | -0.096 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | I |
| V/P | 0.9667 | likely_pathogenic | 0.9549 | pathogenic | -0.264 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | I |
| V/Q | 0.445 | ambiguous | 0.381 | ambiguous | -0.353 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| V/R | 0.4236 | ambiguous | 0.3486 | ambiguous | 0.187 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| V/S | 0.2911 | likely_benign | 0.2425 | benign | -0.455 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| V/T | 0.1566 | likely_benign | 0.1396 | benign | -0.476 | Destabilizing | 0.996 | D | 0.611 | neutral | None | None | None | None | I |
| V/W | 0.9486 | likely_pathogenic | 0.9332 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| V/Y | 0.7961 | likely_pathogenic | 0.7625 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
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.