Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14259 | 43000;43001;43002 | chr2:178633584;178633583;178633582 | chr2:179498311;179498310;179498309 |
| N2AB | 12618 | 38077;38078;38079 | chr2:178633584;178633583;178633582 | chr2:179498311;179498310;179498309 |
| N2A | 11691 | 35296;35297;35298 | chr2:178633584;178633583;178633582 | chr2:179498311;179498310;179498309 |
| N2B | 5194 | 15805;15806;15807 | chr2:178633584;178633583;178633582 | chr2:179498311;179498310;179498309 |
| Novex-1 | 5319 | 16180;16181;16182 | chr2:178633584;178633583;178633582 | chr2:179498311;179498310;179498309 |
| Novex-2 | 5386 | 16381;16382;16383 | chr2:178633584;178633583;178633582 | chr2:179498311;179498310;179498309 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs1466149919  |
-0.345 | 0.999 | N | 0.633 | 0.375 | 0.366659145958 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/S | rs1466149919 |
-0.345 | 0.999 | N | 0.633 | 0.375 | 0.366659145958 | gnomAD-4.0.0 | 1.59234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85969E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0752 | likely_benign | 0.0818 | benign | -0.402 | Destabilizing | 0.998 | D | 0.599 | neutral | D | 0.580613419 | None | None | N |
| P/C | 0.6343 | likely_pathogenic | 0.6959 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/D | 0.2836 | likely_benign | 0.3286 | benign | -0.357 | Destabilizing | 0.504 | D | 0.295 | neutral | None | None | None | None | N |
| P/E | 0.235 | likely_benign | 0.2743 | benign | -0.46 | Destabilizing | 0.994 | D | 0.585 | neutral | None | None | None | None | N |
| P/F | 0.5488 | ambiguous | 0.5664 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/G | 0.3368 | likely_benign | 0.3961 | ambiguous | -0.506 | Destabilizing | 0.998 | D | 0.605 | neutral | None | None | None | None | N |
| P/H | 0.2222 | likely_benign | 0.2704 | benign | -0.028 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| P/I | 0.3462 | ambiguous | 0.3502 | ambiguous | -0.269 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/K | 0.2918 | likely_benign | 0.3644 | ambiguous | -0.465 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| P/L | 0.1392 | likely_benign | 0.1419 | benign | -0.269 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.582296109 | None | None | N |
| P/M | 0.3504 | ambiguous | 0.374 | ambiguous | -0.531 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| P/N | 0.278 | likely_benign | 0.323 | benign | -0.309 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| P/Q | 0.171 | likely_benign | 0.2067 | benign | -0.508 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.502029597 | None | None | N |
| P/R | 0.2313 | likely_benign | 0.2892 | benign | 0.014 | Stabilizing | 0.999 | D | 0.747 | deleterious | D | 0.538300296 | None | None | N |
| P/S | 0.1189 | likely_benign | 0.1319 | benign | -0.63 | Destabilizing | 0.999 | D | 0.633 | neutral | N | 0.500849189 | None | None | N |
| P/T | 0.1058 | likely_benign | 0.1147 | benign | -0.633 | Destabilizing | 0.999 | D | 0.655 | neutral | N | 0.502312152 | None | None | N |
| P/V | 0.2418 | likely_benign | 0.2621 | benign | -0.282 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| P/W | 0.7592 | likely_pathogenic | 0.7961 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| P/Y | 0.5234 | ambiguous | 0.5681 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.744 | deleterious | 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.