Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21 | 286;287;288 | chr2:178804582;178804581;178804580 | chr2:179669309;179669308;179669307 |
| N2AB | 21 | 286;287;288 | chr2:178804582;178804581;178804580 | chr2:179669309;179669308;179669307 |
| N2A | 21 | 286;287;288 | chr2:178804582;178804581;178804580 | chr2:179669309;179669308;179669307 |
| N2B | 21 | 286;287;288 | chr2:178804582;178804581;178804580 | chr2:179669309;179669308;179669307 |
| Novex-1 | 21 | 286;287;288 | chr2:178804582;178804581;178804580 | chr2:179669309;179669308;179669307 |
| Novex-2 | 21 | 286;287;288 | chr2:178804582;178804581;178804580 | chr2:179669309;179669308;179669307 |
| Novex-3 | 21 | 286;287;288 | chr2:178804582;178804581;178804580 | chr2:179669309;179669308;179669307 |
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/T | rs1211610408  |
-0.311 | 0.966 | N | 0.425 | 0.291 | 0.533179623451 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.542(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/T | rs1211610408 |
-0.311 | 0.966 | N | 0.425 | 0.291 | 0.533179623451 | gnomAD-4.0.0 | 6.84119E-07 | None | None | None | -0.542(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15977E-05 | 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 | 0.1338 | likely_benign | 0.1313 | benign | -0.514 | Destabilizing | 0.994 | D | 0.435 | neutral | None | None | None | 0.0(TCAP) | N |
| S/C | 0.4636 | ambiguous | 0.4438 | ambiguous | -0.335 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.573038478 | None | -0.378(TCAP) | N |
| S/D | 0.5069 | ambiguous | 0.4965 | ambiguous | 0.285 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | -0.124(TCAP) | N |
| S/E | 0.5571 | ambiguous | 0.549 | ambiguous | 0.2 | Stabilizing | 1.0 | D | 0.599 | neutral | None | None | None | -0.256(TCAP) | N |
| S/F | 0.4139 | ambiguous | 0.4024 | ambiguous | -1.059 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | -0.281(TCAP) | N |
| S/G | 0.1468 | likely_benign | 0.1407 | benign | -0.636 | Destabilizing | 1.0 | D | 0.459 | neutral | N | 0.448296666 | None | 0.062(TCAP) | N |
| S/H | 0.5585 | ambiguous | 0.5468 | ambiguous | -1.169 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | 0.563(TCAP) | N |
| S/I | 0.4569 | ambiguous | 0.4447 | ambiguous | -0.319 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.573038478 | None | -0.248(TCAP) | N |
| S/K | 0.7659 | likely_pathogenic | 0.7588 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | -0.628(TCAP) | N |
| S/L | 0.2414 | likely_benign | 0.2384 | benign | -0.319 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | -0.248(TCAP) | N |
| S/M | 0.3528 | ambiguous | 0.3527 | ambiguous | -0.008 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | -0.046(TCAP) | N |
| S/N | 0.2074 | likely_benign | 0.2055 | benign | -0.178 | Destabilizing | 0.994 | D | 0.583 | neutral | N | 0.454289891 | None | -0.653(TCAP) | N |
| S/P | 0.9459 | likely_pathogenic | 0.9364 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | -0.156(TCAP) | N |
| S/Q | 0.5658 | likely_pathogenic | 0.5544 | ambiguous | -0.449 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | -0.593(TCAP) | N |
| S/R | 0.6764 | likely_pathogenic | 0.6693 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.471461706 | None | -0.666(TCAP) | N |
| S/T | 0.1437 | likely_benign | 0.1398 | benign | -0.328 | Destabilizing | 0.966 | D | 0.425 | neutral | N | 0.445715952 | None | -0.542(TCAP) | N |
| S/V | 0.4069 | ambiguous | 0.4014 | ambiguous | -0.355 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | -0.156(TCAP) | N |
| S/W | 0.6377 | likely_pathogenic | 0.6306 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | -0.34(TCAP) | N |
| S/Y | 0.3614 | ambiguous | 0.356 | ambiguous | -0.747 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | -0.079(TCAP) | 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.