Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 108 | 547;548;549 | chr2:178800656;178800655;178800654 | chr2:179665383;179665382;179665381 |
| N2AB | 108 | 547;548;549 | chr2:178800656;178800655;178800654 | chr2:179665383;179665382;179665381 |
| N2A | 108 | 547;548;549 | chr2:178800656;178800655;178800654 | chr2:179665383;179665382;179665381 |
| N2B | 108 | 547;548;549 | chr2:178800656;178800655;178800654 | chr2:179665383;179665382;179665381 |
| Novex-1 | 108 | 547;548;549 | chr2:178800656;178800655;178800654 | chr2:179665383;179665382;179665381 |
| Novex-2 | 108 | 547;548;549 | chr2:178800656;178800655;178800654 | chr2:179665383;179665382;179665381 |
| Novex-3 | 108 | 547;548;549 | chr2:178800656;178800655;178800654 | chr2:179665383;179665382;179665381 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.987 | N | 0.354 | 0.44 | 0.344483371355 | gnomAD-4.0.0 | 1.60107E-06 | None | None | None | -0.238(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87439E-06 | 0 | 0 |
| Q/K | rs1428387902  |
None | 0.994 | N | 0.423 | 0.473 | 0.290590437066 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.902(TCAP) | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | rs1428387902 |
None | 0.994 | N | 0.423 | 0.473 | 0.290590437066 | gnomAD-4.0.0 | 6.5716E-06 | None | None | None | -0.902(TCAP) | N | None | 0 | 0 | None | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | None | None | 0.991 | N | 0.471 | 0.533 | 0.272205846399 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.634(TCAP) | N | None | 6.33473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4954 | ambiguous | 0.5048 | ambiguous | -0.619 | Destabilizing | 0.998 | D | 0.484 | neutral | None | None | None | -0.036(TCAP) | N |
| Q/C | 0.9599 | likely_pathogenic | 0.9643 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | -0.6(TCAP) | N |
| Q/D | 0.7214 | likely_pathogenic | 0.7568 | pathogenic | -0.556 | Destabilizing | 0.994 | D | 0.49 | neutral | None | None | None | -0.105(TCAP) | N |
| Q/E | 0.1132 | likely_benign | 0.1277 | benign | -0.434 | Destabilizing | 0.987 | D | 0.354 | neutral | N | 0.486784858 | None | -0.238(TCAP) | N |
| Q/F | 0.9495 | likely_pathogenic | 0.9552 | pathogenic | -0.159 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | -0.533(TCAP) | N |
| Q/G | 0.5657 | likely_pathogenic | 0.5753 | pathogenic | -0.998 | Destabilizing | 0.998 | D | 0.569 | neutral | None | None | None | -0.02(TCAP) | N |
| Q/H | 0.6395 | likely_pathogenic | 0.6795 | pathogenic | -0.671 | Destabilizing | 0.998 | D | 0.624 | neutral | N | 0.521139136 | None | 0.147(TCAP) | N |
| Q/I | 0.8064 | likely_pathogenic | 0.8198 | pathogenic | 0.358 | Stabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | -0.143(TCAP) | N |
| Q/K | 0.2592 | likely_benign | 0.3155 | benign | -0.424 | Destabilizing | 0.994 | D | 0.423 | neutral | N | 0.443307 | None | -0.902(TCAP) | N |
| Q/L | 0.3927 | ambiguous | 0.4125 | ambiguous | 0.358 | Stabilizing | 0.994 | D | 0.569 | neutral | N | 0.516460288 | None | -0.143(TCAP) | N |
| Q/M | 0.6928 | likely_pathogenic | 0.6918 | pathogenic | 0.624 | Stabilizing | 0.999 | D | 0.624 | neutral | None | None | None | 0.401(TCAP) | N |
| Q/N | 0.6412 | likely_pathogenic | 0.6578 | pathogenic | -1.015 | Destabilizing | 0.998 | D | 0.568 | neutral | None | None | None | -0.503(TCAP) | N |
| Q/P | 0.802 | likely_pathogenic | 0.8173 | pathogenic | 0.063 | Stabilizing | 0.998 | D | 0.705 | prob.neutral | D | 0.573133033 | None | -0.097(TCAP) | N |
| Q/R | 0.2929 | likely_benign | 0.3527 | ambiguous | -0.337 | Destabilizing | 0.991 | D | 0.471 | neutral | N | 0.44402123 | None | -0.634(TCAP) | N |
| Q/S | 0.4865 | ambiguous | 0.4777 | ambiguous | -1.125 | Destabilizing | 0.998 | D | 0.448 | neutral | None | None | None | -0.63(TCAP) | N |
| Q/T | 0.4545 | ambiguous | 0.4674 | ambiguous | -0.809 | Destabilizing | 0.987 | D | 0.615 | neutral | None | None | None | -0.697(TCAP) | N |
| Q/V | 0.6106 | likely_pathogenic | 0.6227 | pathogenic | 0.063 | Stabilizing | 0.996 | D | 0.632 | neutral | None | None | None | -0.097(TCAP) | N |
| Q/W | 0.9297 | likely_pathogenic | 0.9433 | pathogenic | -0.053 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | -0.839(TCAP) | N |
| Q/Y | 0.8725 | likely_pathogenic | 0.8907 | pathogenic | 0.169 | Stabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | -0.442(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.