Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30479 | 91660;91661;91662 | chr2:178551096;178551095;178551094 | chr2:179415823;179415822;179415821 |
| N2AB | 28838 | 86737;86738;86739 | chr2:178551096;178551095;178551094 | chr2:179415823;179415822;179415821 |
| N2A | 27911 | 83956;83957;83958 | chr2:178551096;178551095;178551094 | chr2:179415823;179415822;179415821 |
| N2B | 21414 | 64465;64466;64467 | chr2:178551096;178551095;178551094 | chr2:179415823;179415822;179415821 |
| Novex-1 | 21539 | 64840;64841;64842 | chr2:178551096;178551095;178551094 | chr2:179415823;179415822;179415821 |
| Novex-2 | 21606 | 65041;65042;65043 | chr2:178551096;178551095;178551094 | chr2:179415823;179415822;179415821 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs1248613242  |
-1.773 | 0.828 | N | 0.463 | 0.237 | 0.569599524359 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| C/S | rs1248613242 |
-1.773 | 0.828 | N | 0.463 | 0.237 | 0.569599524359 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/S | rs1248613242 |
-1.773 | 0.828 | N | 0.463 | 0.237 | 0.569599524359 | gnomAD-4.0.0 | 1.2397E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69544E-06 | 0 | 0 |
| C/Y | None | None | 0.998 | N | 0.553 | 0.366 | 0.71479990609 | gnomAD-4.0.0 | 2.73751E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59836E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5569 | ambiguous | 0.573 | pathogenic | -2.026 | Highly Destabilizing | 0.927 | D | 0.386 | neutral | None | None | None | None | N |
| C/D | 0.826 | likely_pathogenic | 0.8457 | pathogenic | -1.167 | Destabilizing | 0.995 | D | 0.551 | neutral | None | None | None | None | N |
| C/E | 0.8017 | likely_pathogenic | 0.8245 | pathogenic | -0.993 | Destabilizing | 0.995 | D | 0.555 | neutral | None | None | None | None | N |
| C/F | 0.4929 | ambiguous | 0.481 | ambiguous | -1.264 | Destabilizing | 0.998 | D | 0.545 | neutral | N | 0.457523557 | None | None | N |
| C/G | 0.2772 | likely_benign | 0.292 | benign | -2.362 | Highly Destabilizing | 0.979 | D | 0.486 | neutral | N | 0.464462115 | None | None | N |
| C/H | 0.6868 | likely_pathogenic | 0.6851 | pathogenic | -2.139 | Highly Destabilizing | 1.0 | D | 0.585 | neutral | None | None | None | None | N |
| C/I | 0.7433 | likely_pathogenic | 0.7574 | pathogenic | -1.12 | Destabilizing | 0.969 | D | 0.44 | neutral | None | None | None | None | N |
| C/K | 0.7862 | likely_pathogenic | 0.7953 | pathogenic | -1.427 | Destabilizing | 0.995 | D | 0.549 | neutral | None | None | None | None | N |
| C/L | 0.4694 | ambiguous | 0.4772 | ambiguous | -1.12 | Destabilizing | 0.927 | D | 0.46 | neutral | None | None | None | None | N |
| C/M | 0.625 | likely_pathogenic | 0.6208 | pathogenic | 0.151 | Stabilizing | 0.999 | D | 0.509 | neutral | None | None | None | None | N |
| C/N | 0.3858 | ambiguous | 0.3862 | ambiguous | -1.751 | Destabilizing | 0.995 | D | 0.555 | neutral | None | None | None | None | N |
| C/P | 0.7523 | likely_pathogenic | 0.7961 | pathogenic | -1.4 | Destabilizing | 0.999 | D | 0.558 | neutral | None | None | None | None | N |
| C/Q | 0.6297 | likely_pathogenic | 0.6337 | pathogenic | -1.492 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| C/R | 0.515 | ambiguous | 0.5342 | ambiguous | -1.33 | Destabilizing | 0.994 | D | 0.565 | neutral | N | 0.448479999 | None | None | N |
| C/S | 0.4211 | ambiguous | 0.4355 | ambiguous | -2.235 | Highly Destabilizing | 0.828 | D | 0.463 | neutral | N | 0.471991577 | None | None | N |
| C/T | 0.3857 | ambiguous | 0.3784 | ambiguous | -1.881 | Destabilizing | 0.148 | N | 0.313 | neutral | None | None | None | None | N |
| C/V | 0.6109 | likely_pathogenic | 0.6213 | pathogenic | -1.4 | Destabilizing | 0.927 | D | 0.451 | neutral | None | None | None | None | N |
| C/W | 0.8091 | likely_pathogenic | 0.8139 | pathogenic | -1.366 | Destabilizing | 0.999 | D | 0.596 | neutral | N | 0.476578889 | None | None | N |
| C/Y | 0.4868 | ambiguous | 0.4848 | ambiguous | -1.35 | Destabilizing | 0.998 | D | 0.553 | neutral | N | 0.498908819 | 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.