Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2844 | 8755;8756;8757 | chr2:178770171;178770170;178770169 | chr2:179634898;179634897;179634896 |
| N2AB | 2844 | 8755;8756;8757 | chr2:178770171;178770170;178770169 | chr2:179634898;179634897;179634896 |
| N2A | 2844 | 8755;8756;8757 | chr2:178770171;178770170;178770169 | chr2:179634898;179634897;179634896 |
| N2B | 2798 | 8617;8618;8619 | chr2:178770171;178770170;178770169 | chr2:179634898;179634897;179634896 |
| Novex-1 | 2798 | 8617;8618;8619 | chr2:178770171;178770170;178770169 | chr2:179634898;179634897;179634896 |
| Novex-2 | 2798 | 8617;8618;8619 | chr2:178770171;178770170;178770169 | chr2:179634898;179634897;179634896 |
| Novex-3 | 2844 | 8755;8756;8757 | chr2:178770171;178770170;178770169 | chr2:179634898;179634897;179634896 |
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/L | rs2091265064  |
None | 0.961 | D | 0.69 | 0.432 | 0.680371537872 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs2091265064 |
None | 0.961 | D | 0.69 | 0.432 | 0.680371537872 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | N | None | 2.41453E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1151 | likely_benign | 0.1257 | benign | -0.399 | Destabilizing | 0.953 | D | 0.547 | neutral | N | 0.507973387 | None | None | N |
| S/C | 0.2021 | likely_benign | 0.2619 | benign | -0.308 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| S/D | 0.8434 | likely_pathogenic | 0.8408 | pathogenic | -0.068 | Destabilizing | 0.993 | D | 0.618 | neutral | None | None | None | None | N |
| S/E | 0.8527 | likely_pathogenic | 0.8561 | pathogenic | -0.132 | Destabilizing | 0.985 | D | 0.625 | neutral | None | None | None | None | N |
| S/F | 0.5131 | ambiguous | 0.5506 | ambiguous | -0.762 | Destabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/G | 0.2342 | likely_benign | 0.2529 | benign | -0.576 | Destabilizing | 0.993 | D | 0.611 | neutral | None | None | None | None | N |
| S/H | 0.6966 | likely_pathogenic | 0.7269 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| S/I | 0.4683 | ambiguous | 0.5604 | ambiguous | -0.054 | Destabilizing | 0.971 | D | 0.686 | prob.neutral | None | None | None | None | N |
| S/K | 0.9342 | likely_pathogenic | 0.9382 | pathogenic | -0.697 | Destabilizing | 0.971 | D | 0.617 | neutral | None | None | None | None | N |
| S/L | 0.2248 | likely_benign | 0.2659 | benign | -0.054 | Destabilizing | 0.961 | D | 0.69 | prob.neutral | D | 0.600020624 | None | None | N |
| S/M | 0.3667 | ambiguous | 0.4338 | ambiguous | 0.149 | Stabilizing | 0.998 | D | 0.659 | neutral | None | None | None | None | N |
| S/N | 0.4293 | ambiguous | 0.4702 | ambiguous | -0.444 | Destabilizing | 0.993 | D | 0.643 | neutral | None | None | None | None | N |
| S/P | 0.8387 | likely_pathogenic | 0.785 | pathogenic | -0.137 | Destabilizing | 0.999 | D | 0.66 | neutral | D | 0.602257448 | None | None | N |
| S/Q | 0.7702 | likely_pathogenic | 0.7871 | pathogenic | -0.657 | Destabilizing | 0.996 | D | 0.649 | neutral | None | None | None | None | N |
| S/R | 0.8803 | likely_pathogenic | 0.8899 | pathogenic | -0.479 | Destabilizing | 0.323 | N | 0.396 | neutral | None | None | None | None | N |
| S/T | 0.1262 | likely_benign | 0.1549 | benign | -0.497 | Destabilizing | 0.98 | D | 0.615 | neutral | N | 0.510483256 | None | None | N |
| S/V | 0.3879 | ambiguous | 0.4707 | ambiguous | -0.137 | Destabilizing | 0.469 | N | 0.511 | neutral | None | None | None | None | N |
| S/W | 0.6758 | likely_pathogenic | 0.673 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| S/Y | 0.4608 | ambiguous | 0.4859 | ambiguous | -0.517 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | 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.