Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2374 | 7345;7346;7347 | chr2:178774048;178774047;178774046 | chr2:179638775;179638774;179638773 |
| N2AB | 2374 | 7345;7346;7347 | chr2:178774048;178774047;178774046 | chr2:179638775;179638774;179638773 |
| N2A | 2374 | 7345;7346;7347 | chr2:178774048;178774047;178774046 | chr2:179638775;179638774;179638773 |
| N2B | 2328 | 7207;7208;7209 | chr2:178774048;178774047;178774046 | chr2:179638775;179638774;179638773 |
| Novex-1 | 2328 | 7207;7208;7209 | chr2:178774048;178774047;178774046 | chr2:179638775;179638774;179638773 |
| Novex-2 | 2328 | 7207;7208;7209 | chr2:178774048;178774047;178774046 | chr2:179638775;179638774;179638773 |
| Novex-3 | 2374 | 7345;7346;7347 | chr2:178774048;178774047;178774046 | chr2:179638775;179638774;179638773 |
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/H | rs774105753  |
-0.835 | 0.999 | D | 0.692 | 0.458 | 0.342631996419 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.63452E-04 |
| Q/H | rs774105753 |
-0.835 | 0.999 | D | 0.692 | 0.458 | 0.342631996419 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs774105753 |
-0.835 | 0.999 | D | 0.692 | 0.458 | 0.342631996419 | gnomAD-4.0.0 | 7.68386E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.212E-04 | None | 0 | 0 | 0 | 0 | 2.84188E-05 |
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 | 0.4946 | ambiguous | 0.514 | ambiguous | -0.393 | Destabilizing | 0.997 | D | 0.569 | neutral | None | None | None | None | N |
| Q/C | 0.9247 | likely_pathogenic | 0.9283 | pathogenic | 0.079 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| Q/D | 0.9336 | likely_pathogenic | 0.9363 | pathogenic | -0.111 | Destabilizing | 0.997 | D | 0.521 | neutral | None | None | None | None | N |
| Q/E | 0.2539 | likely_benign | 0.2623 | benign | -0.066 | Destabilizing | 0.992 | D | 0.417 | neutral | N | 0.504342643 | None | None | N |
| Q/F | 0.9468 | likely_pathogenic | 0.9499 | pathogenic | -0.214 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| Q/G | 0.743 | likely_pathogenic | 0.7622 | pathogenic | -0.687 | Destabilizing | 0.997 | D | 0.644 | neutral | None | None | None | None | N |
| Q/H | 0.6904 | likely_pathogenic | 0.6937 | pathogenic | -0.455 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | D | 0.546119036 | None | None | N |
| Q/I | 0.717 | likely_pathogenic | 0.7405 | pathogenic | 0.325 | Stabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| Q/K | 0.4155 | ambiguous | 0.4304 | ambiguous | -0.233 | Destabilizing | 0.997 | D | 0.525 | neutral | D | 0.543245789 | None | None | N |
| Q/L | 0.3972 | ambiguous | 0.4216 | ambiguous | 0.325 | Stabilizing | 0.997 | D | 0.644 | neutral | D | 0.549975656 | None | None | N |
| Q/M | 0.5837 | likely_pathogenic | 0.5957 | pathogenic | 0.485 | Stabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| Q/N | 0.7254 | likely_pathogenic | 0.726 | pathogenic | -0.593 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| Q/P | 0.7856 | likely_pathogenic | 0.7916 | pathogenic | 0.116 | Stabilizing | 0.999 | D | 0.754 | deleterious | D | 0.625969385 | None | None | N |
| Q/R | 0.4238 | ambiguous | 0.4352 | ambiguous | -0.108 | Destabilizing | 0.997 | D | 0.524 | neutral | N | 0.514966206 | None | None | N |
| Q/S | 0.5213 | ambiguous | 0.5269 | ambiguous | -0.643 | Destabilizing | 0.997 | D | 0.503 | neutral | None | None | None | None | N |
| Q/T | 0.4557 | ambiguous | 0.4736 | ambiguous | -0.422 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| Q/V | 0.5283 | ambiguous | 0.5573 | ambiguous | 0.116 | Stabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| Q/W | 0.9507 | likely_pathogenic | 0.9539 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| Q/Y | 0.9025 | likely_pathogenic | 0.9078 | pathogenic | 0.064 | Stabilizing | 0.999 | D | 0.762 | 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.