Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15303 | 46132;46133;46134 | chr2:178620614;178620613;178620612 | chr2:179485341;179485340;179485339 |
| N2AB | 13662 | 41209;41210;41211 | chr2:178620614;178620613;178620612 | chr2:179485341;179485340;179485339 |
| N2A | 12735 | 38428;38429;38430 | chr2:178620614;178620613;178620612 | chr2:179485341;179485340;179485339 |
| N2B | 6238 | 18937;18938;18939 | chr2:178620614;178620613;178620612 | chr2:179485341;179485340;179485339 |
| Novex-1 | 6363 | 19312;19313;19314 | chr2:178620614;178620613;178620612 | chr2:179485341;179485340;179485339 |
| Novex-2 | 6430 | 19513;19514;19515 | chr2:178620614;178620613;178620612 | chr2:179485341;179485340;179485339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | 0.997 | N | 0.452 | 0.286 | 0.485348376517 | gnomAD-4.0.0 | 1.60534E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87292E-06 | 0 | 0 |
| R/M | rs771683786  |
-0.315 | 1.0 | N | 0.694 | 0.409 | 0.465209535841 | gnomAD-2.1.1 | 5.46E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 6.05571E-04 | 0 | 0 |
| R/M | rs771683786 |
-0.315 | 1.0 | N | 0.694 | 0.409 | 0.465209535841 | gnomAD-3.1.2 | 9.87E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.41376E-03 | 0 | 0 | 0 | 0 |
| R/M | rs771683786 |
-0.315 | 1.0 | N | 0.694 | 0.409 | 0.465209535841 | gnomAD-4.0.0 | 4.90436E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.97653E-04 | 0 | 0 | 0 | 0 |
| R/S | None | None | 1.0 | N | 0.7 | 0.349 | 0.379366414296 | gnomAD-4.0.0 | 6.86754E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00891E-07 | 0 | 0 |
| R/T | rs771683786 |
-0.395 | 1.0 | N | 0.697 | 0.395 | 0.490839437361 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 3E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/T | rs771683786 |
-0.395 | 1.0 | N | 0.697 | 0.395 | 0.490839437361 | gnomAD-4.0.0 | 1.60534E-06 | None | None | None | None | N | None | 0 | 2.34335E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5377 | ambiguous | 0.4427 | ambiguous | -0.222 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| R/C | 0.222 | likely_benign | 0.1903 | benign | -0.312 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/D | 0.8065 | likely_pathogenic | 0.7347 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| R/E | 0.4469 | ambiguous | 0.3661 | ambiguous | 0.085 | Stabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| R/F | 0.671 | likely_pathogenic | 0.5809 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| R/G | 0.4712 | ambiguous | 0.3439 | ambiguous | -0.502 | Destabilizing | 1.0 | D | 0.653 | neutral | D | 0.593679776 | None | None | N |
| R/H | 0.1286 | likely_benign | 0.1154 | benign | -0.957 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| R/I | 0.3591 | ambiguous | 0.2674 | benign | 0.509 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| R/K | 0.1321 | likely_benign | 0.0977 | benign | -0.32 | Destabilizing | 0.997 | D | 0.452 | neutral | N | 0.482908036 | None | None | N |
| R/L | 0.3443 | ambiguous | 0.2803 | benign | 0.509 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| R/M | 0.382 | ambiguous | 0.2975 | benign | -0.019 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.503210427 | None | None | N |
| R/N | 0.6822 | likely_pathogenic | 0.5967 | pathogenic | -0.036 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| R/P | 0.9452 | likely_pathogenic | 0.8807 | pathogenic | 0.288 | Stabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| R/Q | 0.1345 | likely_benign | 0.1133 | benign | -0.091 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| R/S | 0.6104 | likely_pathogenic | 0.5073 | ambiguous | -0.517 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.505176181 | None | None | N |
| R/T | 0.3377 | likely_benign | 0.2648 | benign | -0.234 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.506094291 | None | None | N |
| R/V | 0.4295 | ambiguous | 0.3452 | ambiguous | 0.288 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| R/W | 0.2852 | likely_benign | 0.2293 | benign | -0.03 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.553313555 | None | None | N |
| R/Y | 0.5247 | ambiguous | 0.4517 | ambiguous | 0.318 | Stabilizing | 1.0 | D | 0.711 | 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.