Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1720 | 5383;5384;5385 | chr2:178776706;178776705;178776704 | chr2:179641433;179641432;179641431 |
| N2AB | 1720 | 5383;5384;5385 | chr2:178776706;178776705;178776704 | chr2:179641433;179641432;179641431 |
| N2A | 1720 | 5383;5384;5385 | chr2:178776706;178776705;178776704 | chr2:179641433;179641432;179641431 |
| N2B | 1674 | 5245;5246;5247 | chr2:178776706;178776705;178776704 | chr2:179641433;179641432;179641431 |
| Novex-1 | 1674 | 5245;5246;5247 | chr2:178776706;178776705;178776704 | chr2:179641433;179641432;179641431 |
| Novex-2 | 1674 | 5245;5246;5247 | chr2:178776706;178776705;178776704 | chr2:179641433;179641432;179641431 |
| Novex-3 | 1720 | 5383;5384;5385 | chr2:178776706;178776705;178776704 | chr2:179641433;179641432;179641431 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1183072143  |
-1.113 | 0.885 | D | 0.611 | 0.546 | 0.395595088485 | gnomAD-2.1.1 | 7.09E-06 | None | None | None | None | N | None | 8.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1183072143 |
-1.113 | 0.885 | D | 0.611 | 0.546 | 0.395595088485 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1183072143 |
-1.113 | 0.885 | D | 0.611 | 0.546 | 0.395595088485 | gnomAD-4.0.0 | 3.09791E-06 | None | None | None | None | N | None | 6.67236E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6299 | likely_pathogenic | 0.5581 | ambiguous | -0.601 | Destabilizing | 0.999 | D | 0.668 | neutral | None | None | None | None | N |
| A/D | 0.9825 | likely_pathogenic | 0.9831 | pathogenic | -1.417 | Destabilizing | 0.982 | D | 0.745 | deleterious | D | 0.776593076 | None | None | N |
| A/E | 0.9633 | likely_pathogenic | 0.9668 | pathogenic | -1.212 | Destabilizing | 0.986 | D | 0.764 | deleterious | None | None | None | None | N |
| A/F | 0.911 | likely_pathogenic | 0.9154 | pathogenic | -0.468 | Destabilizing | 0.993 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/G | 0.3917 | ambiguous | 0.3451 | ambiguous | -1.178 | Destabilizing | 0.885 | D | 0.569 | neutral | D | 0.689858494 | None | None | N |
| A/H | 0.9757 | likely_pathogenic | 0.9751 | pathogenic | -1.622 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| A/I | 0.5837 | likely_pathogenic | 0.5794 | pathogenic | 0.627 | Stabilizing | 0.91 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/K | 0.9902 | likely_pathogenic | 0.9907 | pathogenic | -0.72 | Destabilizing | 0.986 | D | 0.76 | deleterious | None | None | None | None | N |
| A/L | 0.6405 | likely_pathogenic | 0.6523 | pathogenic | 0.627 | Stabilizing | 0.91 | D | 0.622 | neutral | None | None | None | None | N |
| A/M | 0.7276 | likely_pathogenic | 0.7141 | pathogenic | 0.402 | Stabilizing | 0.998 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/N | 0.9264 | likely_pathogenic | 0.9217 | pathogenic | -0.962 | Destabilizing | 0.986 | D | 0.741 | deleterious | None | None | None | None | N |
| A/P | 0.963 | likely_pathogenic | 0.9684 | pathogenic | 0.236 | Stabilizing | 0.991 | D | 0.767 | deleterious | D | 0.776526588 | None | None | N |
| A/Q | 0.9451 | likely_pathogenic | 0.9462 | pathogenic | -0.728 | Destabilizing | 0.993 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/R | 0.9771 | likely_pathogenic | 0.9798 | pathogenic | -0.973 | Destabilizing | 0.986 | D | 0.741 | deleterious | None | None | None | None | N |
| A/S | 0.1498 | likely_benign | 0.1389 | benign | -1.446 | Destabilizing | 0.322 | N | 0.34 | neutral | D | 0.717326577 | None | None | N |
| A/T | 0.219 | likely_benign | 0.2 | benign | -1.085 | Destabilizing | 0.885 | D | 0.611 | neutral | D | 0.678141511 | None | None | N |
| A/V | 0.2477 | likely_benign | 0.2353 | benign | 0.236 | Stabilizing | 0.17 | N | 0.285 | neutral | N | 0.486274446 | None | None | N |
| A/W | 0.9942 | likely_pathogenic | 0.9943 | pathogenic | -1.194 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| A/Y | 0.9714 | likely_pathogenic | 0.9733 | pathogenic | -0.544 | Destabilizing | 0.998 | D | 0.737 | 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.