Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31058 | 93397;93398;93399 | chr2:178548454;178548453;178548452 | chr2:179413181;179413180;179413179 |
| N2AB | 29417 | 88474;88475;88476 | chr2:178548454;178548453;178548452 | chr2:179413181;179413180;179413179 |
| N2A | 28490 | 85693;85694;85695 | chr2:178548454;178548453;178548452 | chr2:179413181;179413180;179413179 |
| N2B | 21993 | 66202;66203;66204 | chr2:178548454;178548453;178548452 | chr2:179413181;179413180;179413179 |
| Novex-1 | 22118 | 66577;66578;66579 | chr2:178548454;178548453;178548452 | chr2:179413181;179413180;179413179 |
| Novex-2 | 22185 | 66778;66779;66780 | chr2:178548454;178548453;178548452 | chr2:179413181;179413180;179413179 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1232455758  |
None | 1.0 | N | 0.61 | 0.243 | 0.218845423259 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs1232455758 |
None | 1.0 | N | 0.61 | 0.243 | 0.218845423259 | gnomAD-4.0.0 | 6.84185E-07 | None | None | None | None | N | None | 2.98775E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs1232455758 |
-0.976 | 1.0 | N | 0.693 | 0.252 | 0.263140351381 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1232455758 |
-0.976 | 1.0 | N | 0.693 | 0.252 | 0.263140351381 | gnomAD-4.0.0 | 6.15767E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 7.19559E-06 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.661 | 0.255 | 0.446510307777 | gnomAD-4.0.0 | 1.5911E-06 | None | None | None | None | N | None | 0 | 2.28634E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8156 | likely_pathogenic | 0.7852 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| A/D | 0.8644 | likely_pathogenic | 0.8192 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| A/E | 0.8038 | likely_pathogenic | 0.7361 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.493948504 | None | None | N |
| A/F | 0.7399 | likely_pathogenic | 0.7087 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| A/G | 0.2406 | likely_benign | 0.227 | benign | -1.074 | Destabilizing | 1.0 | D | 0.593 | neutral | N | 0.514267848 | None | None | N |
| A/H | 0.9094 | likely_pathogenic | 0.8794 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| A/I | 0.5188 | ambiguous | 0.4805 | ambiguous | -0.219 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/K | 0.9389 | likely_pathogenic | 0.895 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/L | 0.4987 | ambiguous | 0.4557 | ambiguous | -0.219 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| A/M | 0.4872 | ambiguous | 0.4467 | ambiguous | -0.171 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| A/N | 0.6865 | likely_pathogenic | 0.6455 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/P | 0.7173 | likely_pathogenic | 0.6766 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.514094489 | None | None | N |
| A/Q | 0.7963 | likely_pathogenic | 0.7446 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| A/R | 0.9205 | likely_pathogenic | 0.8711 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/S | 0.1527 | likely_benign | 0.1482 | benign | -1.178 | Destabilizing | 1.0 | D | 0.61 | neutral | N | 0.432516043 | None | None | N |
| A/T | 0.2291 | likely_benign | 0.2053 | benign | -1.093 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.463145594 | None | None | N |
| A/V | 0.2665 | likely_benign | 0.2402 | benign | -0.373 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.501317193 | None | None | N |
| A/W | 0.9691 | likely_pathogenic | 0.9557 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| A/Y | 0.861 | likely_pathogenic | 0.8303 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.713 | 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.