Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14360 | 43303;43304;43305 | chr2:178633195;178633194;178633193 | chr2:179497922;179497921;179497920 |
| N2AB | 12719 | 38380;38381;38382 | chr2:178633195;178633194;178633193 | chr2:179497922;179497921;179497920 |
| N2A | 11792 | 35599;35600;35601 | chr2:178633195;178633194;178633193 | chr2:179497922;179497921;179497920 |
| N2B | 5295 | 16108;16109;16110 | chr2:178633195;178633194;178633193 | chr2:179497922;179497921;179497920 |
| Novex-1 | 5420 | 16483;16484;16485 | chr2:178633195;178633194;178633193 | chr2:179497922;179497921;179497920 |
| Novex-2 | 5487 | 16684;16685;16686 | chr2:178633195;178633194;178633193 | chr2:179497922;179497921;179497920 |
| 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/D | None | -1.402 | 0.651 | N | 0.414 | 0.253 | 0.347217280506 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/D | None | -1.402 | 0.651 | N | 0.414 | 0.253 | 0.347217280506 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.31062E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| A/D | None | -1.402 | 0.651 | N | 0.414 | 0.253 | 0.347217280506 | gnomAD-4.0.0 | 4.3449E-06 | None | None | None | None | N | None | 0 | 5.02109E-05 | None | 0 | 0 | None | 0 | 0 | 2.5459E-06 | 0 | 1.60478E-05 |
| A/V | rs928035274  |
-0.554 | 0.791 | N | 0.255 | 0.169 | 0.239901079897 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29618E-04 | 0 |
| A/V | rs928035274 |
-0.554 | 0.791 | N | 0.255 | 0.169 | 0.239901079897 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| A/V | rs928035274 |
-0.554 | 0.791 | N | 0.255 | 0.169 | 0.239901079897 | gnomAD-4.0.0 | 3.1035E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.24145E-05 | None | 0 | 0 | 3.39453E-06 | 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 | 0.6647 | likely_pathogenic | 0.6648 | pathogenic | -0.78 | Destabilizing | 0.995 | D | 0.391 | neutral | None | None | None | None | N |
| A/D | 0.3297 | likely_benign | 0.2806 | benign | -0.521 | Destabilizing | 0.651 | D | 0.414 | neutral | N | 0.429928893 | None | None | N |
| A/E | 0.2824 | likely_benign | 0.2514 | benign | -0.678 | Destabilizing | 0.553 | D | 0.328 | neutral | None | None | None | None | N |
| A/F | 0.4584 | ambiguous | 0.4251 | ambiguous | -0.912 | Destabilizing | 0.982 | D | 0.446 | neutral | None | None | None | None | N |
| A/G | 0.1852 | likely_benign | 0.1635 | benign | -0.268 | Destabilizing | 0.651 | D | 0.243 | neutral | N | 0.430971131 | None | None | N |
| A/H | 0.5613 | ambiguous | 0.5381 | ambiguous | -0.333 | Destabilizing | 0.946 | D | 0.413 | neutral | None | None | None | None | N |
| A/I | 0.3265 | likely_benign | 0.293 | benign | -0.365 | Destabilizing | 0.946 | D | 0.435 | neutral | None | None | None | None | N |
| A/K | 0.4369 | ambiguous | 0.4013 | ambiguous | -0.624 | Destabilizing | 0.553 | D | 0.315 | neutral | None | None | None | None | N |
| A/L | 0.2249 | likely_benign | 0.2112 | benign | -0.365 | Destabilizing | 0.712 | D | 0.329 | neutral | None | None | None | None | N |
| A/M | 0.3591 | ambiguous | 0.3227 | benign | -0.446 | Destabilizing | 0.982 | D | 0.374 | neutral | None | None | None | None | N |
| A/N | 0.303 | likely_benign | 0.2706 | benign | -0.308 | Destabilizing | 0.946 | D | 0.422 | neutral | None | None | None | None | N |
| A/P | 0.1066 | likely_benign | 0.1137 | benign | -0.293 | Destabilizing | 0.002 | N | 0.13 | neutral | N | 0.362327097 | None | None | N |
| A/Q | 0.3602 | ambiguous | 0.3332 | benign | -0.584 | Destabilizing | 0.182 | N | 0.226 | neutral | None | None | None | None | N |
| A/R | 0.3958 | ambiguous | 0.3821 | ambiguous | -0.171 | Destabilizing | 0.008 | N | 0.237 | neutral | None | None | None | None | N |
| A/S | 0.1109 | likely_benign | 0.1035 | benign | -0.478 | Destabilizing | 0.651 | D | 0.315 | neutral | N | 0.428026352 | None | None | N |
| A/T | 0.1231 | likely_benign | 0.1129 | benign | -0.559 | Destabilizing | 0.791 | D | 0.269 | neutral | N | 0.436548249 | None | None | N |
| A/V | 0.159 | likely_benign | 0.1511 | benign | -0.293 | Destabilizing | 0.791 | D | 0.255 | neutral | N | 0.436548249 | None | None | N |
| A/W | 0.8437 | likely_pathogenic | 0.8184 | pathogenic | -1.045 | Destabilizing | 0.995 | D | 0.571 | neutral | None | None | None | None | N |
| A/Y | 0.5664 | likely_pathogenic | 0.5354 | ambiguous | -0.707 | Destabilizing | 0.982 | D | 0.454 | neutral | 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.