Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28733 | 86422;86423;86424 | chr2:178559935;178559934;178559933 | chr2:179424662;179424661;179424660 |
| N2AB | 27092 | 81499;81500;81501 | chr2:178559935;178559934;178559933 | chr2:179424662;179424661;179424660 |
| N2A | 26165 | 78718;78719;78720 | chr2:178559935;178559934;178559933 | chr2:179424662;179424661;179424660 |
| N2B | 19668 | 59227;59228;59229 | chr2:178559935;178559934;178559933 | chr2:179424662;179424661;179424660 |
| Novex-1 | 19793 | 59602;59603;59604 | chr2:178559935;178559934;178559933 | chr2:179424662;179424661;179424660 |
| Novex-2 | 19860 | 59803;59804;59805 | chr2:178559935;178559934;178559933 | chr2:179424662;179424661;179424660 |
| 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/G | rs776120734  |
-1.224 | 0.491 | N | 0.477 | 0.156 | 0.188950314367 | gnomAD-2.1.1 | 4.03E-05 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.01E-05 | 0 |
| A/G | rs776120734 |
-1.224 | 0.491 | N | 0.477 | 0.156 | 0.188950314367 | gnomAD-4.0.0 | 1.43687E-05 | None | None | None | None | I | None | 0 | 4.47247E-05 | None | 0 | 0 | None | 0 | 0 | 7.19564E-06 | 0 | 1.82222E-04 |
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 | 0.2736 | likely_benign | 0.2984 | benign | -0.986 | Destabilizing | 0.991 | D | 0.607 | neutral | None | None | None | None | I |
| A/D | 0.1903 | likely_benign | 0.1779 | benign | -1.127 | Destabilizing | 0.326 | N | 0.666 | neutral | N | 0.459563784 | None | None | I |
| A/E | 0.1618 | likely_benign | 0.1544 | benign | -1.238 | Destabilizing | 0.561 | D | 0.586 | neutral | None | None | None | None | I |
| A/F | 0.1715 | likely_benign | 0.1833 | benign | -1.285 | Destabilizing | 0.818 | D | 0.679 | prob.neutral | None | None | None | None | I |
| A/G | 0.1221 | likely_benign | 0.1282 | benign | -1.062 | Destabilizing | 0.491 | N | 0.477 | neutral | N | 0.465249037 | None | None | I |
| A/H | 0.3188 | likely_benign | 0.3285 | benign | -0.984 | Destabilizing | 0.972 | D | 0.673 | neutral | None | None | None | None | I |
| A/I | 0.1093 | likely_benign | 0.1186 | benign | -0.706 | Destabilizing | 0.004 | N | 0.315 | neutral | None | None | None | None | I |
| A/K | 0.3105 | likely_benign | 0.331 | benign | -1.061 | Destabilizing | 0.561 | D | 0.593 | neutral | None | None | None | None | I |
| A/L | 0.099 | likely_benign | 0.099 | benign | -0.706 | Destabilizing | 0.083 | N | 0.548 | neutral | None | None | None | None | I |
| A/M | 0.1309 | likely_benign | 0.1366 | benign | -0.516 | Destabilizing | 0.818 | D | 0.611 | neutral | None | None | None | None | I |
| A/N | 0.1535 | likely_benign | 0.1628 | benign | -0.734 | Destabilizing | 0.038 | N | 0.53 | neutral | None | None | None | None | I |
| A/P | 0.0959 | likely_benign | 0.104 | benign | -0.74 | Destabilizing | 0.003 | N | 0.396 | neutral | N | 0.41629301 | None | None | I |
| A/Q | 0.2257 | likely_benign | 0.2398 | benign | -1.059 | Destabilizing | 0.901 | D | 0.621 | neutral | None | None | None | None | I |
| A/R | 0.3153 | likely_benign | 0.3394 | benign | -0.537 | Destabilizing | 0.901 | D | 0.615 | neutral | None | None | None | None | I |
| A/S | 0.0807 | likely_benign | 0.0839 | benign | -1.028 | Destabilizing | 0.166 | N | 0.491 | neutral | N | 0.46362281 | None | None | I |
| A/T | 0.0725 | likely_benign | 0.0774 | benign | -1.065 | Destabilizing | 0.013 | N | 0.263 | neutral | N | 0.444845048 | None | None | I |
| A/V | 0.0752 | likely_benign | 0.0786 | benign | -0.74 | Destabilizing | 0.001 | N | 0.201 | neutral | N | 0.406076016 | None | None | I |
| A/W | 0.514 | ambiguous | 0.5348 | ambiguous | -1.412 | Destabilizing | 0.991 | D | 0.712 | prob.delet. | None | None | None | None | I |
| A/Y | 0.2766 | likely_benign | 0.2839 | benign | -1.089 | Destabilizing | 0.901 | D | 0.679 | prob.neutral | None | None | None | None | I |
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.