Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9302 | 28129;28130;28131 | chr2:178711332;178711331;178711330 | chr2:179576059;179576058;179576057 |
| N2AB | 8985 | 27178;27179;27180 | chr2:178711332;178711331;178711330 | chr2:179576059;179576058;179576057 |
| N2A | 8058 | 24397;24398;24399 | chr2:178711332;178711331;178711330 | chr2:179576059;179576058;179576057 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | None | None | 0.983 | N | 0.499 | 0.449 | 0.343334270461 | gnomAD-4.0.0 | 6.87657E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02975E-07 | 0 | 0 |
| S/T | rs1160492654  |
0.151 | 0.034 | N | 0.225 | 0.084 | 0.141422826196 | gnomAD-2.1.1 | 8.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| S/T | rs1160492654 |
0.151 | 0.034 | N | 0.225 | 0.084 | 0.141422826196 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/T | rs1160492654 |
0.151 | 0.034 | N | 0.225 | 0.084 | 0.141422826196 | gnomAD-4.0.0 | 1.86752E-06 | None | None | None | None | N | None | 1.34102E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70142E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1036 | likely_benign | 0.0963 | benign | -0.618 | Destabilizing | 0.517 | D | 0.341 | neutral | D | 0.534366266 | None | None | N |
| S/C | 0.182 | likely_benign | 0.172 | benign | -0.371 | Destabilizing | 0.996 | D | 0.522 | neutral | None | None | None | None | N |
| S/D | 0.5209 | ambiguous | 0.5922 | pathogenic | 0.706 | Stabilizing | 0.875 | D | 0.411 | neutral | None | None | None | None | N |
| S/E | 0.5297 | ambiguous | 0.6141 | pathogenic | 0.644 | Stabilizing | 0.875 | D | 0.403 | neutral | None | None | None | None | N |
| S/F | 0.1679 | likely_benign | 0.1707 | benign | -1.218 | Destabilizing | 0.858 | D | 0.569 | neutral | None | None | None | None | N |
| S/G | 0.1537 | likely_benign | 0.1492 | benign | -0.742 | Destabilizing | 0.875 | D | 0.371 | neutral | None | None | None | None | N |
| S/H | 0.2671 | likely_benign | 0.307 | benign | -1.189 | Destabilizing | 0.996 | D | 0.512 | neutral | None | None | None | None | N |
| S/I | 0.1471 | likely_benign | 0.1547 | benign | -0.412 | Destabilizing | 0.858 | D | 0.459 | neutral | None | None | None | None | N |
| S/K | 0.5353 | ambiguous | 0.619 | pathogenic | -0.213 | Destabilizing | 0.875 | D | 0.405 | neutral | None | None | None | None | N |
| S/L | 0.1155 | likely_benign | 0.1118 | benign | -0.412 | Destabilizing | 0.008 | N | 0.279 | neutral | D | 0.528672445 | None | None | N |
| S/M | 0.2327 | likely_benign | 0.2372 | benign | -0.238 | Destabilizing | 0.923 | D | 0.518 | neutral | None | None | None | None | N |
| S/N | 0.1845 | likely_benign | 0.1949 | benign | -0.059 | Destabilizing | 0.875 | D | 0.437 | neutral | None | None | None | None | N |
| S/P | 0.8744 | likely_pathogenic | 0.8965 | pathogenic | -0.452 | Destabilizing | 0.983 | D | 0.499 | neutral | N | 0.514054161 | None | None | N |
| S/Q | 0.4159 | ambiguous | 0.4724 | ambiguous | -0.205 | Destabilizing | 0.987 | D | 0.475 | neutral | None | None | None | None | N |
| S/R | 0.3935 | ambiguous | 0.47 | ambiguous | -0.153 | Destabilizing | 0.961 | D | 0.499 | neutral | None | None | None | None | N |
| S/T | 0.0829 | likely_benign | 0.0783 | benign | -0.21 | Destabilizing | 0.034 | N | 0.225 | neutral | N | 0.48874862 | None | None | N |
| S/V | 0.1535 | likely_benign | 0.1494 | benign | -0.452 | Destabilizing | 0.633 | D | 0.423 | neutral | None | None | None | None | N |
| S/W | 0.4015 | ambiguous | 0.4497 | ambiguous | -1.187 | Destabilizing | 0.996 | D | 0.695 | prob.neutral | None | None | None | None | N |
| S/Y | 0.1738 | likely_benign | 0.1852 | benign | -0.895 | Destabilizing | 0.961 | D | 0.578 | 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.