Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6955 | 21088;21089;21090 | chr2:178724512;178724511;178724510 | chr2:179589239;179589238;179589237 |
| N2AB | 6638 | 20137;20138;20139 | chr2:178724512;178724511;178724510 | chr2:179589239;179589238;179589237 |
| N2A | 5711 | 17356;17357;17358 | chr2:178724512;178724511;178724510 | chr2:179589239;179589238;179589237 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs2079001383  |
None | 0.213 | N | 0.564 | 0.118 | 0.474798811001 | gnomAD-4.0.0 | 6.89834E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06275E-07 | 0 | 0 |
| G/V | rs1030144785 |
None | 0.351 | N | 0.637 | 0.235 | None | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.70242E-04 |
| G/V | rs1030144785 |
None | 0.351 | N | 0.637 | 0.235 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs1030144785 |
None | 0.351 | N | 0.637 | 0.235 | None | gnomAD-4.0.0 | 1.06141E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.28051E-05 | 0 | 3.23353E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0896 | likely_benign | 0.0802 | benign | -0.23 | Destabilizing | 0.101 | N | 0.331 | neutral | N | 0.495789235 | None | None | I |
| G/C | 0.2188 | likely_benign | 0.196 | benign | -0.868 | Destabilizing | 0.983 | D | 0.595 | neutral | None | None | None | None | I |
| G/D | 0.1463 | likely_benign | 0.1216 | benign | -0.682 | Destabilizing | 0.001 | N | 0.17 | neutral | None | None | None | None | I |
| G/E | 0.0956 | likely_benign | 0.088 | benign | -0.844 | Destabilizing | 0.001 | N | 0.219 | neutral | N | 0.464754252 | None | None | I |
| G/F | 0.3469 | ambiguous | 0.3034 | benign | -0.97 | Destabilizing | 0.836 | D | 0.648 | neutral | None | None | None | None | I |
| G/H | 0.2653 | likely_benign | 0.2318 | benign | -0.512 | Destabilizing | 0.836 | D | 0.598 | neutral | None | None | None | None | I |
| G/I | 0.1328 | likely_benign | 0.1252 | benign | -0.383 | Destabilizing | 0.836 | D | 0.651 | neutral | None | None | None | None | I |
| G/K | 0.1903 | likely_benign | 0.1776 | benign | -0.863 | Destabilizing | 0.004 | N | 0.223 | neutral | None | None | None | None | I |
| G/L | 0.1941 | likely_benign | 0.1787 | benign | -0.383 | Destabilizing | 0.418 | N | 0.609 | neutral | None | None | None | None | I |
| G/M | 0.2732 | likely_benign | 0.244 | benign | -0.498 | Destabilizing | 0.983 | D | 0.603 | neutral | None | None | None | None | I |
| G/N | 0.2112 | likely_benign | 0.1757 | benign | -0.482 | Destabilizing | 0.264 | N | 0.346 | neutral | None | None | None | None | I |
| G/P | 0.4977 | ambiguous | 0.4231 | ambiguous | -0.3 | Destabilizing | 0.593 | D | 0.589 | neutral | None | None | None | None | I |
| G/Q | 0.1675 | likely_benign | 0.1535 | benign | -0.766 | Destabilizing | 0.264 | N | 0.606 | neutral | None | None | None | None | I |
| G/R | 0.1524 | likely_benign | 0.1469 | benign | -0.419 | Destabilizing | 0.213 | N | 0.564 | neutral | N | 0.446360492 | None | None | I |
| G/S | 0.0836 | likely_benign | 0.0737 | benign | -0.589 | Destabilizing | 0.01 | N | 0.108 | neutral | None | None | None | None | I |
| G/T | 0.1074 | likely_benign | 0.0951 | benign | -0.686 | Destabilizing | 0.264 | N | 0.527 | neutral | None | None | None | None | I |
| G/V | 0.0936 | likely_benign | 0.0885 | benign | -0.3 | Destabilizing | 0.351 | N | 0.637 | neutral | N | 0.494962516 | None | None | I |
| G/W | 0.2956 | likely_benign | 0.2672 | benign | -1.137 | Destabilizing | 0.983 | D | 0.593 | neutral | None | None | None | None | I |
| G/Y | 0.3004 | likely_benign | 0.2566 | benign | -0.787 | Destabilizing | 0.94 | D | 0.649 | 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.