Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21882 | 65869;65870;65871 | chr2:178583159;178583158;178583157 | chr2:179447886;179447885;179447884 |
| N2AB | 20241 | 60946;60947;60948 | chr2:178583159;178583158;178583157 | chr2:179447886;179447885;179447884 |
| N2A | 19314 | 58165;58166;58167 | chr2:178583159;178583158;178583157 | chr2:179447886;179447885;179447884 |
| N2B | 12817 | 38674;38675;38676 | chr2:178583159;178583158;178583157 | chr2:179447886;179447885;179447884 |
| Novex-1 | 12942 | 39049;39050;39051 | chr2:178583159;178583158;178583157 | chr2:179447886;179447885;179447884 |
| Novex-2 | 13009 | 39250;39251;39252 | chr2:178583159;178583158;178583157 | chr2:179447886;179447885;179447884 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs1440309289  |
-1.506 | 0.285 | N | 0.427 | 0.241 | 0.463843524616 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| C/G | rs1440309289 |
-1.506 | 0.285 | N | 0.427 | 0.241 | 0.463843524616 | gnomAD-4.0.0 | 1.59444E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79033E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.366 | ambiguous | 0.3049 | benign | -1.423 | Destabilizing | 0.103 | N | 0.347 | neutral | None | None | None | None | N |
| C/D | 0.7261 | likely_pathogenic | 0.6171 | pathogenic | -0.135 | Destabilizing | 0.209 | N | 0.451 | neutral | None | None | None | None | N |
| C/E | 0.7042 | likely_pathogenic | 0.5956 | pathogenic | -0.103 | Destabilizing | 0.002 | N | 0.446 | neutral | None | None | None | None | N |
| C/F | 0.1987 | likely_benign | 0.1531 | benign | -0.994 | Destabilizing | 0.003 | N | 0.358 | neutral | N | 0.41405242 | None | None | N |
| C/G | 0.2688 | likely_benign | 0.2141 | benign | -1.665 | Destabilizing | 0.285 | N | 0.427 | neutral | N | 0.489184897 | None | None | N |
| C/H | 0.2652 | likely_benign | 0.1903 | benign | -1.576 | Destabilizing | 0.901 | D | 0.479 | neutral | None | None | None | None | N |
| C/I | 0.358 | ambiguous | 0.2839 | benign | -0.832 | Destabilizing | 0.209 | N | 0.437 | neutral | None | None | None | None | N |
| C/K | 0.4325 | ambiguous | 0.3454 | ambiguous | -0.754 | Destabilizing | 0.209 | N | 0.433 | neutral | None | None | None | None | N |
| C/L | 0.3528 | ambiguous | 0.2817 | benign | -0.832 | Destabilizing | 0.103 | N | 0.361 | neutral | None | None | None | None | N |
| C/M | 0.5082 | ambiguous | 0.4473 | ambiguous | -0.015 | Destabilizing | 0.901 | D | 0.456 | neutral | None | None | None | None | N |
| C/N | 0.4338 | ambiguous | 0.34 | ambiguous | -0.513 | Destabilizing | 0.561 | D | 0.499 | neutral | None | None | None | None | N |
| C/P | 0.9385 | likely_pathogenic | 0.9239 | pathogenic | -1.004 | Destabilizing | 0.722 | D | 0.523 | neutral | None | None | None | None | N |
| C/Q | 0.3294 | likely_benign | 0.2542 | benign | -0.581 | Destabilizing | 0.39 | N | 0.502 | neutral | None | None | None | None | N |
| C/R | 0.1634 | likely_benign | 0.1245 | benign | -0.398 | Destabilizing | 0.003 | N | 0.425 | neutral | N | 0.3592365 | None | None | N |
| C/S | 0.273 | likely_benign | 0.2099 | benign | -1.062 | Destabilizing | 0.016 | N | 0.254 | neutral | N | 0.360564652 | None | None | N |
| C/T | 0.3175 | likely_benign | 0.2623 | benign | -0.873 | Destabilizing | 0.209 | N | 0.413 | neutral | None | None | None | None | N |
| C/V | 0.2901 | likely_benign | 0.249 | benign | -1.004 | Destabilizing | 0.007 | N | 0.247 | neutral | None | None | None | None | N |
| C/W | 0.5035 | ambiguous | 0.3879 | ambiguous | -0.908 | Destabilizing | 0.987 | D | 0.483 | neutral | N | 0.489184897 | None | None | N |
| C/Y | 0.2708 | likely_benign | 0.189 | benign | -0.901 | Destabilizing | 0.326 | N | 0.523 | neutral | N | 0.419708956 | 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.