Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8242 | 24949;24950;24951 | chr2:178718382;178718381;178718380 | chr2:179583109;179583108;179583107 |
| N2AB | 7925 | 23998;23999;24000 | chr2:178718382;178718381;178718380 | chr2:179583109;179583108;179583107 |
| N2A | 6998 | 21217;21218;21219 | chr2:178718382;178718381;178718380 | chr2:179583109;179583108;179583107 |
| 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/G | rs754820566  |
-1.496 | None | N | 0.179 | 0.088 | 0.220303561663 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs754820566 |
-1.496 | None | N | 0.179 | 0.088 | 0.220303561663 | gnomAD-4.0.0 | 6.84221E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5194E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | None | None | 0.055 | N | 0.496 | 0.081 | 0.223847106136 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | None | None | 0.055 | N | 0.674 | 0.114 | 0.27479166964 | gnomAD-4.0.0 | 6.84221E-07 | None | None | None | None | N | None | 2.98864E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0887 | likely_benign | 0.0771 | benign | -0.786 | Destabilizing | None | N | 0.181 | neutral | None | None | None | None | N |
| S/C | 0.1556 | likely_benign | 0.1209 | benign | -0.366 | Destabilizing | 0.295 | N | 0.667 | neutral | N | 0.472506149 | None | None | N |
| S/D | 0.4849 | ambiguous | 0.4425 | ambiguous | -1.362 | Destabilizing | 0.072 | N | 0.502 | neutral | None | None | None | None | N |
| S/E | 0.4856 | ambiguous | 0.4451 | ambiguous | -1.118 | Destabilizing | 0.031 | N | 0.449 | neutral | None | None | None | None | N |
| S/F | 0.2393 | likely_benign | 0.2066 | benign | -0.574 | Destabilizing | 0.038 | N | 0.678 | prob.neutral | None | None | None | None | N |
| S/G | 0.1218 | likely_benign | 0.1037 | benign | -1.211 | Destabilizing | None | N | 0.179 | neutral | N | 0.507080011 | None | None | N |
| S/H | 0.2611 | likely_benign | 0.2409 | benign | -1.424 | Destabilizing | 0.356 | N | 0.677 | prob.neutral | None | None | None | None | N |
| S/I | 0.1957 | likely_benign | 0.1636 | benign | 0.318 | Stabilizing | 0.012 | N | 0.621 | neutral | N | 0.456653166 | None | None | N |
| S/K | 0.4504 | ambiguous | 0.4322 | ambiguous | 0.188 | Stabilizing | 0.031 | N | 0.45 | neutral | None | None | None | None | N |
| S/L | 0.1516 | likely_benign | 0.1304 | benign | 0.318 | Stabilizing | None | N | 0.453 | neutral | None | None | None | None | N |
| S/M | 0.2527 | likely_benign | 0.2042 | benign | 0.086 | Stabilizing | 0.214 | N | 0.675 | neutral | None | None | None | None | N |
| S/N | 0.1747 | likely_benign | 0.1558 | benign | -0.665 | Destabilizing | 0.055 | N | 0.496 | neutral | N | 0.456287999 | None | None | N |
| S/P | 0.9478 | likely_pathogenic | 0.9258 | pathogenic | -0.016 | Destabilizing | 0.072 | N | 0.659 | neutral | None | None | None | None | N |
| S/Q | 0.3889 | ambiguous | 0.3474 | ambiguous | -0.317 | Destabilizing | 0.136 | N | 0.575 | neutral | None | None | None | None | N |
| S/R | 0.3314 | likely_benign | 0.3146 | benign | -0.345 | Destabilizing | 0.055 | N | 0.674 | neutral | N | 0.503460916 | None | None | N |
| S/T | 0.0804 | likely_benign | 0.0693 | benign | -0.29 | Destabilizing | None | N | 0.171 | neutral | N | 0.403640638 | None | None | N |
| S/V | 0.2127 | likely_benign | 0.1723 | benign | -0.016 | Destabilizing | None | N | 0.422 | neutral | None | None | None | None | N |
| S/W | 0.3759 | ambiguous | 0.3239 | benign | -0.871 | Destabilizing | 0.864 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/Y | 0.1737 | likely_benign | 0.1528 | benign | -0.371 | Destabilizing | 0.001 | N | 0.464 | 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.