Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28716 | 86371;86372;86373 | chr2:178559986;178559985;178559984 | chr2:179424713;179424712;179424711 |
| N2AB | 27075 | 81448;81449;81450 | chr2:178559986;178559985;178559984 | chr2:179424713;179424712;179424711 |
| N2A | 26148 | 78667;78668;78669 | chr2:178559986;178559985;178559984 | chr2:179424713;179424712;179424711 |
| N2B | 19651 | 59176;59177;59178 | chr2:178559986;178559985;178559984 | chr2:179424713;179424712;179424711 |
| Novex-1 | 19776 | 59551;59552;59553 | chr2:178559986;178559985;178559984 | chr2:179424713;179424712;179424711 |
| Novex-2 | 19843 | 59752;59753;59754 | chr2:178559986;178559985;178559984 | chr2:179424713;179424712;179424711 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs949189486  |
None | 0.805 | N | 0.464 | 0.2 | 0.354396617058 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs949189486 |
None | 0.805 | N | 0.464 | 0.2 | 0.354396617058 | gnomAD-4.0.0 | 4.33768E-06 | None | None | None | None | N | None | 1.33276E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08555E-06 | 0 | 0 |
| T/K | None | None | 0.805 | N | 0.477 | 0.235 | 0.335414705075 | gnomAD-4.0.0 | 2.05269E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69836E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0729 | likely_benign | 0.0748 | benign | -0.75 | Destabilizing | 0.63 | D | 0.42 | neutral | N | 0.510784825 | None | None | N |
| T/C | 0.3136 | likely_benign | 0.3412 | ambiguous | -0.425 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| T/D | 0.2432 | likely_benign | 0.2601 | benign | 0.343 | Stabilizing | 0.845 | D | 0.465 | neutral | None | None | None | None | N |
| T/E | 0.1648 | likely_benign | 0.1771 | benign | 0.3 | Stabilizing | 0.073 | N | 0.269 | neutral | None | None | None | None | N |
| T/F | 0.1854 | likely_benign | 0.2088 | benign | -1.173 | Destabilizing | 0.987 | D | 0.661 | neutral | None | None | None | None | N |
| T/G | 0.2114 | likely_benign | 0.2172 | benign | -0.917 | Destabilizing | 0.975 | D | 0.519 | neutral | None | None | None | None | N |
| T/H | 0.1881 | likely_benign | 0.2033 | benign | -1.165 | Destabilizing | 0.997 | D | 0.646 | neutral | None | None | None | None | N |
| T/I | 0.0936 | likely_benign | 0.1075 | benign | -0.416 | Destabilizing | 0.805 | D | 0.464 | neutral | N | 0.472151866 | None | None | N |
| T/K | 0.1523 | likely_benign | 0.1655 | benign | -0.402 | Destabilizing | 0.805 | D | 0.477 | neutral | N | 0.445039836 | None | None | N |
| T/L | 0.0696 | likely_benign | 0.0758 | benign | -0.416 | Destabilizing | 0.845 | D | 0.419 | neutral | None | None | None | None | N |
| T/M | 0.0727 | likely_benign | 0.0778 | benign | -0.174 | Destabilizing | 0.997 | D | 0.563 | neutral | None | None | None | None | N |
| T/N | 0.0989 | likely_benign | 0.1029 | benign | -0.267 | Destabilizing | 0.975 | D | 0.471 | neutral | None | None | None | None | N |
| T/P | 0.1394 | likely_benign | 0.136 | benign | -0.498 | Destabilizing | 0.983 | D | 0.555 | neutral | N | 0.467547351 | None | None | N |
| T/Q | 0.142 | likely_benign | 0.1519 | benign | -0.444 | Destabilizing | 0.95 | D | 0.556 | neutral | None | None | None | None | N |
| T/R | 0.1433 | likely_benign | 0.1571 | benign | -0.167 | Destabilizing | 0.967 | D | 0.558 | neutral | N | 0.476997539 | None | None | N |
| T/S | 0.0934 | likely_benign | 0.097 | benign | -0.577 | Destabilizing | 0.892 | D | 0.413 | neutral | N | 0.482771505 | None | None | N |
| T/V | 0.0827 | likely_benign | 0.0906 | benign | -0.498 | Destabilizing | 0.033 | N | 0.304 | neutral | None | None | None | None | N |
| T/W | 0.5126 | ambiguous | 0.5449 | ambiguous | -1.108 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| T/Y | 0.2323 | likely_benign | 0.2454 | benign | -0.846 | Destabilizing | 0.996 | D | 0.661 | 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.