Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5628 | 17107;17108;17109 | chr2:178732087;178732086;178732085 | chr2:179596814;179596813;179596812 |
| N2AB | 5311 | 16156;16157;16158 | chr2:178732087;178732086;178732085 | chr2:179596814;179596813;179596812 |
| N2A | 4384 | 13375;13376;13377 | chr2:178732087;178732086;178732085 | chr2:179596814;179596813;179596812 |
| 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 | None | None | None | N | 0.165 | 0.248 | 0.256283259241 | gnomAD-4.0.0 | 1.59846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44047E-05 | 0 |
| S/N | None | None | 0.055 | N | 0.433 | 0.211 | 0.258779203287 | gnomAD-4.0.0 | 3.19927E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.75189E-06 | 0 | 0 |
| S/R | None | None | None | N | 0.329 | 0.278 | 0.285698343383 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0936 | likely_benign | 0.0991 | benign | -0.613 | Destabilizing | 0.007 | N | 0.273 | neutral | None | None | None | None | N |
| S/C | 0.1229 | likely_benign | 0.1323 | benign | -0.471 | Destabilizing | None | N | 0.321 | neutral | D | 0.543327365 | None | None | N |
| S/D | 0.3732 | ambiguous | 0.4138 | ambiguous | -0.801 | Destabilizing | 0.072 | N | 0.44 | neutral | None | None | None | None | N |
| S/E | 0.4849 | ambiguous | 0.5303 | ambiguous | -0.791 | Destabilizing | 0.072 | N | 0.418 | neutral | None | None | None | None | N |
| S/F | 0.2393 | likely_benign | 0.2465 | benign | -0.759 | Destabilizing | 0.356 | N | 0.644 | neutral | None | None | None | None | N |
| S/G | 0.0806 | likely_benign | 0.0909 | benign | -0.878 | Destabilizing | None | N | 0.165 | neutral | N | 0.521322316 | None | None | N |
| S/H | 0.2836 | likely_benign | 0.2874 | benign | -1.447 | Destabilizing | 0.001 | N | 0.315 | neutral | None | None | None | None | N |
| S/I | 0.1856 | likely_benign | 0.202 | benign | -0.01 | Destabilizing | 0.093 | N | 0.668 | neutral | N | 0.51047299 | None | None | N |
| S/K | 0.5458 | ambiguous | 0.5715 | pathogenic | -0.81 | Destabilizing | 0.038 | N | 0.425 | neutral | None | None | None | None | N |
| S/L | 0.1326 | likely_benign | 0.1441 | benign | -0.01 | Destabilizing | 0.038 | N | 0.58 | neutral | None | None | None | None | N |
| S/M | 0.2237 | likely_benign | 0.2686 | benign | 0.335 | Stabilizing | 0.356 | N | 0.577 | neutral | None | None | None | None | N |
| S/N | 0.1282 | likely_benign | 0.1579 | benign | -0.853 | Destabilizing | 0.055 | N | 0.433 | neutral | N | 0.494317291 | None | None | N |
| S/P | 0.3563 | ambiguous | 0.4773 | ambiguous | -0.176 | Destabilizing | 0.356 | N | 0.599 | neutral | None | None | None | None | N |
| S/Q | 0.4277 | ambiguous | 0.4419 | ambiguous | -1.012 | Destabilizing | 0.214 | N | 0.527 | neutral | None | None | None | None | N |
| S/R | 0.4401 | ambiguous | 0.4401 | ambiguous | -0.716 | Destabilizing | None | N | 0.329 | neutral | N | 0.496443659 | None | None | N |
| S/T | 0.0808 | likely_benign | 0.0968 | benign | -0.764 | Destabilizing | None | N | 0.183 | neutral | D | 0.531037959 | None | None | N |
| S/V | 0.1944 | likely_benign | 0.2168 | benign | -0.176 | Destabilizing | 0.038 | N | 0.6 | neutral | None | None | None | None | N |
| S/W | 0.394 | ambiguous | 0.4188 | ambiguous | -0.8 | Destabilizing | 0.864 | D | 0.657 | neutral | None | None | None | None | N |
| S/Y | 0.2169 | likely_benign | 0.2181 | benign | -0.511 | Destabilizing | 0.214 | N | 0.653 | 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.