Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26181 | 78766;78767;78768 | chr2:178567591;178567590;178567589 | chr2:179432318;179432317;179432316 |
| N2AB | 24540 | 73843;73844;73845 | chr2:178567591;178567590;178567589 | chr2:179432318;179432317;179432316 |
| N2A | 23613 | 71062;71063;71064 | chr2:178567591;178567590;178567589 | chr2:179432318;179432317;179432316 |
| N2B | 17116 | 51571;51572;51573 | chr2:178567591;178567590;178567589 | chr2:179432318;179432317;179432316 |
| Novex-1 | 17241 | 51946;51947;51948 | chr2:178567591;178567590;178567589 | chr2:179432318;179432317;179432316 |
| Novex-2 | 17308 | 52147;52148;52149 | chr2:178567591;178567590;178567589 | chr2:179432318;179432317;179432316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1467251247  |
None | 0.1 | N | 0.581 | 0.341 | 0.376745185316 | gnomAD-4.0.0 | 1.603E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88206E-06 | 0 | 0 |
| P/T | None | None | 0.1 | N | 0.507 | 0.141 | 0.171388866994 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0735 | likely_benign | 0.0853 | benign | -0.667 | Destabilizing | None | N | 0.239 | neutral | N | 0.486005732 | None | None | N |
| P/C | 0.5171 | ambiguous | 0.5671 | pathogenic | -0.696 | Destabilizing | 0.887 | D | 0.648 | neutral | None | None | None | None | N |
| P/D | 0.6962 | likely_pathogenic | 0.7691 | pathogenic | -0.173 | Destabilizing | 0.128 | N | 0.494 | neutral | None | None | None | None | N |
| P/E | 0.4605 | ambiguous | 0.546 | ambiguous | -0.258 | Destabilizing | 0.001 | N | 0.251 | neutral | None | None | None | None | N |
| P/F | 0.5405 | ambiguous | 0.6131 | pathogenic | -0.668 | Destabilizing | 0.676 | D | 0.658 | prob.neutral | None | None | None | None | N |
| P/G | 0.4629 | ambiguous | 0.5371 | ambiguous | -0.851 | Destabilizing | 0.057 | N | 0.465 | neutral | None | None | None | None | N |
| P/H | 0.3738 | ambiguous | 0.4484 | ambiguous | -0.293 | Destabilizing | 0.676 | D | 0.608 | neutral | None | None | None | None | N |
| P/I | 0.3553 | ambiguous | 0.4245 | ambiguous | -0.317 | Destabilizing | 0.507 | D | 0.689 | prob.delet. | None | None | None | None | N |
| P/K | 0.6045 | likely_pathogenic | 0.697 | pathogenic | -0.532 | Destabilizing | 0.128 | N | 0.503 | neutral | None | None | None | None | N |
| P/L | 0.1943 | likely_benign | 0.246 | benign | -0.317 | Destabilizing | 0.1 | N | 0.581 | neutral | N | 0.467561263 | None | None | N |
| P/M | 0.3615 | ambiguous | 0.4327 | ambiguous | -0.374 | Destabilizing | 0.887 | D | 0.609 | neutral | None | None | None | None | N |
| P/N | 0.5364 | ambiguous | 0.624 | pathogenic | -0.287 | Destabilizing | 0.227 | N | 0.601 | neutral | None | None | None | None | N |
| P/Q | 0.3173 | likely_benign | 0.3962 | ambiguous | -0.504 | Destabilizing | 0.28 | N | 0.558 | neutral | N | 0.483921226 | None | None | N |
| P/R | 0.4752 | ambiguous | 0.5689 | pathogenic | -0.009 | Destabilizing | 0.437 | N | 0.643 | neutral | N | 0.490669175 | None | None | N |
| P/S | 0.1807 | likely_benign | 0.2318 | benign | -0.747 | Destabilizing | 0.004 | N | 0.238 | neutral | N | 0.47369537 | None | None | N |
| P/T | 0.1657 | likely_benign | 0.2179 | benign | -0.724 | Destabilizing | 0.1 | N | 0.507 | neutral | N | 0.487624672 | None | None | N |
| P/V | 0.254 | likely_benign | 0.3071 | benign | -0.397 | Destabilizing | 0.128 | N | 0.537 | neutral | None | None | None | None | N |
| P/W | 0.7628 | likely_pathogenic | 0.8106 | pathogenic | -0.738 | Destabilizing | 0.96 | D | 0.681 | prob.neutral | None | None | None | None | N |
| P/Y | 0.557 | ambiguous | 0.6377 | pathogenic | -0.451 | Destabilizing | 0.864 | D | 0.659 | prob.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.