Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16800 | 50623;50624;50625 | chr2:178611911;178611910;178611909 | chr2:179476638;179476637;179476636 |
| N2AB | 15159 | 45700;45701;45702 | chr2:178611911;178611910;178611909 | chr2:179476638;179476637;179476636 |
| N2A | 14232 | 42919;42920;42921 | chr2:178611911;178611910;178611909 | chr2:179476638;179476637;179476636 |
| N2B | 7735 | 23428;23429;23430 | chr2:178611911;178611910;178611909 | chr2:179476638;179476637;179476636 |
| Novex-1 | 7860 | 23803;23804;23805 | chr2:178611911;178611910;178611909 | chr2:179476638;179476637;179476636 |
| Novex-2 | 7927 | 24004;24005;24006 | chr2:178611911;178611910;178611909 | chr2:179476638;179476637;179476636 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs794729239  |
None | 1.0 | N | 0.752 | 0.272 | 0.230578612272 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs794729239 |
None | 1.0 | N | 0.752 | 0.272 | 0.230578612272 | gnomAD-4.0.0 | 4.34089E-06 | None | None | None | None | N | None | 5.34374E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4801E-07 | 0 | 3.20523E-05 |
| K/T | rs959185764 |
-0.054 | 1.0 | N | 0.774 | 0.43 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.14E-05 | 0 |
| K/T | rs959185764 |
-0.054 | 1.0 | N | 0.774 | 0.43 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| K/T | rs959185764 |
-0.054 | 1.0 | N | 0.774 | 0.43 | None | gnomAD-4.0.0 | 1.42628E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.78082E-05 | 0 | 3.20523E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7849 | likely_pathogenic | 0.8074 | pathogenic | -0.138 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| K/C | 0.9369 | likely_pathogenic | 0.9366 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| K/D | 0.9275 | likely_pathogenic | 0.9394 | pathogenic | 0.066 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| K/E | 0.7308 | likely_pathogenic | 0.7266 | pathogenic | 0.118 | Stabilizing | 0.999 | D | 0.648 | neutral | N | 0.466582243 | None | None | N |
| K/F | 0.9585 | likely_pathogenic | 0.9614 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| K/G | 0.8873 | likely_pathogenic | 0.8942 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/H | 0.6692 | likely_pathogenic | 0.6698 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/I | 0.7698 | likely_pathogenic | 0.789 | pathogenic | 0.556 | Stabilizing | 1.0 | D | 0.775 | deleterious | N | 0.505027269 | None | None | N |
| K/L | 0.701 | likely_pathogenic | 0.7193 | pathogenic | 0.556 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/M | 0.6334 | likely_pathogenic | 0.6457 | pathogenic | 0.301 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/N | 0.8443 | likely_pathogenic | 0.8663 | pathogenic | None | Stabilizing | 1.0 | D | 0.752 | deleterious | N | 0.480519979 | None | None | N |
| K/P | 0.7624 | likely_pathogenic | 0.8006 | pathogenic | 0.355 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| K/Q | 0.4251 | ambiguous | 0.4199 | ambiguous | -0.124 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.478954476 | None | None | N |
| K/R | 0.1264 | likely_benign | 0.1219 | benign | -0.272 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.476230416 | None | None | N |
| K/S | 0.8452 | likely_pathogenic | 0.8659 | pathogenic | -0.549 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/T | 0.5998 | likely_pathogenic | 0.6183 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.476316407 | None | None | N |
| K/V | 0.7178 | likely_pathogenic | 0.7375 | pathogenic | 0.355 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| K/W | 0.9491 | likely_pathogenic | 0.9462 | pathogenic | -0.018 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| K/Y | 0.9192 | likely_pathogenic | 0.9177 | pathogenic | 0.294 | Stabilizing | 1.0 | D | 0.751 | deleterious | 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.