Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32298 | 97117;97118;97119 | chr2:178543081;178543080;178543079 | chr2:179407808;179407807;179407806 |
| N2AB | 30657 | 92194;92195;92196 | chr2:178543081;178543080;178543079 | chr2:179407808;179407807;179407806 |
| N2A | 29730 | 89413;89414;89415 | chr2:178543081;178543080;178543079 | chr2:179407808;179407807;179407806 |
| N2B | 23233 | 69922;69923;69924 | chr2:178543081;178543080;178543079 | chr2:179407808;179407807;179407806 |
| Novex-1 | 23358 | 70297;70298;70299 | chr2:178543081;178543080;178543079 | chr2:179407808;179407807;179407806 |
| Novex-2 | 23425 | 70498;70499;70500 | chr2:178543081;178543080;178543079 | chr2:179407808;179407807;179407806 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs201108270  |
0.026 | 0.012 | N | 0.434 | 0.101 | 0.104622674875 | gnomAD-2.1.1 | 4.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.22E-06 | 0 |
| Q/E | rs201108270 |
0.026 | 0.012 | N | 0.434 | 0.101 | 0.104622674875 | gnomAD-4.0.0 | 4.19836E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.50717E-06 | 0 | 0 |
| Q/H | rs776724759 |
-0.628 | None | N | 0.283 | 0.089 | 0.104622674875 | gnomAD-2.1.1 | 4.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.23E-06 | 0 |
| Q/H | rs776724759 |
-0.628 | None | N | 0.283 | 0.089 | 0.104622674875 | gnomAD-4.0.0 | 1.65042E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.97511E-06 | 0 | 0 |
| Q/R | None | None | None | N | 0.229 | 0.122 | 0.0846915920261 | gnomAD-4.0.0 | 1.64912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.48885E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2878 | likely_benign | 0.2704 | benign | -0.459 | Destabilizing | 0.032 | N | 0.473 | neutral | None | None | None | None | N |
| Q/C | 0.6504 | likely_pathogenic | 0.6686 | pathogenic | 0.092 | Stabilizing | 0.869 | D | 0.564 | neutral | None | None | None | None | N |
| Q/D | 0.5965 | likely_pathogenic | 0.5726 | pathogenic | -0.453 | Destabilizing | 0.075 | N | 0.355 | neutral | None | None | None | None | N |
| Q/E | 0.1159 | likely_benign | 0.1179 | benign | -0.421 | Destabilizing | 0.012 | N | 0.434 | neutral | N | 0.452827026 | None | None | N |
| Q/F | 0.8189 | likely_pathogenic | 0.8112 | pathogenic | -0.406 | Destabilizing | 0.366 | N | 0.551 | neutral | None | None | None | None | N |
| Q/G | 0.358 | ambiguous | 0.342 | ambiguous | -0.746 | Destabilizing | 0.075 | N | 0.451 | neutral | None | None | None | None | N |
| Q/H | 0.2701 | likely_benign | 0.2616 | benign | -0.771 | Destabilizing | None | N | 0.283 | neutral | N | 0.465351169 | None | None | N |
| Q/I | 0.5971 | likely_pathogenic | 0.5811 | pathogenic | 0.238 | Stabilizing | 0.366 | N | 0.609 | neutral | None | None | None | None | N |
| Q/K | 0.0996 | likely_benign | 0.1021 | benign | -0.179 | Destabilizing | 0.001 | N | 0.139 | neutral | N | 0.382641796 | None | None | N |
| Q/L | 0.2303 | likely_benign | 0.2217 | benign | 0.238 | Stabilizing | 0.058 | N | 0.441 | neutral | N | 0.474533237 | None | None | N |
| Q/M | 0.468 | ambiguous | 0.463 | ambiguous | 0.71 | Stabilizing | 0.637 | D | 0.339 | neutral | None | None | None | None | N |
| Q/N | 0.4426 | ambiguous | 0.4244 | ambiguous | -0.621 | Destabilizing | 0.075 | N | 0.37 | neutral | None | None | None | None | N |
| Q/P | 0.6416 | likely_pathogenic | 0.5943 | pathogenic | 0.036 | Stabilizing | 0.303 | N | 0.53 | neutral | N | 0.488403824 | None | None | N |
| Q/R | 0.1007 | likely_benign | 0.1014 | benign | -0.08 | Destabilizing | None | N | 0.229 | neutral | N | 0.434956128 | None | None | N |
| Q/S | 0.3168 | likely_benign | 0.3054 | benign | -0.657 | Destabilizing | 0.075 | N | 0.39 | neutral | None | None | None | None | N |
| Q/T | 0.2594 | likely_benign | 0.2471 | benign | -0.447 | Destabilizing | 0.075 | N | 0.553 | neutral | None | None | None | None | N |
| Q/V | 0.3588 | ambiguous | 0.342 | ambiguous | 0.036 | Stabilizing | 0.075 | N | 0.513 | neutral | None | None | None | None | N |
| Q/W | 0.6618 | likely_pathogenic | 0.6437 | pathogenic | -0.303 | Destabilizing | 0.869 | D | 0.627 | neutral | None | None | None | None | N |
| Q/Y | 0.6052 | likely_pathogenic | 0.5941 | pathogenic | -0.066 | Destabilizing | 0.125 | N | 0.528 | 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.