Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29988 | 90187;90188;90189 | chr2:178552938;178552937;178552936 | chr2:179417665;179417664;179417663 |
| N2AB | 28347 | 85264;85265;85266 | chr2:178552938;178552937;178552936 | chr2:179417665;179417664;179417663 |
| N2A | 27420 | 82483;82484;82485 | chr2:178552938;178552937;178552936 | chr2:179417665;179417664;179417663 |
| N2B | 20923 | 62992;62993;62994 | chr2:178552938;178552937;178552936 | chr2:179417665;179417664;179417663 |
| Novex-1 | 21048 | 63367;63368;63369 | chr2:178552938;178552937;178552936 | chr2:179417665;179417664;179417663 |
| Novex-2 | 21115 | 63568;63569;63570 | chr2:178552938;178552937;178552936 | chr2:179417665;179417664;179417663 |
| 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/A | rs1291865715  |
-0.256 | 0.001 | N | 0.099 | 0.072 | 0.16115917748 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/A | rs1291865715 |
-0.256 | 0.001 | N | 0.099 | 0.072 | 0.16115917748 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/A | rs1291865715 |
-0.256 | 0.001 | N | 0.099 | 0.072 | 0.16115917748 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47063E-05 | 0 | 0 |
| S/F | rs1313004711 |
-1.025 | 0.317 | N | 0.331 | 0.272 | 0.416454006429 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs1313004711 |
-1.025 | 0.317 | N | 0.331 | 0.272 | 0.416454006429 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1313004711 |
-1.025 | 0.317 | N | 0.331 | 0.272 | 0.416454006429 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0739 | likely_benign | 0.0703 | benign | -0.412 | Destabilizing | 0.001 | N | 0.099 | neutral | N | 0.459492 | None | None | N |
| S/C | 0.1149 | likely_benign | 0.1075 | benign | -0.29 | Destabilizing | 0.484 | N | 0.314 | neutral | N | 0.491287146 | None | None | N |
| S/D | 0.3712 | ambiguous | 0.3373 | benign | 0.197 | Stabilizing | 0.149 | N | 0.267 | neutral | None | None | None | None | N |
| S/E | 0.4626 | ambiguous | 0.4247 | ambiguous | 0.101 | Stabilizing | 0.149 | N | 0.184 | neutral | None | None | None | None | N |
| S/F | 0.1711 | likely_benign | 0.1515 | benign | -1.068 | Destabilizing | 0.317 | N | 0.331 | neutral | N | 0.476145406 | None | None | N |
| S/G | 0.0822 | likely_benign | 0.0763 | benign | -0.506 | Destabilizing | 0.035 | N | 0.198 | neutral | None | None | None | None | N |
| S/H | 0.2621 | likely_benign | 0.2485 | benign | -0.943 | Destabilizing | 0.935 | D | 0.313 | neutral | None | None | None | None | N |
| S/I | 0.1251 | likely_benign | 0.1204 | benign | -0.297 | Destabilizing | 0.081 | N | 0.271 | neutral | None | None | None | None | N |
| S/K | 0.4867 | ambiguous | 0.4646 | ambiguous | -0.41 | Destabilizing | 0.149 | N | 0.183 | neutral | None | None | None | None | N |
| S/L | 0.0861 | likely_benign | 0.0801 | benign | -0.297 | Destabilizing | 0.001 | N | 0.202 | neutral | None | None | None | None | N |
| S/M | 0.1734 | likely_benign | 0.1615 | benign | -0.089 | Destabilizing | 0.38 | N | 0.319 | neutral | None | None | None | None | N |
| S/N | 0.1039 | likely_benign | 0.0963 | benign | -0.14 | Destabilizing | 0.149 | N | 0.3 | neutral | None | None | None | None | N |
| S/P | 0.086 | likely_benign | 0.0814 | benign | -0.308 | Destabilizing | 0.484 | N | 0.333 | neutral | N | 0.455104901 | None | None | N |
| S/Q | 0.3627 | ambiguous | 0.3419 | ambiguous | -0.377 | Destabilizing | 0.555 | D | 0.322 | neutral | None | None | None | None | N |
| S/R | 0.4467 | ambiguous | 0.4387 | ambiguous | -0.189 | Destabilizing | 0.38 | N | 0.345 | neutral | None | None | None | None | N |
| S/T | 0.0701 | likely_benign | 0.0664 | benign | -0.256 | Destabilizing | None | N | 0.089 | neutral | N | 0.427088793 | None | None | N |
| S/V | 0.1405 | likely_benign | 0.1298 | benign | -0.308 | Destabilizing | 0.035 | N | 0.251 | neutral | None | None | None | None | N |
| S/W | 0.3664 | ambiguous | 0.3535 | ambiguous | -1.081 | Destabilizing | 0.935 | D | 0.35 | neutral | None | None | None | None | N |
| S/Y | 0.1866 | likely_benign | 0.1756 | benign | -0.791 | Destabilizing | 0.484 | N | 0.321 | neutral | N | 0.502389962 | 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.