Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17918 | 53977;53978;53979 | chr2:178605543;178605542;178605541 | chr2:179470270;179470269;179470268 |
| N2AB | 16277 | 49054;49055;49056 | chr2:178605543;178605542;178605541 | chr2:179470270;179470269;179470268 |
| N2A | 15350 | 46273;46274;46275 | chr2:178605543;178605542;178605541 | chr2:179470270;179470269;179470268 |
| N2B | 8853 | 26782;26783;26784 | chr2:178605543;178605542;178605541 | chr2:179470270;179470269;179470268 |
| Novex-1 | 8978 | 27157;27158;27159 | chr2:178605543;178605542;178605541 | chr2:179470270;179470269;179470268 |
| Novex-2 | 9045 | 27358;27359;27360 | chr2:178605543;178605542;178605541 | chr2:179470270;179470269;179470268 |
| 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/A | rs763660329  |
-0.62 | 0.698 | N | 0.546 | 0.23 | 0.192905019026 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/A | rs763660329 |
-0.62 | 0.698 | N | 0.546 | 0.23 | 0.192905019026 | gnomAD-4.0.0 | 3.18832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72928E-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 | 0.0683 | likely_benign | 0.0825 | benign | -0.479 | Destabilizing | 0.698 | D | 0.546 | neutral | N | 0.4617988 | None | None | N |
| P/C | 0.401 | ambiguous | 0.4543 | ambiguous | -0.653 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | N |
| P/D | 0.2625 | likely_benign | 0.2888 | benign | -0.178 | Destabilizing | 0.978 | D | 0.525 | neutral | None | None | None | None | N |
| P/E | 0.1546 | likely_benign | 0.177 | benign | -0.287 | Destabilizing | 0.86 | D | 0.52 | neutral | None | None | None | None | N |
| P/F | 0.3808 | ambiguous | 0.4538 | ambiguous | -0.673 | Destabilizing | 0.956 | D | 0.677 | prob.neutral | None | None | None | None | N |
| P/G | 0.1977 | likely_benign | 0.2314 | benign | -0.606 | Destabilizing | 0.926 | D | 0.513 | neutral | None | None | None | None | N |
| P/H | 0.123 | likely_benign | 0.1421 | benign | -0.118 | Destabilizing | 0.092 | N | 0.437 | neutral | None | None | None | None | N |
| P/I | 0.2571 | likely_benign | 0.3025 | benign | -0.292 | Destabilizing | 0.915 | D | 0.533 | neutral | None | None | None | None | N |
| P/K | 0.138 | likely_benign | 0.1538 | benign | -0.411 | Destabilizing | 0.956 | D | 0.511 | neutral | None | None | None | None | N |
| P/L | 0.103 | likely_benign | 0.1252 | benign | -0.292 | Destabilizing | 0.698 | D | 0.551 | neutral | N | 0.489332118 | None | None | N |
| P/M | 0.2408 | likely_benign | 0.2726 | benign | -0.395 | Destabilizing | 0.994 | D | 0.648 | neutral | None | None | None | None | N |
| P/N | 0.1982 | likely_benign | 0.2199 | benign | -0.19 | Destabilizing | 0.956 | D | 0.621 | neutral | None | None | None | None | N |
| P/Q | 0.0902 | likely_benign | 0.1055 | benign | -0.417 | Destabilizing | 0.97 | D | 0.603 | neutral | N | 0.47880848 | None | None | N |
| P/R | 0.105 | likely_benign | 0.1227 | benign | 0.099 | Stabilizing | 0.97 | D | 0.649 | neutral | N | 0.459161139 | None | None | N |
| P/S | 0.0868 | likely_benign | 0.1018 | benign | -0.567 | Destabilizing | 0.698 | D | 0.551 | neutral | N | 0.448234857 | None | None | N |
| P/T | 0.0767 | likely_benign | 0.0909 | benign | -0.573 | Destabilizing | 0.125 | N | 0.294 | neutral | N | 0.415855866 | None | None | N |
| P/V | 0.1624 | likely_benign | 0.1962 | benign | -0.32 | Destabilizing | 0.043 | N | 0.345 | neutral | None | None | None | None | N |
| P/W | 0.5238 | ambiguous | 0.5983 | pathogenic | -0.747 | Destabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | N |
| P/Y | 0.3339 | likely_benign | 0.3904 | ambiguous | -0.452 | Destabilizing | 0.956 | D | 0.664 | 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.