Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30809 | 92650;92651;92652 | chr2:178549201;178549200;178549199 | chr2:179413928;179413927;179413926 |
| N2AB | 29168 | 87727;87728;87729 | chr2:178549201;178549200;178549199 | chr2:179413928;179413927;179413926 |
| N2A | 28241 | 84946;84947;84948 | chr2:178549201;178549200;178549199 | chr2:179413928;179413927;179413926 |
| N2B | 21744 | 65455;65456;65457 | chr2:178549201;178549200;178549199 | chr2:179413928;179413927;179413926 |
| Novex-1 | 21869 | 65830;65831;65832 | chr2:178549201;178549200;178549199 | chr2:179413928;179413927;179413926 |
| Novex-2 | 21936 | 66031;66032;66033 | chr2:178549201;178549200;178549199 | chr2:179413928;179413927;179413926 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs976337472  |
-1.598 | None | N | 0.356 | 0.101 | 0.43656330218 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| I/T | rs976337472 |
-1.598 | None | N | 0.356 | 0.101 | 0.43656330218 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85785E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.229 | likely_benign | 0.2183 | benign | -1.79 | Destabilizing | 0.016 | N | 0.449 | neutral | None | None | None | None | N |
| I/C | 0.5221 | ambiguous | 0.5276 | ambiguous | -0.863 | Destabilizing | 0.685 | D | 0.522 | neutral | None | None | None | None | N |
| I/D | 0.5636 | ambiguous | 0.5216 | ambiguous | -0.943 | Destabilizing | 0.221 | N | 0.631 | neutral | None | None | None | None | N |
| I/E | 0.4649 | ambiguous | 0.4413 | ambiguous | -0.899 | Destabilizing | 0.075 | N | 0.591 | neutral | None | None | None | None | N |
| I/F | 0.1481 | likely_benign | 0.1361 | benign | -1.187 | Destabilizing | 0.177 | N | 0.433 | neutral | N | 0.462540012 | None | None | N |
| I/G | 0.4913 | ambiguous | 0.4737 | ambiguous | -2.155 | Highly Destabilizing | 0.075 | N | 0.574 | neutral | None | None | None | None | N |
| I/H | 0.3994 | ambiguous | 0.3812 | ambiguous | -1.253 | Destabilizing | 0.869 | D | 0.72 | deleterious | None | None | None | None | N |
| I/K | 0.269 | likely_benign | 0.2515 | benign | -0.999 | Destabilizing | 0.075 | N | 0.608 | neutral | None | None | None | None | N |
| I/L | 0.1169 | likely_benign | 0.1158 | benign | -0.841 | Destabilizing | 0.005 | N | 0.413 | neutral | N | 0.432550541 | None | None | N |
| I/M | 0.1117 | likely_benign | 0.1097 | benign | -0.593 | Destabilizing | 0.177 | N | 0.441 | neutral | N | 0.469492776 | None | None | N |
| I/N | 0.1843 | likely_benign | 0.1691 | benign | -0.846 | Destabilizing | 0.177 | N | 0.649 | prob.neutral | N | 0.471551647 | None | None | N |
| I/P | 0.3668 | ambiguous | 0.3408 | ambiguous | -1.128 | Destabilizing | 0.366 | N | 0.651 | prob.neutral | None | None | None | None | N |
| I/Q | 0.3532 | ambiguous | 0.3365 | benign | -0.977 | Destabilizing | 0.366 | N | 0.669 | prob.neutral | None | None | None | None | N |
| I/R | 0.2335 | likely_benign | 0.2271 | benign | -0.452 | Destabilizing | 0.221 | N | 0.668 | prob.neutral | None | None | None | None | N |
| I/S | 0.2028 | likely_benign | 0.1962 | benign | -1.548 | Destabilizing | 0.03 | N | 0.595 | neutral | N | 0.401555631 | None | None | N |
| I/T | 0.1407 | likely_benign | 0.1409 | benign | -1.381 | Destabilizing | None | N | 0.356 | neutral | N | 0.410271114 | None | None | N |
| I/V | 0.0701 | likely_benign | 0.0703 | benign | -1.128 | Destabilizing | None | N | 0.15 | neutral | N | 0.442900821 | None | None | N |
| I/W | 0.7512 | likely_pathogenic | 0.736 | pathogenic | -1.269 | Destabilizing | 0.869 | D | 0.757 | deleterious | None | None | None | None | N |
| I/Y | 0.445 | ambiguous | 0.428 | ambiguous | -1.035 | Destabilizing | 0.366 | N | 0.506 | 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.