Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26726 | 80401;80402;80403 | chr2:178565956;178565955;178565954 | chr2:179430683;179430682;179430681 |
| N2AB | 25085 | 75478;75479;75480 | chr2:178565956;178565955;178565954 | chr2:179430683;179430682;179430681 |
| N2A | 24158 | 72697;72698;72699 | chr2:178565956;178565955;178565954 | chr2:179430683;179430682;179430681 |
| N2B | 17661 | 53206;53207;53208 | chr2:178565956;178565955;178565954 | chr2:179430683;179430682;179430681 |
| Novex-1 | 17786 | 53581;53582;53583 | chr2:178565956;178565955;178565954 | chr2:179430683;179430682;179430681 |
| Novex-2 | 17853 | 53782;53783;53784 | chr2:178565956;178565955;178565954 | chr2:179430683;179430682;179430681 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1258866379  |
-0.336 | 0.139 | N | 0.314 | 0.244 | 0.204665344411 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1258866379 |
-0.336 | 0.139 | N | 0.314 | 0.244 | 0.204665344411 | gnomAD-4.0.0 | 1.36856E-06 | None | None | None | None | N | None | 2.989E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99556E-07 | 0 | 0 |
| T/I | None | None | 0.943 | N | 0.365 | 0.432 | 0.39694197178 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/P | None | None | 0.002 | N | 0.266 | 0.319 | 0.269558022972 | gnomAD-4.0.0 | 6.84279E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99556E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1688 | likely_benign | 0.2038 | benign | -0.168 | Destabilizing | 0.139 | N | 0.314 | neutral | N | 0.494988654 | None | None | N |
| T/C | 0.7926 | likely_pathogenic | 0.8417 | pathogenic | -0.447 | Destabilizing | 0.995 | D | 0.461 | neutral | None | None | None | None | N |
| T/D | 0.8051 | likely_pathogenic | 0.881 | pathogenic | -0.02 | Destabilizing | 0.249 | N | 0.306 | neutral | None | None | None | None | N |
| T/E | 0.7356 | likely_pathogenic | 0.8334 | pathogenic | -0.112 | Destabilizing | 0.688 | D | 0.329 | neutral | None | None | None | None | N |
| T/F | 0.7018 | likely_pathogenic | 0.7708 | pathogenic | -0.838 | Destabilizing | 0.994 | D | 0.548 | neutral | None | None | None | None | N |
| T/G | 0.3634 | ambiguous | 0.4193 | ambiguous | -0.215 | Destabilizing | 0.847 | D | 0.429 | neutral | None | None | None | None | N |
| T/H | 0.6383 | likely_pathogenic | 0.7049 | pathogenic | -0.348 | Destabilizing | 0.988 | D | 0.552 | neutral | None | None | None | None | N |
| T/I | 0.6268 | likely_pathogenic | 0.6916 | pathogenic | -0.166 | Destabilizing | 0.943 | D | 0.365 | neutral | N | 0.479624445 | None | None | N |
| T/K | 0.6183 | likely_pathogenic | 0.7153 | pathogenic | -0.311 | Destabilizing | 0.915 | D | 0.327 | neutral | None | None | None | None | N |
| T/L | 0.2814 | likely_benign | 0.3449 | ambiguous | -0.166 | Destabilizing | 0.755 | D | 0.309 | neutral | None | None | None | None | N |
| T/M | 0.2271 | likely_benign | 0.2667 | benign | -0.203 | Destabilizing | 0.996 | D | 0.416 | neutral | None | None | None | None | N |
| T/N | 0.2896 | likely_benign | 0.3675 | ambiguous | -0.17 | Destabilizing | 0.015 | N | 0.203 | neutral | N | 0.508933812 | None | None | N |
| T/P | 0.4647 | ambiguous | 0.5207 | ambiguous | -0.143 | Destabilizing | 0.002 | N | 0.266 | neutral | N | 0.474598015 | None | None | N |
| T/Q | 0.511 | ambiguous | 0.5969 | pathogenic | -0.366 | Destabilizing | 0.911 | D | 0.367 | neutral | None | None | None | None | N |
| T/R | 0.5792 | likely_pathogenic | 0.6649 | pathogenic | -0.026 | Destabilizing | 0.983 | D | 0.37 | neutral | None | None | None | None | N |
| T/S | 0.162 | likely_benign | 0.1925 | benign | -0.328 | Destabilizing | 0.139 | N | 0.341 | neutral | N | 0.459027853 | None | None | N |
| T/V | 0.4228 | ambiguous | 0.4903 | ambiguous | -0.143 | Destabilizing | 0.817 | D | 0.275 | neutral | None | None | None | None | N |
| T/W | 0.9224 | likely_pathogenic | 0.9418 | pathogenic | -0.929 | Destabilizing | 0.999 | D | 0.642 | neutral | None | None | None | None | N |
| T/Y | 0.7768 | likely_pathogenic | 0.8317 | pathogenic | -0.607 | Destabilizing | 0.994 | D | 0.549 | 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.