Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18363 | 55312;55313;55314 | chr2:178602315;178602314;178602313 | chr2:179467042;179467041;179467040 |
| N2AB | 16722 | 50389;50390;50391 | chr2:178602315;178602314;178602313 | chr2:179467042;179467041;179467040 |
| N2A | 15795 | 47608;47609;47610 | chr2:178602315;178602314;178602313 | chr2:179467042;179467041;179467040 |
| N2B | 9298 | 28117;28118;28119 | chr2:178602315;178602314;178602313 | chr2:179467042;179467041;179467040 |
| Novex-1 | 9423 | 28492;28493;28494 | chr2:178602315;178602314;178602313 | chr2:179467042;179467041;179467040 |
| Novex-2 | 9490 | 28693;28694;28695 | chr2:178602315;178602314;178602313 | chr2:179467042;179467041;179467040 |
| 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/I | rs1275266098  |
-0.505 | 0.047 | N | 0.475 | 0.111 | 0.167679373172 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.68E-05 | 0 | None | 0 | None | 0 | 7.84E-06 | 0 |
| T/I | rs1275266098 |
-0.505 | 0.047 | N | 0.475 | 0.111 | 0.167679373172 | 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 |
| T/I | rs1275266098 |
-0.505 | 0.047 | N | 0.475 | 0.111 | 0.167679373172 | gnomAD-4.0.0 | 3.10026E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.38043E-05 | 0 | None | 0 | 0 | 3.39179E-06 | 0 | 0 |
| T/R | None | None | None | N | 0.234 | 0.169 | 0.225215365344 | gnomAD-4.0.0 | 2.73832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59924E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0715 | likely_benign | 0.0843 | benign | -1.112 | Destabilizing | None | N | 0.167 | neutral | N | 0.398122962 | None | None | N |
| T/C | 0.2204 | likely_benign | 0.2884 | benign | -0.598 | Destabilizing | 0.482 | N | 0.411 | neutral | None | None | None | None | N |
| T/D | 0.4977 | ambiguous | 0.5839 | pathogenic | -0.393 | Destabilizing | 0.116 | N | 0.475 | neutral | None | None | None | None | N |
| T/E | 0.4334 | ambiguous | 0.5049 | ambiguous | -0.392 | Destabilizing | 0.051 | N | 0.327 | neutral | None | None | None | None | N |
| T/F | 0.2483 | likely_benign | 0.3197 | benign | -1.195 | Destabilizing | 0.314 | N | 0.647 | neutral | None | None | None | None | N |
| T/G | 0.2233 | likely_benign | 0.2563 | benign | -1.371 | Destabilizing | None | N | 0.37 | neutral | None | None | None | None | N |
| T/H | 0.3481 | ambiguous | 0.4158 | ambiguous | -1.582 | Destabilizing | 0.739 | D | 0.553 | neutral | None | None | None | None | N |
| T/I | 0.1271 | likely_benign | 0.1667 | benign | -0.507 | Destabilizing | 0.047 | N | 0.475 | neutral | N | 0.411052187 | None | None | N |
| T/K | 0.3285 | likely_benign | 0.3751 | ambiguous | -0.869 | Destabilizing | 0.02 | N | 0.283 | neutral | N | 0.5097736 | None | None | N |
| T/L | 0.0955 | likely_benign | 0.1277 | benign | -0.507 | Destabilizing | 0.026 | N | 0.329 | neutral | None | None | None | None | N |
| T/M | 0.0997 | likely_benign | 0.1261 | benign | -0.072 | Destabilizing | 0.005 | N | 0.233 | neutral | None | None | None | None | N |
| T/N | 0.181 | likely_benign | 0.2213 | benign | -0.793 | Destabilizing | 0.116 | N | 0.341 | neutral | None | None | None | None | N |
| T/P | 0.1133 | likely_benign | 0.1423 | benign | -0.678 | Destabilizing | 0.09 | N | 0.484 | neutral | N | 0.386924534 | None | None | N |
| T/Q | 0.3242 | likely_benign | 0.3868 | ambiguous | -0.988 | Destabilizing | 0.116 | N | 0.484 | neutral | None | None | None | None | N |
| T/R | 0.2637 | likely_benign | 0.3107 | benign | -0.568 | Destabilizing | None | N | 0.234 | neutral | N | 0.453920317 | None | None | N |
| T/S | 0.1256 | likely_benign | 0.144 | benign | -1.109 | Destabilizing | 0.02 | N | 0.346 | neutral | N | 0.438796149 | None | None | N |
| T/V | 0.1037 | likely_benign | 0.1267 | benign | -0.678 | Destabilizing | 0.026 | N | 0.273 | neutral | None | None | None | None | N |
| T/W | 0.64 | likely_pathogenic | 0.7356 | pathogenic | -1.074 | Destabilizing | 0.914 | D | 0.594 | neutral | None | None | None | None | N |
| T/Y | 0.3207 | likely_benign | 0.3929 | ambiguous | -0.875 | Destabilizing | 0.739 | D | 0.615 | 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.